Veille Neuromusculaire / Neuromuscular Alert

Transcription

Bibliographie sur les maladies neuromusculaires
Bibliography on neuromuscular disorders
n° 2016-10-1 du 23 septembre au 6 octobre 2016 (September 23 – October 6, 2016)
Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille Neuromusculaire" contient les
dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est celle de la Fiche
Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires" publiée par l'AFM-Téléthon et mise
à jour en octobre 2012.
 Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires
Myobase
Every two weeks, you will find in the “Neuromuscular Alert “ the latest references published in Pubmed. The list of
covered diseases comes from the October 2012 publication "Avancées médico-scientifiques neuromusculaires", Fiche
technique Savoir & Comprendre published by l'AFM-Téléthon.
 Previous alerts are available for consultation on Myobase, the AFM bibliographic database in the field of
Neuromuscular Disorders
Sommaire par maladies / diseases
Amyotrophies bulbospinales – Bulbospinal amyotrophies ....................................................................... 1
Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 2
Amyotrophies spinales distales – Distal spinal muscular atrophies ........................................................ 3
Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................. 4
Collagénopathies – Collagenopathies .......................................................................................................... 5
Dysferlinopathies – Dysferlinopathies .......................................................................................................... 6
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker –
Dystrophinopathies......................................................................................................................................... 6
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 9
Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) .. 9
Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 10
Maladie de Pompe – Pompe disease ........................................................................................................... 12
Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 14
Myopathies congénitales – Congenital myopathies .................................................................................. 17
Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 18
Myopathies métaboliques – Metabolic myopathies .................................................................................. 21
Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 22
Myosinopathies – Myosinopathies .............................................................................................................. 23
Myotonies congénitales – Myotonia congenita ......................................................................................... 23
Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 24
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) ........... 24
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 25
Divers – Miscellaneous ................................................................................................................................. 28
Sommaire par spécialités / specialties
Cardiologie – Cardiology .............................................................................................................................. 29
Douleur – Pain ............................................................................................................................................... 30
Électromyographie – Electromyography .................................................................................................... 30
Imagerie médicale – Medical imaging ......................................................................................................... 30
Pneumologie – Pneumology ........................................................................................................................ 31
Médecine physique et de réadaptation – Physical and rehabilitation medicine .................................... 32
Amyotrophies bulbospinales – Bulbospinal amyotrophies
1. Cerebellum. 2016 Sep 29. [Epub ahead of print]
Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and
What Is Different?
1
1
1
1
2
1
Salomão RP , Gama MT , Rezende Filho FM , Maggi F , Pedroso JL , Barsottini OG .
1
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São
Paulo, Brazil.
2
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São
Paulo, Brazil. [email protected].
AFM-Téléthon>Myodoc – 7/10/2016
1
2. Clin Chim Acta. 2016 Oct 1. pii: S0009-8981(16)30395-3. doi: 10.1016/j.cca.2016.09.022. [Epub ahead of print]
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient:
first genetically proven case with mutations in two riboflavin transporters.
1
2
3
4
4
1
2
5
Udhayabanu T , Subramanian VS , Teafatiller T , Raju KN , Raghavan VS , Varalakshmi P , Said HM , Ashokkumar B .
1
School of Biotechnology, Madurai Kamaraj University, Madurai - 625021, India.
2
Departments of Medicine, Physiology/Biophysics, University of California, Irvine, CA 92697, USA; Department of
Veterans Affairs Medical Center, Long Beach, CA 90822, USA.
3
Department of Veterans Affairs Medical Center, Long Beach, CA 90822, USA.
4
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
5
School of Biotechnology, Madurai Kamaraj University, Madurai - 625021, India. Electronic address:
[email protected].
3. Cell Rep. 2016 Sep 27;17(1):125-36. doi: 10.1016/j.celrep.2016.08.084.
Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing.
1
1
1
1
2
3
1
4
3
5
Giorgetti E , Yu Z , Chua JP , Shimamura R , Zhao L , Zhu F , Venneti S , Pennuto M , Guan Y , Hung G , Lieberman
6
AP .
1
Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
2
Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
3
Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI
48109, USA.
4
Dulbecco Telethon Institute, Centre for Integrative Biology, University of Trento, Trento 38123, Italy.
5
Ionis Pharmaceuticals, Inc., Carlsbad, CA 92010, USA.
6
Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address:
[email protected].
4. Mol Neurobiol. 2016 Sep 22. [Epub ahead of print]
Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders.
1
1
2
Reis SD , Pinho BR , Oliveira JM .
1
REQUIMTE/LAQV, Department of Drug Sciences, Pharmacology Lab, Faculty of Pharmacy, University of Porto, Porto,
Portugal.
2
REQUIMTE/LAQV, Department of Drug Sciences, Pharmacology Lab, Faculty of Pharmacy, University of Porto, Porto,
Portugal. [email protected].
Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA)
5. Muscle Nerve. 2016 Oct 4. doi: 10.1002/mus.25430. [Epub ahead of print]
Revised upper limb module for spinal muscular atrophy: Development of a new module.
1
2
3
4
1
3
3
1
Mazzone ES , Mayhew A , Montes J , Ramsey D , Fanelli L , Dunaway Young S , Salazar R , De Sanctis R , Pasternak
5
6
1
7
1
8
8
1
4
1
9
A , Glanzman A , Coratti G , Civitello M , Forcina N , Gee R , Duong T , Pane M , Scoto M , Pera MC , Messina S ,
6
8
5
3
7
4
10
Tennekoon G , Day JW , Darras BT , De Vivo DC , Finkel R , Muntoni F , Mercuri E .
1
Department of Paediatric Neurology, Catholic University, Rome, Italy.
2
Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
3
Department of Neurology, Columbia University Medical Center, New York, USA.
4
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
5
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
6
Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman
School of Medicine at the University of Pennsylvania, Philadelphia, USA.
7
Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA.
8
Department of Neurology, Stanford University, Stanford, CA, USA.
9
Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Italy.
10
Department of Paediatric Neurology, Catholic University, Rome, Italy. [email protected].
6. JCI Insight. 2016 Jul 21;1(11):e87908.
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy.
1
2
1
3
1
1
4
1
5
6
Powis RA , Karyka E , Boyd P , Côme J , Jones RA , Zheng Y , Szunyogova E , Groen EJ , Hunter G , Thomson D ,
7
8
4
3
2
1
Wishart TM , Becker CG , Parson SH , Martinat C , Azzouz M , Gillingwater TH .
2
1
Euan MacDonald Centre for Motor Neurone Disease Research and; Centre for Integrative Physiology, University of
Edinburgh, Edinburgh, United Kingdom.
2
Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, United Kingdom.
3
INSERM/UEVE UMR861, Institute for Stem cell Therapy and Exploration of Monogenic Diseases (I-Stem), CorbeilEssonnes, France.
4
Euan MacDonald Centre for Motor Neurone Disease Research and; The Institute of Medical Sciences, University of
Aberdeen, Aberdeen, United Kingdom.
5
Euan MacDonald Centre for Motor Neurone Disease Research and; Department of Life Sciences, Glasgow Caledonian
University, Glasgow, United Kingdom.
6
Centre for Cognitive and Neural Systems.
7
Euan MacDonald Centre for Motor Neurone Disease Research and; The Roslin Institute, and.
8
Euan MacDonald Centre for Motor Neurone Disease Research and; Centre for Neuroregeneration, University of
Edinburgh, Edinburgh, United Kingdom.
7. Sci Rep. 2016 Oct 4;6:34635. doi: 10.1038/srep34635.
Survival Motor Neuron (SMN) protein is required for normal mouse liver development.
1,2
3
1
2,4
3
2,4
1,2
Szunyogova E , Zhou H , Maxwell GK , Powis RA , Francesco M , Gillingwater TH , Parson SH .
1
Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom.
2
Euan MacDonald Center for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, United Kingdom.
3
Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, United Kingdom.
4
Center for Integrative Physiology, University of Edinburgh, Edinburgh, United Kingdom.
8. Pediatr Pulmonol. 2016 Sep 29. doi: 10.1002/ppul.23616. [Epub ahead of print]
Physician driven variation in the care of children with spinal muscular atrophy type 1.
1,2
3
4
4
Oskoui M , Ng P , Liben S , Zielinski D .
1
Department of Pediatrics, McGill University, Montréal, QC, Canada. [email protected].
2
Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. [email protected].
3
McGill University Health Center Research Institute, Montréal, QC, Canada.
4
Department of Pediatrics, McGill University, Montréal, QC, Canada.
9. Ann Phys Rehabil Med. 2016 Sep;59S:e92. doi: 10.1016/j.rehab.2016.07.207.
Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA.
1
2
3
4
4
4
5
6
5
3
Sauvagnac-Quera R , Vabre C , Azzi V , Tirolien S , Leiba N , Poisson F , Miladi L , Carlier R , Glorion C , Leclair D ,
3
3
Estournet B , Quijano-Roy S .
1
AP-HP, hôpital Raymond-Poincaré, pédiatrie, centre de référence des maladies neuromusculaires GNMH, Garches,
France; AP-HP, hôpital Raymond-Poincaré, MPR pédiatrique, Garches, France. Electronic address:
[email protected].
2
NEUT, ortho-prothésiste, Paris, France.
3
AP-HP, hôpital Raymond-Poincaré, imagerie, Garches, France.
4
AP-HP, hôpital Raymond-Poincaré, MPR pédiatrique, Garches, France.
5
AP-HP, hôpital Raymond-Poincaré, pédiatrie, Garches, France.
6
AP-HP, hôpital Necker-Enfants Malades, chirurgie infantile, Paris, France.
Innovative method for motor functions evaluation in SMA type 2 and 3 patients.
1
2
3
3
Vuillerot C , Vincent-Genod D , Thomann G , Coton J .
1
Hospices civils de Lyon, L'Escale, Bron, France. Electronic address: [email protected].
2
Hospices civils de Lyon, L'Escale, Bron, France.
3
Université Grenoble-Alpes, laboratoire G-SCOP, Grenoble, France.
Amyotrophies spinales distales – Distal spinal muscular atrophies
11. Am J Hum Genet. 2016 Sep 9. pii: S0002-9297(16)30329-9. doi: 10.1016/j.ajhg.2016.08.006. [Epub ahead of
print]
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
1
2
1
1
3
1
1
1
4
5
Sferra A , Baillat G , Rizza T , Barresi S , Flex E , Tasca G , D'Amico A , Bellacchio E , Ciolfi A , Caputo V , Cecchetti
6
7
1
1
1
1
8
9
1
1
S , Torella A , Zanni G , Diodato D , Piermarini E , Niceta M , Coppola A , Tedeschi E , Martinelli D , Dionisi-Vici C ,
7
1
1
10
2
11
Nigro V , Dallapiccola B , Compagnucci C , Tartaglia M , Haase G , Bertini E .
3
1
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Institut de Neurosciences de la Timone, UMR 7289 CNRS Aix-Marseille University, 13005 Marseille, France.
3
Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
4
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy; Centro di
Ricerca per gli alimenti e la nutrizione, CREA, 00178 Rome, Italy.
5
Department of Experimental Medicine, Università La Sapienza, 00161 Rome, Italy.
6
Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, 00161 Rome, Italy.
7
Department of Biochemistry, Biophysics and General Pathology, Seconda Università degli Studi di Napoli, 80138
Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
8
Department of Neuroscience, Reproductive and Odontostomatological Sciences, Università degli Studi di Napoli
Federico II, 80131 Naples, Italy.
9
Department of Advanced Biomedical Sciences, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
10
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic
address: [email protected].
11
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic
2
Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease
Relation between prehension strength, dexterity and axonal loss in a Charcot Marie Tooth 1A population.
1
2
Conforto I , Coudeyre E .
1
CHU de Clermont-Ferrand, MPR, Clermont Ferrand, France. Electronic address: [email protected].
2
CHU de Clermont-Ferrand, MPR, Clermont Ferrand, France.
13. J Peripher Nerv Syst. 2016 Oct 4. doi: 10.1111/jns.12191. [Epub ahead of print]
Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.
1
1
1
1
2,3
4
1
5
Roberts-Clarke D , Fornusek C , Saigal N , Halaki M , Burns J , Nicholson G , Fiatarone Singh M , Hackett D .
1
Exercise, Health and Performance Faculty Research Group, Faculty of Health Sciences, The University of Sydney,
Lidcombe, New South Wales, Australia.
2
Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, New
South Wales, Australia.
3
Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and
Westmead), Sydney, New South Wales, Australia.
4
Concord Clinical School, ANZAC Institute, Concord Repatriation Hospital, Hospital Road, Concord, NSW, Australia.
5
Lidcombe, New South Wales, Australia. [email protected].
14. J Peripher Nerv Syst. 2016 Oct 5. doi: 10.1111/jns.12192. [Epub ahead of print]
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2
mutations.
1,2
3
1
4
5
1,6
1,6
1,2
Codron P , Chevrollier A , Kane MS , Echaniz-Laguna A , Latour P , Reynier P , Bonneau D , Verny C , Procaccio
1,6
1
1,2
V , Lenaers G , Cassereau J .
1
PREMMi / Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université
d'Angers, CHU d'Angers, Angers, France.
2
Department of Neurology, University Hospital of Angers, Angers, France.
3
PREMMi / Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université
d'Angers, CHU d'Angers, Angers, France. [email protected].
4
Department of Neurology, University Hospital of Strasbourg, Strasbourg, France.
5
Department of Neurogenetics, University Hospital of Lyon, Bron, France.
6
Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.
15. Open Access Maced J Med Sci. 2016 Sep 15;4(3):443-448. Epub 2016 Jul 12.
The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two
Cases.
4
1
1
1
1
1
1
Dimitrova EN , Božinovikj I , Ristovska S , Pejcikj AH , Kolevska A , Hasani M .
1
Institute of Physical Medicine and Rehabilitation, Medical Faculty, Ss Cyril and Methodius University of Skopje, Skopje,
Republic of Macedonia.
16. Ann Neurol. 2016 Sep 30. doi: 10.1002/ana.24775. [Epub ahead of print]
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
1
1
2
3
4
4
1
1,5,6
Peeters K , Palaima P , Pelayo-Negro AL , García A , Gallardo E , García-Barredo R , Mateiu L , Baets J , Menten
6
1
1
1
2
2
1
B , De Vriendt E , De Jonghe P , Timmerman V , Infante J , Berciano J , Jordanova A .
1
VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
2
Departments of Neurology, University Hospital, University of Cantabria, and Center for Biomedical Research in the
Neurodegenerative Diseases Network, Santander, Spain.
3
Clinical Neurophysiology, University Hospital, University of Cantabria, and Center for Biomedical Research in the
Neurodegenerative Diseases Network, Santander, Spain.
4
Radiology, University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria, and Center for Biomedical
Research in the Neurodegenerative Diseases (CIBERNED) Network, Santander, Spain.
5
Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
6
Born-Bunge Institute, University of Antwerp, Antwerp, Belgium.
17. Disabil Rehabil. 2016 Aug 16:1-6. [Epub ahead of print]
A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects.
1,2
2,3
1
2
2,3
4
4
5
4
Ramdharry GM , Pollard AJ , Grant R , Dewar EL , Laurá M , Moore SA , Hallsworth K , Ploetz T , Trenell MI ,
2,3
Reilly MM .
1
a Faculty of Health, Social Care and Education, Kingston University and St George's University of London, London, UK
2
b MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery , London , UK ;
3
c Department of Molecular Neuroscience , UCL Institute of Neurology , London, London , UK ;
4
d Movelab , Institute of Cellular Medicine, Newcastle University , Newcastle upon Tyne , UK ;
5
e School of Computing Science, Newcastle University , Newcastle upon Tyne , UK.
Motor, cognitive and psychosocial impacts of an adapted dance program among children with Charcot-MarieTooth disease: An exploratory study.
1
2
3
2
4
2
3
Claire C , Martel M , Fortin S , Raymond MJ , Veilleux LN , D'Arcy S , Lemay M .
1
CHU Saine-Justine, centre de recherche du centre de réadaptation Marie Enfant, Montréal, Canada. Electronic
2
CHU Saine-Justine, centre de recherche du centre de réadaptation Marie Enfant, Montréal, Canada.
3
Université du Québec, Montréal, Canada.
4
Hôpital Shriners pour enfants, Montréal, Canada.
19. J Neurol Sci. 2016 Oct 15;369:318-23. doi: 10.1016/j.jns.2016.08.035. Epub 2016 Aug 17.
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
1
2
3
2
4
Khani M , Shamshiri H , Alavi A , Nafissi S , Elahi E .
1
School of Biology, College of Science, University of Tehran, Tehran, Iran.
2
Dept. of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
3
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
4
School of Biology, College of Science, University of Tehran, Tehran, Iran; Dept. of Biotechnology, College of Science,
University of Tehran, Tehran, Iran. Electronic address: [email protected].
Collagénopathies – Collagenopathies
20. Autophagy. 2016 Sep 22:0. [Epub ahead of print]
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.
1
2
3
1
2,4
3
5
6
7
Castagnaro S , Pellegrini C , Pellegrini M , Chrisam M , Sabatelli P , Toni S , Grumati P , Ripamonti C , Pratelli L ,
2,4
8
9
10
11,12
1,13
2
Maraldi NM , Cocchi D , Righi V , Faldini C , Sandri M
, Bonaldo P , Merlini L .
1
a Department of Molecular Medicine , University of Padova , Padova , Italy.
2
b Laboratory of Musculoskeletal Cell Biology , Rizzoli Orthopedic Institute , Bologna , Italy.
3
c Department of Diagnostic , Clinical and Public Health Medicine, University of Modena and Reggio Emilia , Modena ,
Italy.
4
d Institute of Molecular Genetics, CNR National Research Council of Italy, Rizzoli Orthopedic Institute , Bologna , Italy.
5
5
e Institute of Biochemistry II, Goethe University School of Medicine , Frankfurt am Main , Germany.
f Department of Medicine and Rheumatology , University of Bologna , Bologna , Italy.
7
g Clinical Pathology Unit, Rizzoli Orthopedic Institute , Bologna , Italy.
8
h Department of Statistical Sciences , University of Bologna , Bologna , Italy.
9
i Department of Life Quality Studies , Campus Rimini , University of Bologna , Bologna , Italy.
10
j Department of Orthopedics , University of Bologna , Bologna , Italy.
11
k Department of Biomedical Sciences , University of Padova , Padova , Italy.
12
l Venetian Institute of Molecular Medicine , Padova , Italy.
13
m CRIBI Biotechnology Center, University of Padova , Padova , Italy.
6
Dysferlinopathies – Dysferlinopathies
21. Neuromuscul Disord. 2016 Aug 29. pii: S0960-8966(16)30239-5. doi: 10.1016/j.nmd.2016.08.008. [Epub ahead
of print]
Dysferlin mutations and mitochondrial dysfunction.
1
1
1
1
1
1
2
1
3
Vincent AE , Rosa HS , Alston CL , Grady JP , Rygiel KA , Rocha MC , Barresi R , Taylor RW , Turnbull DM .
1
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon
Tyne, NE2 4HH, UK.
2
Rare Diseases Advisory Group Service for Rare Neuromuscular Diseases, Muscle Immunoanalysis Unit, Newcastleupon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK.
3
Tyne, NE2 4HH, UK. Electronic address: [email protected].
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
– Dystrophinopathies
22. J Thorac Cardiovasc Surg. 2016 Aug 28. pii: S0022-5223(16)31035-2. doi: 10.1016/j.jtcvs.2016.08.016. [Epub
ahead of print]
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results.
1
2
2
2
2
2
3
4
4
2
Perri G , Filippelli S , Adorisio R , Iacobelli R , Iodice F , Testa G , Paglietti MG , D'Amario D , Massetti M , Amodeo A .
1
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital IRCCS, Rome, Italy;
Pneumology Unit - University Hospital Pediatric Department, Bambino Gesù Children Hospital, IRCCS, Rome, Italy;
Cardiovascular Science, Cardio-Thoracic Surgery Unit, Catholic University, A. Gemelli Hospital, Rome, Italy. Electronic
2
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
3
Pneumology Unit - University Hospital Pediatric Department, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
4
Cardiovascular Science, Cardio-Thoracic Surgery Unit, Catholic University, A. Gemelli Hospital, Rome, Italy.
23. J Cardiovasc Magn Reson. 2016 Sep 22;18(1):61.
Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular
dystrophy carriers.
1,2
3
4
4
3
5
6
3
Wexberg P , Avanzini M , Mascherbauer J , Pfaffenberger S , Freudenthaler B , Bittner R , Bernert G , Weidinger F .
1
2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria. [email protected].
2
SVA-Gesundheitszentrum, Hartmanngasse 2b, Vienna, A-1051, Austria. [email protected].
3
2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
4
Division of Cardiology, Department Of Internal Medicine II, Medical University of Vienna, Vienna, Austria.
5
Neuromuscular Research Department, Center of Anatomy & Cell Biology, Medical University of Vienna, Vienna,
Austria.
6
Gottfried von Preyer Children Hospital, Vienna, Austria.
24. J Biomech. 2016 Sep 15. pii: S0021-9290(16)30995-2. doi: 10.1016/j.jbiomech.2016.09.016. [Epub ahead of
print]
Impact of P2RX7 ablation on the morphological, mechanical and tissue properties of bones in a murine model of
duchenne muscular dystrophy.
6
1
2
2
3
4
Mohamad NS , Sinadinos A , Górecki DC , Zioupos P , Tong J .
1
2
Mechanical Behaviour of Materials Group, School of Engineering, University of Portsmouth, UK. School of Pharmacy
3
and Biomedical Sciences, University of Portsmouth, UK. Biomechanics Labs, Cranfield Forensic Institute, Cranfield
4
University, UK. Mechanical Behaviour of Materials Group, School of Engineering, University of Portsmouth, UK.
Electronic address: [email protected].
25. Arq Neuropsiquiatr. 2016 Sep;74(9):767-774. doi: 10.1590/0004-282X20160107.
Pain characterization in Duchenne muscular dystrophy.
1
1,2
2
2
1
2
2
3
3
Silva TD , Massetti T , Monteiro CB , Trevizan IL , Arab C , Caromano FA , Voos MC , Oliveira AS , Favero FM .
1
Universidade Federal de São Paulo, Faculdade de Medicina, Departamento de Cardiologia, São Paulo SP, Brasil.
2
Universidade de São Paulo, Faculdade de Medicina, Programa de Pós-Graduação Ciências da Reabilitação, São
Paulo SP, Brasil.
3
Universidade Federal de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.
26. J Cell Biol. 2016 Oct 3. pii: jcb.201603111. [Epub ahead of print]
A human in vitro model of Duchenne muscular dystrophy muscle formation and contractility.
1
1
1
1
2
2
3
Nesmith AP , Wagner MA , Pasqualini FS , O'Connor BB , Pincus MJ , August PR , Parker KK .
1
Disease Biophysics Group, Wyss Institute for Biologically Inspired Engineering and Harvard John A. Paulson School of
Engineering and Applied Sciences, Harvard University, Cambridge, MA 02138.
2
Sanofi U.S.-Tucson Innovation Center, Oro Valley, AZ 85755.
3
Disease Biophysics Group, Wyss Institute for Biologically Inspired Engineering and Harvard John A. Paulson School of
Engineering and Applied Sciences, Harvard University, Cambridge, MA 02138 [email protected].
27. Respir Med. 2016 Oct;119:35-40. doi: 10.1016/j.rmed.2016.08.018. Epub 2016 Aug 22.
The relationship of body habitus and respiratory function in Duchenne muscular dystrophy.
1
1
1
1
2
3
Chew K , Carey K , Ho G , Mallitt KA , Widger J , Farrar M .
1
Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South
2
Wales, Sydney, Australia. Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The
University of New South Wales, Sydney, Australia; Department of Respiratory Medicine, Sydney Children's Hospital,
3
Randwick, NSW 2031, Australia. Electronic address: [email protected]. Discipline of Paediatrics, School
of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, Australia;
Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
28. Biomed Res Int. 2016;2016:7063093. Epub 2016 Aug 7.
Influence of Botulinumtoxin A on the Expression of Adult MyHC Isoforms in the Masticatory Muscles in
Dystrophin-Deficient Mice (Mdx-Mice).
1
1
1
1
Botzenhart UU , Wegenstein C , Todorov T , Kunert-Keil C .
1
Department of Orthodontics, Carl Gustav Carus Campus, TU Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
29. PLoS Curr. 2016 Apr 29;8. pii: ecurrents.md.77be6ec30e8caf19529a00417614a072. doi:
10.1371/currents.md.77be6ec30e8caf19529a00417614a072.
Increased taurine in pre-weaned juvenile mdx mice greatly reduces the acute onset of myofibre necrosis and
dystropathology and prevents inflammation.
1
2
3
Terrill JR PhD , Grounds MD , Arthur PG .
1
2
The University of Western Australia. School of Anatomy and Human Biology, the University of Western Australia,
3
Perth, Australia. School of Chemistry and Biochemistry, The University of Western Australia, Perth, Western Australia.
30. Ann Phys Rehabil Med. 2016 Sep;59S:e82-e83. doi: 10.1016/j.rehab.2016.07.190.
Muscle activations during gait in children with Duchenne muscular dystrophy.
1
2
3
4
5
6
7
8
9
Ropars J , Lempereur M , Brochard S , Vuillerot C , Tiffreau V , Cuisset JM , Péréon Y , Leboeuf F , Gross R , Delporte
10
11
L , Delpierre Y .
1
CHRU de Brest, pédiatrie, Brest, France. Electronic address: [email protected].
7
2
Laboratoire de traitement de l'information médicale LaTIM Inserm UMR 1101, Brest, France.
CHRU de Brest, pédiatrie, Brest, France.
4
L'Escale, CNRS UMR 5558, service central de rééducation pédiatrique, Lyon, France.
5
CHU de Lille, service de médecine physique et de réadaptation, Lille, France.
6
CHU de Lille, service de neurologie pédiatrique, Lille, France.
7
Centre de référence maladies neuromusculaires Nantes-Angers, CHU de Nantes, Atlantic Gene Therapy Institute,
Nantes, France.
8
Laboratoire d'analyse du mouvement, CHU de Nantes, Nantes, France.
9
CHU de Nantes, pôle de médecine physique et réadaptation, Nantes, France.
10
Plateforme « mouvement et handicap », hospices civils de Lyon, Lyon, France.
11
Service de rééducation neurologique pédiatrique, centre de l'Arche, Le Mans, France.
3
2005-2015: Ten years clinical experience in treating DMD patients by corticosteroids in Lyon.
1
2
2
2
2
2
Fontaine Carbonnel S , Rippert P , Poirot I , Gachet D , de Lattre C , Vuillerot C .
1
Hospices civiles de Lyon, escale-rééducation pédiatrique, Bron Cedex, France. Electronic address:
[email protected].
2
Hospices civiles de Lyon, escale-rééducation pédiatrique, Bron Cedex, France.
32. Transl Psychiatry. 2016 Sep 27;6(9):e901. doi: 10.1038/tp.2016.174.
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A
and PDE9A.
1,2,3
1
4
1
1,2
1
1
5
Alexander MS , Gasperini MJ , Tsai PT , Gibbs DE , Spinazzola JM , Marshall JL , Feyder MJ , Pletcher MT ,
5
5
4
6
6
4
1,2,3,7,8
Chekler EL , Morris CA , Sahin M , Harms JF , Schmidt CJ , Kleiman RJ , Kunkel LM
.
1
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
2
Departments of Pediatrics and Genetics, Harvard Medical School, Boston, MA, USA.
3
The Stem Cell Program, Boston Children's Hospital, Boston, MA, USA.
4
The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's
Hospital, Harvard Medical School, Boston, MA, USA.
5
Rare Disease Research Unit, Pfizer, Cambridge, MA, USA.
6
Neuroscience Research Unit, Pfizer Global Research and Development, Cambridge, MA, USA.
7
The Manton Center for Orphan Diseases, Boston, MA, USA.
8
Harvard Stem Cell Institute, Cambridge, MA, USA.
33. Dev Med Child Neurol. 2016 Sep 26. doi: 10.1111/dmcn.13277. [Epub ahead of print]
Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy:
DMD Upper Limb PROM.
1,2
3
4
5
6
7
8
4
9
Klingels K , Mayhew AG , Mazzone ES , Duong T , Decostre V , Werlauff U , Vroom E , Mercuri E , Goemans NM ;
Upper Limb Clinical Outcome Group.
1
Department of Rehabilitation Sciences, KU Leuven, Leuven, Belgium. [email protected].
2
Rehabilitation Research Center (REVAL), Biomed, Hasselt University, Diepenbeek, Belgium.
[email protected].
3
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
4
Department of Paediatric Neurology, Catholic University, Rome, Italy.
5
Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
6
Institut de Myologie, GH Pitié Salpêtrière, Paris, France.
7
Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.
8
Duchenne Parent Project, Veenendaal, the Netherlands.
9
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
34. Neuromuscul Disord. 2016 Sep 5. pii: S0960-8966(16)30025-6. doi: 10.1016/j.nmd.2016.09.002. [Epub ahead
of print]
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.
1
2
1
3
2
4
5
6
Polavarapu K , Manjunath M , Preethish-Kumar V , Sekar D , Vengalil S , Thomas P , Sathyaprabha TN , Bharath RD ,
7
Nalini A .
1
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India; Department
of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
8
2
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
Department of Molecular Genetics, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
4
Department of Psychiatric Social Work, National Institute of Mental Health and Neurosciences, Bangalore 560029,
5
India. Department of Neurophysiology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
6
Department of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences,
7
Bangalore 560029, India. Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore
560029, India. Electronic address: [email protected].
3
35. FASEB J. 2016 Sep 21. pii: fj.201600619R. [Epub ahead of print]
CCR2 deficiency does not provide sustained improvement of muscular dystrophy in mdx5cv mice.
1
1
2
3
Zhao W , Wang X , Ransohoff RM , Zhou L .
1
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA; and.
2
Neuroimmunology, Biogen, Cambridge, Massachusetts, USA.
3
Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA; and
[email protected].
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies
36. Nucleus. 2016 Sep 27:0. [Epub ahead of print]
Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in
C. elegans.
1
1
1
Zuela N , Dorfman J , Gruenbaum Y .
1
a Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem , Jerusalem , 91904 , Israel.
Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy
The motor function measure (MFM) in the facio scapulo humeral dystrophy (FSHD) population: Description and
responsiveness.
1
2
3
4
5
6
de Lattre C , Rippert P , Hmaroun D , Sacconi S , Poirot I , Vuillerot C .
1
Hospices civils de Lyon, l'escale MPR pédiatrique, Bron, France. Electronic address: [email protected].
2
Hospices Civils de Lyon, Medical Information departement, Evaluation, Research, Lyon, France.
3
CHU de Montpellier, Research and Innovation Direction, Montpellier, France.
4
CHU de Nice, Neuromuscular Reference Center, Nice, France.
5
Hospices civils de Lyon, l'escale MPR pédiatrique, Bron, France.
6
CNRS UMR 5558, Biometric and Biology Evolutive Laboratory, Health Biostatistic group, Pierre-Benite, France.
38. Rev Neurol (Paris). 2016 Sep 20. pii: S0035-3787(16)30204-1. doi: 10.1016/j.neurol.2016.08.002. [Epub ahead
of print]
Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach.
1
2
3
3
4
Fatehi F , Salort-Campana E , Le Troter A , Bendahan D , Attarian S .
1
Reference center for Neuromuscular disorders and ALS, Timone University Hospital, Aix-Marseille University, 264, rue
Saint-Pierre, 13385 Marseille cedex 05, France; Iranian Center of Neurological research and Shariati hospital,
Neurology Department, Tehran University of Medical Sciences, Tehran, Iran.
2
Saint-Pierre, 13385 Marseille cedex 05, France; Aix-Marseille université, Inserm UMR S 910 Medical Genetics and
Functional Genomics, 13385 Marseille, France.
3
Aix-Marseille université, centre de résonance magnétique biologique et médicale, UMR CNRS 7339, 13385 Marseille,
France.
4
Functional Genomics, 13385 Marseille, France. Electronic address: [email protected].
9
39. Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22.
Respiratory pattern in a FSHD pediatric population.
1
2
3
2
2
4
5
Trucco F , Pedemonte M , Fiorillo C , Tacchetti P , Brisca G , Bruno C , Minetti C .
1
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy. Electronic address:
2
[email protected]. Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
3
4
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy. Center of Myology and
Neurodegenerative Disorders, Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy; Pediatric Neurology
5
and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy. Pediatric Neurology and Muscle Disease Unit, Istituto
Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.
40. Intractable Rare Dis Res. 2016 Aug;5(3):168-76. doi: 10.5582/irdr.2016.01056.
Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy.
1
1
2
Bao B , Maruyama R , Yokota T .
1
Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, University of
Alberta, Edmonton AB, Canada.
2
Department of Medical Genetics, School of Human Development, Faculty of Medicine and Dentistry, University of
Alberta, Edmonton AB, Canada; Muscular Dystrophy Canada Research Chair, University of Alberta, Edmonton AB,
Canada.
Dystrophies myotoniques – Myotonic dystrophies
41. PLoS One. 2016 Sep 22;11(9):e0163325. doi: 10.1371/journal.pone.0163325.
Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein
Kinase Cβ.
1
1
1
1
1
2
1
Kim YK , Yadava RS , Mandal M , Mahadevan K , Yu Q , Leitges M , Mahadevan MS .
1
Department of Pathology, University of Virginia, Charlottesville, Virginia, United States of America.
2
The Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway.
of print]
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with
implications for disease classification.
1
2
3
2
2
4
5
6
De Antonio M , Dogan C , Hamroun D , Mati M , Zerrouki S , Eymard B , Katsahian S , Bassez G ; French Myotonic
Dystrophy Clinical Network.
1
Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny,
94010 Créteil, France; Inserm UMRS1138, team22, centre de recherche des cordeliers, 15, rue de l'École de Médecine,
75006 Paris, France.
2
94010 Créteil, France.
3
Institut universitaire de recherche clinique, CHU de Montpellier, 191, avenue du Doyen-Gaston-Giraud, 34090
Montpellier, France.
4
Centre de référence maladies neuromusculaires Paris-Est, institut de myologie, hôpital Pitié-Salpêtrière, 47-83,
boulevard de l'Hôpital, 75013 Paris, France.
5
Inserm UMRS1138, team22, centre de recherche des cordeliers, 15, rue de l'École de Médecine, 75006 Paris, France.
6
94010 Créteil, France. Electronic address: [email protected].
43. Acta Neurol Scand. 2016 Nov;134(5):346-351. doi: 10.1111/ane.12549. Epub 2015 Dec 21.
Five-year study of quality of life in myotonic dystrophy.
1
2
3
3
3
3,4
3
3
Peric S , Vujnic M , Dobricic V , Marjanovic A , Basta I , Novakovic I , Lavrnic D , Rakocevic-Stojanovic V .
1
Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
[email protected].
2
Department of Pathophysiology, Faculty of Medicine, University of Banja Luka, Banja Luka, Republic of Srpska, Bosnia
and Herzegovina.
10
3
4
Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
44. Rare Dis. 2016 Aug 19;4(1):e1225644. eCollection 2016.
Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I.
1
1
1
1
1
Bondy-Chorney E , Crawford Parks TE , Ravel-Chapuis A , Jasmin BJ , Côté J .
1
Department of Cellular and Molecular Medicine, University of Ottawa, Center for Neuromuscular Disease , Ottawa,
Ontario, Canada.
45. Neuropsychiatr Dis Treat. 2016 Sep 19;12:2367-2372. eCollection 2016.
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK
repeats at screening of 330 children with autism.
1
1
1
1
2
3
4
4
1
Musova Z , Hancarova M , Havlovicova M , Pourova R , Hrdlicka M , Kraus J , Trkova M , Stejskal D , Sedlacek Z .
1
Department of Biology and Medical Genetics.
2
Department of Child Psychiatry.
3
Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol.
4
Gennet, Centre for Fetal Medicine, Prague, Czech Republic.
46. J Clin Anesth. 2016 Nov;34:21-8. doi: 10.1016/j.jclinane.2016.03.035. Epub 2016 May 2.
Anesthetic management of a myotonic dystrophy patient with paraganglionoma.
1
2
2
3
Subramaniam A , Grauer R , Beilby D , Tiruvoipati R .
1
Monash University, Clayton, Victoria, Australia; Frankston Hospital, Peninsula Health, Frankston, Victoria, Australia.
2
Box Hill Hospital, Eastern Health, Box Hill, Victoria, Australia.
3
Monash University, Clayton, Victoria, Australia; Frankston Hospital, Peninsula Health, Frankston, Victoria, Australia.
47. PLoS Genet. 2016 Sep 28;12(9):e1006316. doi: 10.1371/journal.pgen.1006316. eCollection 2016.
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic
Dystrophy.
1
1
2
3
1
4
4
5,6,7
Wagner SD , Struck AJ , Gupta R , Farnsworth DR , Mahady AE , Eichinger K , Thornton CA , Wang ET , Berglund
1,7
JA .
1
Department of Chemistry and Biochemistry, Institute of Molecular Biology, University of Oregon, Eugene, Oregon,
United States of America.
2
Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America.
3
Department of Biology, Institute of Molecular Biology, University of Oregon, Eugene, Oregon, United States of America.
4
Department of Neurology, University of Rochester Medical Center, Rochester, New York, United States of America.
5
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.
6
Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts,
7
Department of Biochemistry & Molecular Biology, Center for NeuroGenetics, University of Florida, Gainesville, Florida,
The motor function measure (MFM) in the myotonic dystrophy type 1 population: Description and
responsiveness.
1
2
3
4
5
6
de Lattre C , Rippert P , Bassez G , Hamroun D , Poirot I , Vuillerot C .
1
Hospices civils de Lyon, l'escale MPR pédiatrique, Bron, France. Electronic address: [email protected].
2
Hospices civils de Lyon, Medical Information Departement, Lyon, France.
3
AP-HP, Neuromuscular Reference Center, GH Henri-Mondor, Creteil, France.
4
CHU de Montpellier, Research and Innovation Direction, Montpellier, France.
5
Hospices civils de Lyon, l'escale MPR pédiatrique, Bron, France.
6
CNRS UMR 5558, Biométric and Biology Evolutive Laboratory, Health Biostatistic group, Lyon, France.
11
49. Dev Med Child Neurol. 2016 Sep 27. doi: 10.1111/dmcn.13282. [Epub ahead of print]
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart
review.
1,2
3,4,5
6
7
3,6
3
3,6
Gagnon C , Kierkegaard M , Blackburn C , Chrestian N , Lavoie M , Bouchard MF , Mathieu J .
1
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke,
Sherbrooke, QC, Canada. [email protected].
2
Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital
Jonquière, Saguenay, QC, Canada. [email protected].
3
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke,
Sherbrooke, QC, Canada.
4
Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
5
Functional Area Occupational Therapy & Physiotherapy, Allied Health Professionals Function, Karolinska University
Hospital, Stockholm, Sweden.
6
Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital
Jonquière, Saguenay, QC, Canada.
7
Department of Paediatric Neurology, Paediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University,
QC, Canada.
50. Can J Neurol Sci. 2016 Sep;43(5):678-86. doi: 10.1017/cjn.2016.257.
Myotonic Dystrophy and Huntington's Disease Care: "We Like to Think We're Making a Difference".
1
1
2
3
4
LaDonna KA , Watling CJ , Ray SL , Piechowicz C , Venance SL .
1
1Centre for Education Research & Innovation,Schulich School of Medicine & Dentistry,Western
University,London,Ontario,Canada.
2
2Faculty of Health Sciences,Western University,Arthur Labatt Family School of Nursing,London,Ontario,Canada.
3
3Clinical Neurological Sciences,London Health Sciences Centre-University Hospital,London,Ontario,Canada.
4
4Clinical Neurological Sciences,Schulich School of Medicine & Dentistry,Western University and London Health
Sciences Centre-University Hospital,London,Ontario,Canada.
51. Expert Rev Mol Diagn. 2016 Sep 24. [Epub ahead of print]
Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on tripletprimed PCR and melt curve analysis.
1
2,3
4,5,6
1,7,8
Lian M , Law HY , Lee CG , Chong SS .
1
a Khoo Teck Puat - National University Children's Medical Institute, National University Health System , Singapore.
2
d Department of Pediatric Medicine , KK Women's and Children's Hospital , Singapore.
3
e Pediatrics Academic Clinical Program , Duke-NUS Graduate Medical School , Singapore.
4
c Departments of Biochemistry , Yong Loo Lin School of Medicine, National University of Singapore , Singapore.
5
f Cancer and Stem Cell Biology Program , Duke-NUS Graduate Medical School , Singapore.
6
g Division of Medical Sciences , National Cancer Center , Singapore.
7
b Departments of Pediatrics , Yong Loo Lin School of Medicine, National University of Singapore , Singapore.
8
h Department of Laboratory Medicine , National University Hospital, National University Health System , Singapore.
Maladie de Pompe – Pompe disease
52. J Child Neurol. 2016 Sep 21. pii: 0883073816665549. [Epub ahead of print]
Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.
1
2
3
4
5
6
Lai CJ , Hsu TR , Yang CF , Chen SJ , Chuang YC , Niu DM .
1
Department of Physical Medicine and Rehabilitation, Taipei Veteran General Hospital, Taipei, Taiwan School of
Medicine, National Yang-Ming University, Taipei, Taiwan.
2
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan Institute of Clinical Medicine, National
Yang-Ming University, Taipei, Taiwan.
3
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
4
Department of Pediatrics, Tri-Service General Hospital and Department of Microbiology and Immunology, National
Defense Medical Center, Taipei, Taiwan Penghu Branch, Tri-Service General Hospital, Magong city, Penghu County,
Taiwan.
5
Department of Physical Medicine and Rehabilitation, Taipei Veteran General Hospital, Taipei, Taiwan Department of
Human Development and Family Studies, National Taiwan Normal University, Taipei, Taiwan.
12
6
Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan Taiwan Clinical Trial Consortium in Fabry
Disease, Taipei, Taiwan [email protected].
53. Biochimie. 2016 Sep 21. pii: S0300-9084(16)30190-0. doi: 10.1016/j.biochi.2016.09.011. [Epub ahead of print]
Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders.
1
2
3
Kuech EM , Brogden G , Naim HY .
1
Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany. Electronic
2
Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany; Fish Disease
Research Unit, University of Veterinary Medicine Hannover, Hannover, Germany.
3
Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
54. Biochem Biophys Res Commun. 2016 Sep 28. pii: S0006-291X(16)31619-9. doi: 10.1016/j.bbrc.2016.09.145.
[Epub ahead of print]
Drug induced exocytosis of glycogen in Pompe disease.
1
2
3
4
5
Turner CT , Fuller M , Hopwood JJ , Meikle PJ , Brooks DA .
1
Regenerative Medicine, Future Industries Institute, University of South Australia, Adelaide, Australia.
2
Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
3
Lysosomal Diseases Research Unit, SA Health and Medical Research Institute, Adelaide, Australia.
4
Baker IDI Heart and Diabetes Institute, Melbourne, Australia.
5
Mechanisms in Cell Biology and Diseases Research Group, School of Pharmacy and Medical Science, Division of
Health Sciences, University of South Australia, Adelaide 5001, Australia. Electronic address:
[email protected].
55. Mol Genet Metab. 2016 Sep 28. pii: S1096-7192(16)30283-9. doi: 10.1016/j.ymgme.2016.09.006. [Epub ahead
of print]
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a
PRKAG2 mutation.
1
1
1
2
3
4
5
Austin SL , Chiou A , Sun B , Case LE , Govendrageloo K , Hansen P , Kishnani PS .
1
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
2
Doctor of Physical Therapy Division, Duke University Medical Center, Durham, NC, USA.
3
Pediatric Cardiology, Netcare Sunninghill Hospital, Johannesburg, South Africa.
4
Pediatric Neurology, Netcare Waterfall City Hospital, Johannesburg, South Africa.
5
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic
of print]
Clinical manifestation of late onset Pompe disease patients in Hong Kong.
1
2
2
3
4
5
5
Chu YP , Sheng B , Lau KK , Chan HF , Kam GY , Lee HH , Mak CM .
1
Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong. Electronic address: [email protected].
2
Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong.
3
Department of Medicine & Geriatrics, Queen Elizabeth Hospital, Hong Kong.
4
Department of Medicine & Geriatrics, United Christian Hospital, Hong Kong.
5
Department of Pathology, Princess Margaret Hospital, Hong Kong.
57. Muscle Nerve. 2016 Sep 26. doi: 10.1002/mus.25417. [Epub ahead of print]
Muscle MRI of classic infantile Pompe patients: Fatty substitution and edema-like changes.
1
2
3
4
5
6
7
8
8
9
Pichiecchio A , Rossi M , Cinnante C , Colafati SG , De Icco R , Parini R , Menni F , Furlan F , Burlina A , Sacchini M ,
9
10
10
11
11
12
Donati MA , Fecarotta S , Casa RD , Deodato F , Taurisano R , Di Rocco M .
1
Neuroradiology Department, C. Mondino National Neurological Institute, Pavia, Italy. [email protected].
2
Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
3
Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico,
University of Milan, Milan, Italy.
4
Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
13
5
Neurology Unit; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Unit of Rare Metabolic Diseases, San Gerardo Hospital, Monza, Italy.
7
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di
Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
8
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy.
9
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy.
10
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy.
11
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
12
Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
6
of print]
The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and
nonspecific hyperCKemia: A multicenter study.
1
2
3
4
5
5
3
3
3
Ünver O , Hacıfazlıoğlu NE , Karatoprak E , Güneş AS , Sağer G , Kutlubay B , Sözen G , Saltık S , Yılmaz K , Kara
4
5
B , Türkdoğan D .
1
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.
2
Electronic address: [email protected]. Department of Pediatric Neurology, Zeynep Kamil Maternity and Children's
3
Training and Research Hospital, İstanbul, Turkey. Department of Pediatric Neurology, Medeniyet University, Göztepe
4
Training and Research Hospital, İstanbul, Turkey. Division of Pediatric Neurology, Department of Pediatrics, Kocaeli
5
University Faculty of Medicine, İstanbul, Turkey. Division of Pediatric Neurology, Department of Pediatrics, Marmara
University Faculty of Medicine, İstanbul, Turkey.
Myasthénie autoimmune – Myasthenia gravis
Acquired hemophilia A associated with myasthenia gravis and Isaacs' syndrome.
1
2
2
2
2
2
3
2
Takeda T , Konno A , Kazama T , Suzuki M , Shimizu Y , Iijima M , Tanaka J , Kitagawa K .
1
Department of Neurology, Tokyo Women's Medical University, Japan. Electronic address:
[email protected].
2
Department of Neurology, Tokyo Women's Medical University, Japan.
3
Department of Hematology, Tokyo Women's Medical University, Japan.
Paroxysmal supraventricular tachycardia in anti-musk Myasthenia gravis: A case report.
1
1
1
1
1
2
3
Di Giovanni M , Battisti C , Salvatore S , Tumminelli G , Vinciguerra C , Ruocco G , Federico A .
1
Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences,
University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100 Siena, Italy.
2
Department of Internal Medicine, Cardiovascular Diseases Unit, University of Siena, Siena, Italy.
3
Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences,
University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100 Siena, Italy. Electronic address:
[email protected].
Maintenance immunosuppression in myasthenia gravis.
1
2
Gotterer L , Li Y .
1
Department of Neurology, Cleveland Clinic, Cleveland, OH 44195, USA.
2
Department of Neurology, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address: [email protected].
62. Am J Pathol. 2016 Oct;186(10):2559-68. doi: 10.1016/j.ajpath.2016.05.025.
Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.
1
2
2
2
3
3
4
4
Gomez AM , Stevens JA , Mané-Damas M , Molenaar P , Duimel H , Verheyen F , Cossins J , Beeson D , De Baets
2
2
5
MH , Losen M , Martinez-Martinez P .
1
Neuroimmunology Group, Division of Neuroscience, School for Mental Health and Neuroscience, Maastricht University,
Maastricht, the Netherlands. Electronic address: [email protected].
14
2
Maastricht, the Netherlands.
3
Electron Microscopy Unit, Department of Molecular Cell Biology, Maastricht University, Maastricht, the Netherlands.
4
Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
5
Maastricht, the Netherlands. Electronic address: [email protected].
63. Malays J Med Sci. 2016 Jul;23(4):71-8. doi: 10.21315/mjms2016.23.4.10. Epub 2016 Jun 30.
Thymectomy for Myasthenia Gravis: A 10-year Review of Cases at the Hospital Universiti Sains Malaysia.
1
1
1
2
Muhammed J , Chen CY , Wan Hitam WH , Ghazali MZ .
1
Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150 Kubang
Kerian, Kelantan, Malaysia; Hospital Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
2
Department of Surgery, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150 Kubang Kerian,
Kelantan, Malaysia; Hospital Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.
64. Eur J Paediatr Neurol. 2016 Sep 10. pii: S1090-3798(16)30151-9. doi: 10.1016/j.ejpn.2016.09.001. [Epub
ahead of print]
Juvenile myasthenia gravis in Norway: A nationwide epidemiological study.
1
2
3
4
5
2
6
7
8
Popperud TH , Boldingh MI , Brunborg C , Faiz KW , Heldal AT , Maniaol AH , Müller KI , Rasmussen M , Øymar K ,
9
Kerty E .
1
Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo,
Oslo, Norway. Electronic address: [email protected].
2
Department of Neurology, Oslo University Hospital, Oslo, Norway.
3
Oslo Centre for Biostatistics and Epidemiology, Research Support Services, Oslo University Hospital, Oslo, Norway.
4
Department of Neurology, Akershus University Hospital, Lørenskog, Norway.
5
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
6
Department of Neurology and National Neuromuscular Centre, University Hospital of North Norway, Tromsø, Norway;
Department of Clinical Medicine, UiT - The Artic University of Norway, Tromsø, Norway.
7
Department of Clinical Neuroscience for Children, Section for Child Neurology, Oslo University Hospital, Oslo, Norway;
Unit for Hereditary and Inborn Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo,
Norway.
8
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Pediatrics, Stavanger University
Hospital, Stavanger, Norway.
9
Department of Neurology, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo,
Oslo, Norway.
65. Neurotherapeutics. 2016 Sep 27. [Epub ahead of print]
A Novel Fusion Protein, AChR-Fc, Ameliorates Myasthenia Gravis by Neutralizing Antiacetylcholine Receptor
Antibodies and Suppressing Acetylcholine Receptor-Reactive B Cells.
1
2
3
2
2
3
3
3
3
3
Homma M , Uzawa A , Tanaka H , Kawaguchi N , Kanai T , Nakajima K , Narita M , Hara Y , Maruyama H , Ogawa Y ,
2
2
Himuro K , Kuwabara S .
1
Research Laboratory, Nihon Pharmaceutical Co. Ltd., Chiba, Japan. [email protected].
2
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
3
Research Laboratory, Nihon Pharmaceutical Co. Ltd., Chiba, Japan.
66. Immunol Res. 2016 Sep 28. [Epub ahead of print]
CD19+ Tim-1+ B cells are decreased and negatively correlated with disease severity in Myasthenia Gravis
patients.
1
2,3
2
2
2
2,4
2
2
5
2
2
6
7
Zhang Y , Zhang X , Xia Y , Jia X , Li H , Zhang Y , Shao Z , Xin N , Guo M , Chen J , Zheng S , Wang Y , Fu L ,
8
2
2
2
2
2
2
Xiao C , Geng D , Liu Y , Cui G , Dong R , Huang X , Yu T .
1
Department of Neurology, Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China.
[email protected].
2
3
Department of Neurology, Shenzhen Guangming New District Central Hospital, Shenzhen, China.
4
Department of Neurology, The Third People's Hospital of Xuzhou, Xuzhou, Jiangsu, China.
5
Department of Emergency Medicine, Huai'an First People's Hospital, Nanjing Medical University, Huai'an, Jiangsu,
China.
15
6
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong, China.
Department of Pathogenic Biology and Lab of Infection and Immunology, Xuzhou Medical College, Xuzhou, Jiangsu,
China.
8
[email protected].
7
67. Autoimmunity. 2016 Aug 11:1-8. [Epub ahead of print]
Effect of therapeutic plasma exchange on immunoglobulins in myasthenia gravis.
1
1
1
1
2
3
4
5
5
Guptill JT , Juel VC , Massey JM , Anderson AC , Chopra M , Yi JS , Esfandiari E , Buchanan T , Smith B , Atherfold
5
6
2
P , Jones E , Howard JF Jr .
1
a Division of Neuromuscular Disease, Department of Neurology, Duke University Medical Center, Durham, NC, USA .
2
b Neuromuscular Disorders Section, Department of Neurology, The University of North Carolina, Chapel Hil , NC, USA .
3
c Division of Surgical Sciences, Department of Surgery , Duke University Medical Center , Durham , NC , USA .
4
5
6
d Takeda TDC Europe , London , UK . e UCB Biosciences , Slough , UK f Veramed Limited , West London , UK.
68. J Am Geriatr Soc. 2016 Sep 29. doi: 10.1111/jgs.14359. [Epub ahead of print]
Myasthenia Gravis Manifesting As Head Drop in an Elderly Adult with Parkinson's Disease.
1
1
1
1
1
1
1
1
Aiba Y , Iwakawa M , Sakakibara R , Tsuyusaki Y , Tateno F , Kishi M , Tateno H , Ogata T .
1
Division of Neurology, Department of Internal Medicine, Sakura Medical Center, Toho University, Sakura, Japan.
69. Medicine (Baltimore). 2016 Sep;95(39):e5000. doi: 10.1097/MD.0000000000005000.
Low serum albumin concentrations are associated with disease severity in patients with myasthenia gravis.
1
Weng YY , Yang DH, Qian MZ, Wei MM, Yin F, Li J, Li X, Chen Y, Ding ZN, He YB, Zhang X.
1
aDepartment of Neurology, the First Affiliated Hospital of Wenzhou Medical University
bDepartment of Endocrinology, the Third Affiliated Hospital of the Wenzhou Medical University
cDepartment of Anesthesiology, the First Affiliated Hospital of Wenzhou Medical University
dSchool of the First Clinical Medical Sciences, Wenzhou Medical University, Wenzhou, China.
Minimal change disease in a patient with myasthenia gravis: A case report.
1
Tsai JL , Tsai SF.
1
aDepartment of Family Medicine, Cheng Ching General Hospital
bDivision of Nephrology, Department of Internal Medicine, Taichung Veterans General Hospital
cSchool of Medicine, China Medical University
dDepartment of Life Science, Tunghai University, Taichung
eDepartment of Medicine, Nation Yang Ming University, Taipei, Taiwan.
71. Ir Med J. 2016 Feb 19;109(2):355.
Myasthenia gravis: a population-based epidemiological study.
1
1
1
1
1
Rutledge S , Kenny O , O'Riordan S , McGuigan C , Tubridy N .
1
Neurology Department, St Vincents University Hospital, Elm Park, Dublin 4.
72. J Clin Anesth. 2016 Nov;34:350-1. doi: 10.1016/j.jclinane.2016.05.033. Epub 2016 Jun 4.
Anesthesia management in the coexistence of myasthenia gravis and parkinsonism.
1
2
2
2
Ozer AB , Catak T , Ozdemir M , Kilinc M .
1
Department of Anesthesiology and Intensive Care, Firat University Medical School, 23119 Elazig, Turkey. Electronic
2
Department of Anesthesiology and Intensive Care, Firat University Medical School, 23119 Elazig, Turkey.
73. Expert Rev Neurother. 2016 Oct 3. [Epub ahead of print]
Myasthenia gravis: recent advances in immunopathology and therapy.
1
1
Lee JI , Jander S .
16
1
a University Hospital Düsseldorf , Düsseldorf , Germany.
74. Semin Neurol. 2016 Oct;36(5):419-424. Epub 2016 Sep 23.
Myasthenia Gravis.
1
Drachman DB .
1
Department of Neurology & Neuroscience, Johns Hopkins School of Medicine, Baltimore, Maryland.
75. Pediatr Neurol. 2016 Aug 20. pii: S0887-8994(16)30371-X. doi: 10.1016/j.pediatrneurol.2016.08.005. [Epub
ahead of print]
Myopathy in Childhood Muscle-Specific Kinase Myasthenia Gravis.
1
2
2
2
2
2
Kirzinger L , Khomenko A , Schulte-Mattler W , Backhaus R , Platen S , Schalke B .
1
Department of Neurology, University of Regensburg, Regensburg, Germany. Electronic address:
[email protected].
2
Department of Neurology, University of Regensburg, Regensburg, Germany.
Myopathies congénitales – Congenital myopathies
of print]
Nemaline myopathies: State of the art.
1
2
Malfatti E , Romero NB .
1
Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, bâtiment Babinski groupe hospitalier
Pitié-Salpêtrière, 47, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Unité de morphologie neuromusculaire de
l'institut de myologie, université UP-MC Paris 6 UM74, Inserm UMRS 974, CNRS UMR 7215, centre de référence de la
pathologie neuromusculaire Paris-Est, groupe hospitalier Pitié-Salpêtrière, bâtiment Risler, 47, boulevard de l'Hôpital,
75651 Paris cedex 13, France.
2
Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, bâtiment Babinski groupe hospitalier
Pitié-Salpêtrière, 47, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Unité de morphologie neuromusculaire de
l'institut de myologie, université UP-MC Paris 6 UM74, Inserm UMRS 974, CNRS UMR 7215, centre de référence de la
pathologie neuromusculaire Paris-Est, groupe hospitalier Pitié-Salpêtrière, bâtiment Risler, 47, boulevard de l'Hôpital,
75651 Paris cedex 13, France. Electronic address: [email protected].
of print]
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle
ryanodine receptor dysfunction.
1
2
3
Voermans NC , Snoeck M , Jungbluth H .
1
Department of Neurology, Radboud University Medical Centre, R. Postlaan 4 (route 935), P.O. Box 9101, 6500
2
Nijmegen (935), The Netherlands. Electronic address: [email protected]. Department of Anaesthesia,
3
Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands. Department of Paediatric Neurology, Neuromuscular
Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK; Randall Division of Cell
and Molecular Biophysics, Muscle Signalling Section, London, UK; Department of Basic and Clinical Neuroscience,
Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London, UK.
78. Clin Exp Pharmacol Physiol. 2016 Oct 1. doi: 10.1111/1440-1681.12676. [Epub ahead of print]
The Core Skeletal Muscle Ryanodine Receptor Calcium Release Complex.
1
2
1
3
Dulhunty AF , Wei-LaPierre L , Casarotto MG , Beard NA .
1
2
John Curtin School of Medical Research, Australian National University, ACT, 2601, Australia. Department of
3
Physiology and Pharmacology, University of Rochester Medical Center, Rochester, NY, 14642-8711. Health Research
Institute, University of Canberra, Australian Capital Territory, Canberra, Australia, 2601. [email protected].
17
79. PLoS One. 2016 Sep 22;11(9):e0163299. doi: 10.1371/journal.pone.0163299.
Time Course Analysis of Skeletal Muscle Pathology of GDE5 Transgenic Mouse.
1
1
1
1
1
1
2
1
Hashimoto T , Yang B , Okazaki Y , Yoshizawa I , Kajihara K , Kato N , Wada M , Yanaka N .
1
Graduate School of Biosphere Science, Hiroshima University, Higashi-Hiroshima, Japan.
2
Graduate School of Integrated Arts and Sciences, Hiroshima University, Higashi-Hiroshima, Japan.
Myopathies inflammatoires – Inflammatory myopathies
80. N Z Med J. 2016 Sep 23;129(1442):86-8.
Rare coexistence of dermatomyositis and smooth muscle antibodies, with abnormal liver function tests.
1
2
3
4
Quincey VA , Solanki KK , Lamont D , Rademaker M .
1
2
Rheumatology Department, Waikato Hospital, Hamilton. Rheumatology Department, Waikato District Health Board,
3
4
Hamilton. Histopathology Department, Waikato District Health Board, Hamilton. Dermatology Department, Waikato
District Health Board, Hamilton.
81. Joint Bone Spine. 2016 Sep 19. pii: S1297-319X(16)30132-4. doi: 10.1016/j.jbspin.2016.07.010. [Epub ahead
of print]
Pulmonary embolism induced by methotrexate in a dermatomyositis patient.
1
2
3
4
5
3
Benzaquen M , Rouby F , Bobot M , Lebowitz D , Serratrice J , Belenotti P .
1
Service de Dermatologie, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, Chemin des Bourrely, 13015
Marseille, France. Electronic address: [email protected].
2
Centre Régional de Pharmacovigilance Marseille Provence Corse, Service de Pharmacologie clinique, Hôpital de La
3
Timone, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille Université, 13015 Marseille, France. Service de
Médecine interne, Hôpital de La Timone, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille Université, 13005
4
Marseille, France. Service de Médecine interne générale, Hôpitaux Universitaires de Genève, 1205 Geneva,
5
Switzerland. Service de Médecine interne, Hôpital de La Timone, Assistance Publique-Hôpitaux de Marseille, AixMarseille Université, 13005 Marseille, France; Service de Médecine interne générale, Hôpitaux Universitaires de
Genève, 1205 Geneva, Switzerland.
82. J Clin Rheumatol. 2016 Oct;22(7):387-9. doi: 10.1097/RHU.0000000000000444.
Universalis Calcinosis in Adult Dermatomyositis: An "Anti-NXP2 Syndrome".
1
Fodil D , Meyer A, Salah SS, Sibilia J, Attal N, Tafiani-Lefkir S.
1
Service de Rhumatologie, Centre Hospitalo-universitaire de Beni Messous, Algiers, [email protected]
Service de Rhumatologie, Centre Hospitalo-universitaire de Beni Messous, Algiers, Algeria. Service de Rhumatologie,
Centre de Référence des Maladies Auto-immunes Rares, Centre Hospitalo-Universitaire de Strasbourg, Strasbourg,
France. Département d'Immunologie, Institut Pasteur d'Algérie, Algiers, Algeria. Service de Rhumatologie, Centre de
Référence des Maladies Auto-immunes Rares, Centre Hospitalo-Universitaire de Strasbourg, Strasbourg, France.
Département d'Immunologie, Institut Pasteur d'Algérie, Algiers, Algeria. Service de Rhumatologie, Centre Hospitalouniversitaire de Beni Messous, Algiers, Algeria.
83. BMJ Case Rep. 2016 Sep 23;2016. pii: bcr2016216860. doi: 10.1136/bcr-2016-216860.
Cardiac tamponade as a manifestation of severe dermatomyositis.
1
2
2
Kurth BJ , Wagler V , Keith M .
1
Department of Internal Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
2
Department of Rheumatology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
84. Rheumatology (Oxford). 2016 Sep 27. pii: kew330. [Epub ahead of print]
Trachyonychia in juvenile dermatomyositis: nail as a mirror to disease activity.
1
1
2
Razmi T M , Vinay K , Parsad D .
1
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research,
2
Chandigarh, India. Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical
Education and Research, Chandigarh, India [email protected].
18
Inflammatory myopathies and lymphoma.
1
Stübgen JP .
1
Department of Neurology, Weill Cornell Medical College/New York Presbyterian Hospital, 525 East 68th Street, New
York, NY 10065-4885, USA. Electronic address: [email protected].
86. Ann R Coll Surg Engl. 2016 Sep 23:e1-e4. [Epub ahead of print]
Paraneoplastic polymyositis presenting as a clinically occult breast cancer.
1
1
1
1
Merali N , Yousuff M , Pronisceva V , Poddar A .
1
Queen Elizabeth Queen Mother Hospital, East Kent Hospitals University NHS Foundation Trust , UK.
87. J Clin Rheumatol. 2016 Oct;22(7):376-80. doi: 10.1097/RHU.0000000000000427.
Necrotizing Autoimmune Myopathy: A Unique Subset of Idiopathic Inflammatory Myopathy.
1
Carroll MB , Newkirk MR, Sumner NS.
1
From the *Keesler Medical Center, Ocean Springs, MS; and †Brooke Army Medical Center, Fort Sam Houston, TX.
88. Arthritis Rheumatol. 2016 Oct 1. doi: 10.1002/art.39942. [Epub ahead of print]
Circulating CD8+CD28null Cytotoxic T Cells in Polymyositis. A possible Biomarker?
1
2
3
4
Iannone F , Cauli A , Lopalco G , Cantarini L .
1
Rheumatology Unit, Medical School, University of Bari. [email protected].
2
Rheumatology Unit, Department of Medical Sciences, Policlinico of the University of Cagliari, Monserrato.
3
Rheumatology Unit, Medical School, University of Bari.
4
Department of Rheumatology, Policlinico Le Scotte, University of Siena, Italy.
89. J Dermatol Sci. 2016 Sep 23. pii: S0923-1811(16)30806-4. doi: 10.1016/j.jdermsci.2016.09.013. [Epub ahead
of print]
Enzyme-linked immunosorbent assays for detection of anti-transcriptional intermediary factor-1 gamma and
anti-Mi-2 autoantibodies in dermatomyositis.
1
2
2
3
4
5
6
7
8
9
Fujimoto M , Murakami A , Kurei S , Okiyama N , Kawakami A , Mishima M , Sato S , Seishima M , Suda T , Mimori T ,
10
11
Takehara K , Kuwana M .
1
Department of Dermatology, School of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575,
Japan. Electronic address: [email protected].
2
Medical & Biological Laboratories Co., Ltd., 4-5-3 10F, Sakae, Naka-ku, Nagoya, Aichi 406-0008, Japan.
3
Department of Dermatology, School of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575,
Japan.
4
Unit of Translational Medicine, Department of Immunology and Rheumatology, Nagasaki University School of
Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki City, Nagasaki 852-8501, Japan.
5
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Yoshida-Honmachi, Sakyo-ku,
Kyoto City, Kyoto 606-8501, Japan.
6
Division of Rheumatology, Department of Internal Medicine, Tokai University, School of Medicine, 143 Shimokasuya,
Isehara, Kanagawa 259-1193, Japan.
7
Department of Dermatology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu City, Gifu 501-1194,
Japan.
8
Second Division, Department of Internal Medicine, Hamamatsu University School of Medicine, 1-20-1 Handayama,
Higashi, Hamamatsu, Shizuoka 431-3192, Japan.
9
Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto,
Yoshida-Honmachi, Sakyo-ku, Kyoto City, Kyoto 606-8501, Japan.
10
Department of Dermatology, School of Medicine, Institute of Medical, Pharmaceutical, and Health Sciences, Kanazawa
University, 13-1 Takaramachi, Kanazawa, Ishikawa 920-8641, Japan.
11
Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi,
Bunkyo-ku, Tokyo 113-8603, Japan.
90. Case Rep Rheumatol. 2016;2016:7810916. Epub 2016 Sep 14.
A Curious Case of Proximal Muscle Weakness with Eosinophilic Polymyositis.
1
1
1
1
2
2
1
3
Harris C , Ali R , Perez-Downes J , Baidoun F , DeLima M , Shah J , Aung W , Makary RF .
19
1
Internal Medicine Department, University of Florida College of Medicine, Jacksonville, FL, USA.
Neurology Department, University of Florida College of Medicine, Jacksonville, FL, USA.
3
Pathology and Laboratory Medicine Department, University of Florida College of Medicine, Jacksonville, FL, USA.
2
of print]
Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis.
1
1
2
Lavian M , Goyal N , Mozaffar T .
1
Department of Neurology, University of California, Irvine, Irvine, CA, United States.
2
Department of Neurology, University of California, Irvine, Irvine, CA, United States; Department of Orthopaedic Surgery,
University of California, Irvine, Irvine, CA, United States. Electronic address: [email protected].
Pulmonary arterial hypertension in idiopathic inflammatory myopathies: Data from the French pulmonary
hypertension registry and review of the literature.
1
Sanges S , Yelnik CM, Sitbon O, Benveniste O, Mariampillai K, Phillips-Houlbracq M, Pison C, Deligny C, Inamo J,
Cottin V, Mouthon L, Launay D, Lambert M, Hatron PY, Rottat L, Humbert M, Hachulla E.
1
aUniversity of Lille, INSERM U995, LIRIC, Lille Inflammation Research International Center bCHU Lille, Département
de Médecine Interne et Immunologie Clinique cCentre National de Référence Maladies Systémiques et Auto-immunes
Rares (Sclérodermie Systémique), Lille dUniversity Paris-Sud, Faculté de Médecine, Université Paris-Saclay eAP-HP,
Service de Pneumologie, DHU Thorax Innovation, Hôpital Bicêtre, Le Kremlin-Bicêtre fINSERM UMR_S999, LabEx
LERMIT, Centre Chirurgical Marie-Lannelongue, Le Plessis-Robinson gDépartement de Médecine Interne et
Immunologie Clinique, Centre National de Référence Maladies Neuromusculaires, Hôpital La Pitié-Salpêtrière, AP-HP,
INSERM U974, Université Paris VI Pierre et Marie Curie, Paris hClinique Universitaire de Pneumologie, Centre
Hospitalier Universitaire, Grenoble, France iUniversité Joseph Fourier, Grenoble jService de médecine interne et
rhumatologie 3C/5D, Centre Hospitalier Universitaire Pierre Zobda-Quitman kDépartement de Cardiologie, Centre
Hospitalier Universitaire Pierre Zobda-Quitman, Fort-de-France, Martinique lHospices Civils de Lyon, Service de
Pneumologie, Centre de Compétence de l'Hypertension Pulmonaire, Centre de Référence des Maladies Pulmonaires
Rares, Lyon mService de Médecine Interne, Centre de Référence des Vascularites Nécrosantes et de la Sclérodermie
Systémique, Université Paris Descartes, Hôpital Cochin, Paris, France.
Functionnal improvement with a rehabilitation programme in dermatmyositis an polymyositis: Results of a
randomized controlled trial.
1
2
2
3
2
4
Tiffreau V , Kopciuch F , Thevenon A , Rannou F , Hachulla E , Thoumie P .
1
CHRU de Lille, MPR, Lille, France. Electronic address: [email protected].
2
CHRU de Lille, MPR, Lille, France.
3
AP-HP, hôpital Cochin, MPR, Paris, France.
4
AP-HP, hôpital Rotschild, MPR, Paris, France.
94. Autoimmun Rev. 2016 Sep 22. pii: S1568-9972(16)30214-2. doi: 10.1016/j.autrev.2016.09.019. [Epub ahead of
print]
Dysregulated innate immune function in the aetiopathogenesis of idiopathic inflammatory myopathies.
1
2
3
4
3
Day J , Otto S , Proudman S , Hayball JD , Limaye V .
1
Experimental Therapeutics Laboratory, Hanson Institute and Sansom Institute, School of Pharmacy and Medical
Science, University of South Australia, Adelaide, SA, Australia; Royal Adelaide Hospital, Adelaide, SA, Australia.
2
Royal Adelaide Hospital, Adelaide, SA, Australia; South Australia Pathology, Adelaide, SA, Australia.
3
Royal Adelaide Hospital, Adelaide, SA, Australia; Discipline of Medicine, University of Adelaide, Adelaide, SA, Australia.
4
Experimental Therapeutics Laboratory, Hanson Institute and Sansom Institute, School of Pharmacy and Medical
Science, University of South Australia, Adelaide, SA, Australia; Robinson Research Institute, Discipline of Obstetrics and
Gynaecology, School of Medicine, The University of Adelaide, Adelaide, SA, Australia.
20
of print]
Treatment and outcomes in necrotising autoimmune myopathy: An Australian perspective.
1
2
3
3
4
Ashton C , Junckerstorff R , Bundell C , Hollingsworth P , Needham M .
1
Fiona Stanley Hospital, Murdoch, WA, Australia. Electronic address: [email protected].
2
Section of Neuropathology, PathWest, Royal Perth Hospital, Perth, WA, Australia; School of Pathology and Laboratory
Medicine, University of Western Australia, Nedlands, WA, Australia.
3
Department of Immunology, PathWest, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia.
4
Fiona Stanley Hospital, Murdoch, WA, Australia; West Australian Neuroscience Research Institute, Queen Elizabeth II
Medical Centre, Nedlands, WA, Australia; Murdoch University, Murdoch, WA, Australia; Notre Dame University,
Fremantle, WA, Australia.
96. Nat Rev Rheumatol. 2016 Sep 22. doi: 10.1038/nrrheum.2016.147. [Epub ahead of print]
Altered dendritic cell functions in autoimmune diseases: distinct and overlapping profiles.
1
2
Coutant F , Miossec P .
1
Department of Immunobiology, University of Clermont Ferrand, Hôpital Gabriel Montpied, 58 rue de Montalembert,
630003 Clermont Ferrand, France.
2
Immunogenomics and Inflammation Research Unit EA 4130, Department of Clinical Immunology and Rheumatology,
University of Lyon, Hôpital Edouard Herriot, 5 place d'Arsonval, 69437 Lyon, France.
Myopathies métaboliques – Metabolic myopathies
of print]
Exercise training in metabolic myopathies.
1
Vissing J .
1
Copenhagen Neuromuscular Center, section 6921, Department of Neurology, University of Copenhagen,
Rigshospitaletn, Juliane Maries Vej 28, DK-2100 Copenhagen, Danemark. Electronic address: [email protected].
of print]
What have we learned about glycogenosis in recent years?
1
Laforêt P .
1
Centre de référence de pathologie neuromusculaire Paris-Est, institut de myologie, groupe hospitalier Pitié-Salpêtrière,
Assistance publique-Hôpitaux de Paris, 47-83, boulevard de l'Hôpital, 75651 Paris, France. Electronic address:
[email protected].
99. Elife. 2016 Sep 24;5. pii: e21635. doi: 10.7554/eLife.21635. [Epub ahead of print]
Lysosomal membrane glycoproteins bind cholesterol and contribute to lysosomal cholesterol export.
1
1
Li J , Pfeffer SR .
1
Department of Biochemistry, Stanford University School of Medicine, Stanford, United States.
100. Circulation. 2016 Sep 27. pii: CIRCULATIONAHA.115.019847. [Epub ahead of print]
Amelioration of X-Linked Related Autophagy Failure in Danon Disease with DNA Methylation Inhibitor.
1
2
3
4
5
4
4
4
4
4
6
Ng KM , Mok PY , Butler AW , Ho JC , Choi SW , Lee YK , Lai WH , Au KW , Lau YM , Wong LY , Esteban MA , Siu
1
7
5
8
CW , Sham PC , Colman A , Tse HF .
1
Cardiology Division, Department of Medicine, Queen Mary Hospital, the University of Hong Kong, Hong Kong SAR,
China & Research Center of Heart, Brain, Hormone and Healthy Aging, Li Ka Shing Faculty of Medicine, the University
of Hong Kong, Hong Kong SAR, China.
2
Stem Cell Disease Models, ASTAR Institute of Medical Biology, Singapore.
3
Department of Psychiatry, Queen Mary Hospital, the University of Hong Kong; Hong Kong SAR, China & MRC Social
Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, United Kingdom.
21
4
China.
5
Department of Psychiatry, Queen Mary Hospital, the University of Hong Kong; Hong Kong SAR, China.
6
Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine,
Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China & Hong Kong Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine, the University of Hong Kong and Guangzhou
Institutes of Biomedicine and Health, China.
7
Department of Psychiatry, Queen Mary Hospital, the University of Hong Kong; Hong Kong SAR, China; Centre for
Genomic Sciences, Li Ka Shing Faculty of Medicine, the University of Hong Kong; Hong Kong SAR, China; State Key
Laboratory for Cognitive and Brain Sciences, Li Ka Shing Faculty of Medicine, the University of Hong Kong, Hong Kong
SAR, China.
8
China; Research Center of Heart, Brain, Hormone and Healthy Aging, Li Ka Shing Faculty of Medicine, the University of
Hong Kong, Hong Kong SAR, China; Hong Kong - Guangdong Joint Laboratory on Stem Cell and Regenerative
Medicine, the University of Hong Kong and Guangzhou Institutes of Biomedicine and Health, China; Shenzhen Institutes
of Research and Innovation, the University of Hong Kong, Hong Kong SAR, China [email protected].
Myopathies mitochondriales – Mitochondrial myopathies
101. Am J Hum Genet. 2016 Sep 21. pii: S0002-9297(16)30339-1. doi: 10.1016/j.ajhg.2016.08.014. [Epub ahead of
print]
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss
of Mitochondrial DNA Copy Number.
1
2
3
4
2
1
1
3
5
6
Thompson K , Majd H , Dallabona C , Reinson K , King MS , Alston CL , He L , Lodi T , Jones SA , Fattal-Valevski A ,
7
8
9
10
11
12
12
13
4
Fraenkel ND , Saada A , Haham A , Isohanni P , Vara R , Barbosa IA , Simpson MA , Deshpande C , Puusepp S ,
14
15
16
4
17
3
1
2
Bonnen PE , Rodenburg RJ , Suomalainen A , Õunap K , Elpeleg O , Ferrero I , McFarland R , Kunji ER , Taylor
18
RW .
1
Tyne NE2 4HH, UK.
2
The Medical Research Council, Mitochondrial Biology Unit, Cambridge Biomedical Campus, Wellcome Trust/MRC
Building, Hills Road, Cambridge CB2 0XY, UK.
3
Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
4
Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, 51014 Tartu, Estonia; Department of
Genetics, United Laboratories, Tartu University Hospital, 51014 Tartu, Estonia.
5
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Marys
Hospital, Oxford Road, Manchester M13 9WL, UK.
6
Paediatric Neurology Unit, "Dana" Children Hospital, Tel Aviv Sourasky Medical Centre, Sackler Faculty of Medicine,
Tel Aviv University, 64239 Tel Aviv, Israel.
7
Department of Respiratory Rehabilitation, Alyn Hospital, Jerusalem 91090, Israel.
8
Metabolic Laboratory Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center,
Jerusalem 91120, Israel.
9
Neonatal Intensive Care Unit, "Lis" Maternity Hospital, Tel Aviv Sourasky Medical Centre, 64239 Tel Aviv, Israel.
10
Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland;
Department of Pediatric Neurology, Children's Hospital, Helsinki University Hospital and University of Helsinki, 00290
Helsinki, Finland.
11
Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London SE1 7EH, UK.
12
Division of Genetics and Molecular Medicine, King's College London School of Medicine, London SE1 9RY, UK.
13
Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
14
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
15
Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Translational Metabolic Laboratory, Radboud
University Medical Centre, 6525 GA Nijmegen, the Netherlands.
16
Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland;
Department of Neurosciences, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland.
17
The Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center,
Jerusalem 91120, Israel.
18
Tyne NE2 4HH, UK. Electronic address: [email protected].
22
102. J Clin Anesth. 2016 Nov;34:344-7. doi: 10.1016/j.jclinane.2016.05.025. Epub 2016 Jun 3.
Anesthetic considerations for renal transplant surgery in patients with mitochondrial myopathy,
encephalopathy, lactic acidosis, and stroke-like episodes syndrome: a case report.
1
2
3
Humeidan ML , Dalia J , Traetow WD .
1
Department of Anesthesiology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Electronic
2
Saint Louis University School of Medicine, St Louis, MO, USA.
3
Department of Anesthesiology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
103. Trop Doct. 2016 Sep 23. pii: 0049475516670564. [Epub ahead of print]
MELAS syndrome presenting with seizure and deafness in a Malawian boy.
1
2
Macken M , Birbeck GL .
1
Paediatric Registrar, Paediatric Department, Queen Elizabeth Central Hospital, Blantyre, Malawi marita.macken
2
@nhs.net. Professor of Neurology, Department of Neurology, University of Rochester, Rochester, New York, USA
Professor of Neurology, Blantyre Malaria Project, Blantyre, Malawi.
104. Am J Kidney Dis. 2016 Sep 24. pii: S0272-6386(16)30413-9. doi: 10.1053/j.ajkd.2016.06.027. [Epub ahead of
print]
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.
1
2
3
4
5
2
6
7
8
Rudnicki M , Mayr JA , Zschocke J , Antretter H , Regele H , Feichtinger RG , Windpessl M , Mayer G , Pölzl G .
1
Department of Internal Medicine IV-Nephrology and Hypertension, Medical University Innsbruck, Innsbruck, Austria.
2
Electronic address: [email protected]. Department of Pediatrics, Paracelsus Medical University, Salzburg,
3
4
Austria. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Department of Cardiac Surgery,
5
Medical University Innsbruck, Innsbruck, Austria. Clinical Institute of Pathology, University of Vienna, Vienna, Austria.
6
7
Department of Nephrology, Klinikum Wels-Grieskirchen, Wels, Austria. Department of Internal Medicine IV-Nephrology
8
and Hypertension, Medical University Innsbruck, Innsbruck, Austria. Department of Internal Medicine III-Cardiology and
Angiology, Medical University Innsbruck, Innsbruck, Austria.
105. Pediatr Neurol. 2016 Aug 26. pii: S0887-8994(16)30416-7. doi: 10.1016/j.pediatrneurol.2016.08.016. [Epub
ahead of print]
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic
Acidosis, and Stroke-Like Episodes (MELAS).
1
2
3
4
4
4
5
Lee HN , Eom S , Kim SH , Kang HC , Lee JS , Kim HD , Lee YM .
1
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Epilepsy
Research Institute, Yonsei University College of Medicine, Seoul, Korea.
2
Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
3
Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
4
Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea; Division of Pediatric Neurology,
Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
5
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Epilepsy
Research Institute, Yonsei University College of Medicine, Seoul, Korea. Electronic address: [email protected].
Myosinopathies – Myosinopathies
106. Front Physiol. 2016 Sep 14;7:410. doi: 10.3389/fphys.2016.00410. eCollection 2016.
MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
1
1
Geist J , Kontrogianni-Konstantopoulos A .
1
Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine Baltimore, MD, USA.
Myotonies congénitales – Myotonia congenita
of print]
Thomsen disease with ptosis and abnormal MR findings.
1
2
1
1
1
3
4
1
Mori Y , Yamashita S , Kato M , Masuda T , Takamatsu K , Kumamoto T , Sasaki R , Ando Y .
23
1
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku,
Kumamoto 860-8556, Japan.
2
Kumamoto 860-8556, Japan. Electronic address: [email protected].
3
Department of Nursing, Kyushu University of Nursing and Social Welfare, 888 Tomio, Tamana 865-0062, Japan.
4
Department of Neurology, Graduate School of Medicine, Mie University, 2-174 Edobashi, Tsu 514-8507, Japan.
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
1
2
3
4
1
1
1
1
5
3
Kato H , Kokunai Y , Dalle C , Kubota T , Madokoro Y , Yuasa H , Uchida Y , Ikeda T , Mochizuki H , Nicole S ,
3
6
1
Fontaine B , Takahashi MP , Mitake S .
1
Department of Neurology, Tosei General Hospital, Japan.
2
Department of Neurology, Osaka University Graduate School of Medicine, Japan; INSERM U1127, CNRS UMR 7225,
Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and
National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.
3
INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de
la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital PitiéSalpêtrière, France.
4
Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Biochemistry and
Molecular Biology, The University of Chicago, United States; Department of Functional Diagnostic Science, Osaka
University Graduate School of Medicine, Japan.
5
Department of Neurology, Osaka University Graduate School of Medicine, Japan.
6
Department of Neurology, Osaka University Graduate School of Medicine, Japan; Department of Functional Diagnostic
Science, Osaka University Graduate School of Medicine, Japan. Electronic address: [email protected].
Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome
Clinical and genetic basis of congenital myasthenic syndromes.
1
1
1
1
1
1
Souza PV , Batistella GN , Lino VC , Pinto WB , Annes M , Oliveira AS .
1
Universidade Federal de São Paulo, Departamento de Neurologia e Neurocicurgia, Divisão de Doenças
Neuromusculares, São Paulo SP, Brasil.
Congenital myasthenic syndromes and myasthenia gravis are challenging diagnoses in neurological practice.
1
Nucci A .
1
Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brasil.
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases)
111. Clin Transl Sci. 2016 Oct 4. doi: 10.1111/cts.12420. [Epub ahead of print]
Translational Pharmacokinetic/Pharmacodynamic Analysis of MYO-029 Antibody for Muscular Dystrophy.
1
2
3
4
5
Singh P , Rong H , Gordi T , Bosley J , Bhattacharya I .
1
Pharmacokinetics, Dynamics, and Metabolism, Pfizer, Inc, Cambridge, Massachusetts, USA.
[email protected].
2
Shire Pharmaceutical, Lexington, Massachusetts, USA.
3
Nektar Therapeutics, Inc, San Francisco, California, USA.
4
Clermont Bosley LLC, Kennett Square, Pennsylvania, USA.
5
Clinical Pharmacology, Pfizer, Inc, Cambridge, Massachusetts, USA.
24
112. BMJ. 2016 Oct 3;355:i5346. doi: 10.1136/bmj.i5346.
Muscular dystrophy drug looks set for commercial success despite clinical doubts.
1
Dyer O .
1
Montreal.
113. Hum Genomics. 2016 Sep 27;10(1):32.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
1,2
3
4
5,6
5,6
5,6
5,6
5,6
Monies D , Alhindi HN , Almuhaizea MA , Abouelhoda M , Alazami AM , Goljan E , Alyounes B , Jaroudi D ,
5,6
5,6
5,6
5,6
5,6
5,6
5,6
5,6
AlIssa A , Alabdulrahman K , Subhani S , El-Kalioby M , Faquih T , Wakil SM , Altassan NA , Meyer BF ,
6,4
Bohlega S .
1
Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh,
11211, Kingdom of Saudi Arabia. [email protected].
2
Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
[email protected].
3
Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi
Arabia.
4
Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
5
Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh,
11211, Kingdom of Saudi Arabia.
6
Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
114. Semin Cell Dev Biol. 2016 Sep 23. pii: S1084-9521(16)30304-4. doi: 10.1016/j.semcdb.2016.09.013. [Epub
ahead of print]
Fibrosis development in early-onset muscular dystrophies: Mechanisms and translational implications.
1
2
Serrano AL , Muñoz-Cánoves P .
1
Cell Biology Group, Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), CIBER on
Neurodegenerative diseases (CIBERNED), Barcelona, Spain. Electronic address: [email protected].
2
Cell Biology Group, Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), CIBER on
Neurodegenerative diseases (CIBERNED), Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats
(ICREA), Barcelona, Spain; Program of Vascular Physiology, Fundación Centro Nacional de Investigaciones
Cardiovasculares (CNIC), Madrid, Spain. Electronic address: [email protected].
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
Evaluating changes in quality of life using QoL-NMD in patients with neuromuscular diseases.
1
2
3
4
4
3
Dany A , Rapin A , Lavard B , Novella JL , Jolly D , Boyer FC .
1
Université de Reims-Champagne-Ardenne, santé publique, Reims, France. Electronic address:
[email protected].
2
Ugecam Nord-Est, centre de réadaptation fonctionnelle, Charleville-Mézières, France.
3
CHU de Reims, médecine physique et réadaptation, Reims, France.
4
Université de Reims-Champagne-Ardenne, santé publique, Reims, France.
Relationship between disability and life satisfaction in adult patients with neuromuscular disease.
1
2
2
Grana E , Camplan S , Carda S .
1
CHUV, neuropsychologie et neuroréhabilitation, Lausanne, Suisse. Electronic address: [email protected].
2
CHUV, neuropsychologie et neuroréhabilitation, Lausanne, Suisse.
117. NeuroRehabilitation. 2016 Sep 27. [Epub ahead of print]
A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of
youth with neuromuscular disorders.
25
1
2
1
3,4
Travlos V , Bulsara C , Patman S , Downs J .
1
School of Physiotherapy, The University of Notre Dame Australia, Perth, WA, Australia.
2
School of Nursing and Midwifery, The University of Notre Dame Australia, Perth, WA, Australia.
3
Telethon Kids Institute, Perth, WA, Australia.
4
School of Physiotherapy and Exercise Science, Curtin University, Perth, WA, Australia.
118. Semin Neurol. 2016 Oct;36(5):409-418. Epub 2016 Sep 23.
Neuromuscular Diseases.
1
Morrison BM .
1
Department of Neurology, The Johns Hopkins University, Baltimore, Maryland.
119. J Gerontol B Psychol Sci Soc Sci. 2016 Oct 4. pii: gbw122. [Epub ahead of print]
Growing Older With a Physical Disability: A Special Application of the Successful Aging Paradigm.
1
2
Molton IR , Yorkston KM .
1
Department of Rehabilitation Medicine, University of Washington, Seattle. [email protected].
2
Department of Rehabilitation Medicine, University of Washington, Seattle.
120. Muscle Nerve. 2016 Oct 4. doi: 10.1002/mus.25429. [Epub ahead of print]
Utility of diaphragm ultrasound in myopathy.
1
2
3,4
O'Gorman CM , O'Brien TG , Boon AJ .
1
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
2
Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN, USA.
3
Department of Neurology, Mayo Clinic, Rochester, MN, USA. [email protected].
4
Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN, USA. [email protected].
121. Exp Ther Med. 2016 Oct;12(4):2435-2438. Epub 2016 Sep 6.
Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case
report.
1
2
2
2
2
2
3
2
Fan R , Ji R , Zou W , Wang G , Wang H , Penney DJ , Luo JJ , Fan Y .
1
John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Texas Children's Hospital, Baylor College
of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Xijing Hospital, The Fourth Military Medical University,
Xi'an, Shaanxi 710032, P.R. China.
2
John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Texas Children's Hospital, Baylor College
of Medicine, Houston, TX 77030, USA.
3
Department of Neurology, Temple University School of Medicine, Philadelphia, PA 19140, USA; Department of
Pharmacology, Temple University School of Medicine, Philadelphia, PA 19140, USA.
122. Front Med (Lausanne). 2016 Sep 13;3:40. doi: 10.3389/fmed.2016.00040. eCollection 2016.
Prognostic Value of Initial Assessment of Residual Hypoventilation Using Nocturnal Capnography in
Mechanically Ventilated Neuromuscular Patients: A 5-Year Follow-up Study.
1
2
2
3
4
1
4
1
5
Ogna A , Nardi J , Prigent H , Quera Salva MA , Chaffaut C , Lamothe L , Chevret S , Annane D , Orlikowski D ,
6
Lofaso F .
1
Service de Réanimation médicale et unité de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré , Garches ,
France.
2
Service de Physiologie-Explorations Fonctionnelles, AP-HP, Hôpital Raymond Poincaré , Garches , France.
3
Unité du Sommeil, AP-HP, Hôpital Raymond Poincaré , Garches , France.
4
Département de Biostatistique et Informatique Médicale, Hôpital Saint Louis , Paris , France.
5
Service de Réanimation médicale et unité de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré, Garches,
France; INSERM CIC 14.29, AP-HP, Hôpital Raymond Poincaré, Garches, France.
6
Service de Physiologie-Explorations Fonctionnelles, AP-HP, Hôpital Raymond Poincaré, Garches, France; Unité du
Sommeil, AP-HP, Hôpital Raymond Poincaré, Garches, France.
26
Seated postural in wheelchair in NMD.
1
Pellegrini N .
1
Centre hospitalier du vexin, SSR neurologie, Magny-en-Vexin, France. Electronic address:
[email protected].
124. Semin Cell Dev Biol. 2016 Sep 23. pii: S1084-9521(16)30303-2. doi: 10.1016/j.semcdb.2016.09.012. [Epub
ahead of print]
Beyond mice: emerging and transdisciplinary models for the study of early-onset myopathies.
1
2
2
3
4
Jagla K , Kalman B , Boudou T , Hénon S , Batonnet-Pichon S .
1
Ladybird team GReD, Univ. Clermont-Ferrand, INSERM U1103, CNRS UMR6293, 63000 Clermont Ferrand, France.
2
University Grenoble Alpes, LMGP, F-38000 Grenoble, France; CNRS, LMGP, F-38000 Grenoble, France.
3
Matière et Systèmes Complexes, Univ Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 7057, F-75013 Paris, France.
4
Unité de Biologie Fonctionnelle et Adaptative, Univ Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 8251, F-75013
Paris, France. Electronic address: [email protected].
125. Elife. 2016 Sep 26;5. pii: e17589. doi: 10.7554/eLife.17589. [Epub ahead of print]
Thrombospondin expression in myofibers stabilizes muscle membranes.
1
1
1
1
1
1
1
1
2
Vanhoutte D , Schips TG , Kwong JQ , Davis J , Tjondrokoesoemo A , Brody MJ , Sargent MA , Kanisicak O , Yi H ,
3
4
5
3
1
Gao QQ , Rabinowitz JE , Volk T , McNally EM , Molkentin JD .
1
2
Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, United States. Robert P. Apkarian
3
Integrated Electron Microscopy Core, Emory University, Atlanta, United States. Center for Genetic Medicine,
4
Northwestern University, Chicago, United States. Temple University School of Medicine, Philadelphia, United States.
5
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
126. JAMA Neurol. 2016 Sep 26. doi: 10.1001/jamaneurol.2016.3388. [Epub ahead of print]
Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.
1
1
1
1
Long C , Amoasii L , Bassel-Duby R , Olson EN .
1
Department of Molecular Biology, Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center and
Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas.
127. Sci Rep. 2016 Sep 26;6:34163. doi: 10.1038/srep34163.
G9a inhibits MEF2C activity to control sarcomere assembly.
1,2
1
1
1,2
1
1,2
Ow JR , Palanichamy Kala M , Rao VK , Choi MH , Bharathy N , Taneja R .
1
Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, 117597, Singapore.
2
NUS Graduate School for Integrative Sciences and Engineering, National University of Singapore, 117456, Singapore.
128. Adv Biol Regul. 2016 Sep 15. pii: S2212-4926(16)30031-8. doi: 10.1016/j.jbior.2016.09.001. [Epub ahead of
print]
WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.
1
2
3
4
Raess MA , Friant S , Cowling BS , Laporte J .
1
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1 Rue Laurent Fries, BP10142, 67404 Illkirch,
France; INSERM U964, 67404 Illkirch, France; CNRS, UMR7104, 67404 Illkirch, France; Fédération de Médecine
Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67404 Illkirch, France; Department of Molecular and
Cellular Genetics, UMR7156, Université de Strasbourg and CNRS, 21 Rue Descartes, 67084 Strasbourg, France.
2
Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg and CNRS, 21 Rue Descartes,
67084 Strasbourg, France. Electronic address: [email protected].
3
Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67404 Illkirch, France. Electronic address:
[email protected].
4
27
Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67404 Illkirch, France. Electronic address:
[email protected].
Divers – Miscellaneous
129. Cochrane Database Syst Rev. 2016 Oct 5;10:CD005520. [Epub ahead of print]
Oral appliances and functional orthopaedic appliances for obstructive sleep apnoea in children.
1
Carvalho FR , Lentini-Oliveira DA, Prado LB, Prado GF, Carvalho LB.
1
Neuro-Sono Sleep Center, Department of Neurology, Universidade Federal de São Paulo, Rua Americo Salvador
Novelli 508, São Paulo, São Paulo, Brazil, 08210-090.
Why placement in an institution is proposed to children with motor disability in 2016?
1
Hamonet-Torny J .
1
Institut d'éducation motrice, MPR, Couzeix, France. Electronic address: [email protected].
*
*
*
28
Le tri par spécialité ci-dessous reprend les mêmes références que celles présentées par maladies / References sorted
by medical specialty are the same as those sorted by diseases.
Cardiologie – Cardiology
BMJ Case Rep. 2016 Sep 23;2016. pii: bcr2016216860. doi: 10.1136/bcr-2016-216860.
Cardiac tamponade as a manifestation of severe dermatomyositis.
1
2
2
Kurth BJ , Wagler V , Keith M .
1
Department of Internal Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
2
Department of Rheumatology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
J Thorac Cardiovasc Surg. 2016 Aug 28. pii: S0022-5223(16)31035-2. doi: 10.1016/j.jtcvs.2016.08.016. [Epub ahead of
print]
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results.
1
2
2
2
2
2
3
4
4
2
Perri G , Filippelli S , Adorisio R , Iacobelli R , Iodice F , Testa G , Paglietti MG , D'Amario D , Massetti M , Amodeo A .
1
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital IRCCS, Rome, Italy;
Pneumology Unit - University Hospital Pediatric Department, Bambino Gesù Children Hospital, IRCCS, Rome, Italy;
Cardiovascular Science, Cardio-Thoracic Surgery Unit, Catholic University, A. Gemelli Hospital, Rome, Italy. Electronic
2
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
3
Pneumology Unit - University Hospital Pediatric Department, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
4
Cardiovascular Science, Cardio-Thoracic Surgery Unit, Catholic University, A. Gemelli Hospital, Rome, Italy.
J Cardiovasc Magn Reson. 2016 Sep 22;18(1):61.
dystrophy carriers.
1,2
3
4
4
3
5
6
3
1
2
3
4
5
Austria.
6
Medicine (Baltimore). 2016 Sep;95(39):e4911. doi: 10.1097/MD.0000000000004911.
1
1
29
Douleur – Pain
Arq Neuropsiquiatr. 2016 Sep;74(9):767-774. doi: 10.1590/0004-282X20160107.
Pain characterization in Duchenne muscular dystrophy.
1
1,2
2
2
1
2
2
3
3
Silva TD , Massetti T , Monteiro CB , Trevizan IL , Arab C , Caromano FA , Voos MC , Oliveira AS , Favero FM .
1
Universidade Federal de São Paulo, Faculdade de Medicina, Departamento de Cardiologia, São Paulo SP, Brasil.
2
Universidade de São Paulo, Faculdade de Medicina, Programa de Pós-Graduação Ciências da Reabilitação, São
Paulo SP, Brasil.
3
Universidade Federal de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brasil.
Électromyographie – Electromyography
Ann Phys Rehabil Med. 2016 Sep;59S:e82-e83. doi: 10.1016/j.rehab.2016.07.190.
1
2
3
4
5
6
7
8
9
10
11
L , Delpierre Y .
1
2
3
4
5
6
7
Nantes, France.
8
9
10
11
Imagerie médicale – Medical imaging
J Cardiovasc Magn Reson. 2016 Sep 22;18(1):61.
dystrophy carriers.
1,2
3
4
4
3
5
6
3
1
2
3
4
5
Austria.
6
Rev Neurol (Paris). 2016 Sep 20. pii: S0035-3787(16)30204-1. doi: 10.1016/j.neurol.2016.08.002. [Epub ahead of print]
Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach.
1
2
3
3
4
Fatehi F , Salort-Campana E , Le Troter A , Bendahan D , Attarian S .
1
Saint-Pierre, 13385 Marseille cedex 05, France; Iranian Center of Neurological research and Shariati hospital,
Neurology Department, Tehran University of Medical Sciences, Tehran, Iran.
2
Functional Genomics, 13385 Marseille, France.
3
Aix-Marseille université, centre de résonance magnétique biologique et médicale, UMR CNRS 7339, 13385 Marseille,
France.
30
4
Functional Genomics, 13385 Marseille, France. Electronic address: [email protected].
Muscle Nerve. 2016 Oct 4. doi: 10.1002/mus.25429. [Epub ahead of print]
Utility of diaphragm ultrasound in myopathy.
1
2
3,4
O'Gorman CM , O'Brien TG , Boon AJ .
1
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
2
Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN, USA.
3
Department of Neurology, Mayo Clinic, Rochester, MN, USA. [email protected].
4
Department of Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, MN, USA. [email protected].
Neuromuscul Disord. 2016 Sep 5. pii: S0960-8966(16)30025-6. doi: 10.1016/j.nmd.2016.09.002. [Epub ahead of print]
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.
1
2
1
3
2
4
5
6
Polavarapu K , Manjunath M , Preethish-Kumar V , Sekar D , Vengalil S , Thomas P , Sathyaprabha TN , Bharath RD ,
7
Nalini A .
1
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India; Department
of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
2
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
3
Department of Molecular Genetics, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
4
Department of Psychiatric Social Work, National Institute of Mental Health and Neurosciences, Bangalore 560029,
India.
5
Department of Neurophysiology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India.
6
Department of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences,
Bangalore 560029, India.
7
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India. Electronic
Neuromuscul Disord. 2016 Sep 3. pii: S0960-8966(16)30126-2. doi: 10.1016/j.nmd.2016.08.016. [Epub ahead of print]
Thomsen disease with ptosis and abnormal MR findings.
1
2
1
1
1
3
4
1
Mori Y , Yamashita S , Kato M , Masuda T , Takamatsu K , Kumamoto T , Sasaki R , Ando Y .
1
Kumamoto 860-8556, Japan.
2
Kumamoto 860-8556, Japan. Electronic address: [email protected].
3
Department of Nursing, Kyushu University of Nursing and Social Welfare, 888 Tomio, Tamana 865-0062, Japan.
4
Department of Neurology, Graduate School of Medicine, Mie University, 2-174 Edobashi, Tsu 514-8507, Japan.
Pneumologie – Pneumology
Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22.
Respiratory pattern in a FSHD pediatric population.
1
2
3
2
2
4
5
Trucco F , Pedemonte M , Fiorillo C , Tacchetti P , Brisca G , Bruno C , Minetti C .
1
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy. Electronic address:
[email protected].
2
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
3
Molecular Medicine, IRCCS Stella Maris, Via dei Giacinti 2, 56128, Pisa, Italy.
4
Center of Myology and Neurodegenerative Disorders, Department of Neuroscience, Istituto Giannina Gaslini, Genova,
Italy; Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy.
5
Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics,
University of Genova, Italy.
Respir Med. 2016 Oct;119:35-40. doi: 10.1016/j.rmed.2016.08.018. Epub 2016 Aug 22.
The relationship of body habitus and respiratory function in Duchenne muscular dystrophy.
1
1
1
1
2
3
Chew K , Carey K , Ho G , Mallitt KA , Widger J , Farrar M .
31
1
Wales, Sydney, Australia.
2
Wales, Sydney, Australia; Department of Respiratory Medicine, Sydney Children's Hospital, Randwick, NSW 2031,
Australia. Electronic address: [email protected].
3
Wales, Sydney, Australia; Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
Medicine (Baltimore). 2016 Sep;95(39):e4911. doi: 10.1097/MD.0000000000004911.
1
1
Front Med (Lausanne). 2016 Sep 13;3:40. doi: 10.3389/fmed.2016.00040. eCollection 2016.
Prognostic Value of Initial Assessment of Residual Hypoventilation Using Nocturnal Capnography in
Mechanically Ventilated Neuromuscular Patients: A 5-Year Follow-up Study.
1
2
2
3
4
1
4
1
5
Ogna A , Nardi J , Prigent H , Quera Salva MA , Chaffaut C , Lamothe L , Chevret S , Annane D , Orlikowski D ,
6
Lofaso F .
1
Service de Réanimation médicale et unité de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré , Garches ,
France.
2
Service de Physiologie-Explorations Fonctionnelles, AP-HP, Hôpital Raymond Poincaré , Garches , France.
3
Unité du Sommeil, AP-HP, Hôpital Raymond Poincaré , Garches , France.
4
Département de Biostatistique et Informatique Médicale, Hôpital Saint Louis , Paris , France.
5
Service de Réanimation médicale et unité de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré, Garches,
France; INSERM CIC 14.29, AP-HP, Hôpital Raymond Poincaré, Garches, France.
6
Service de Physiologie-Explorations Fonctionnelles, AP-HP, Hôpital Raymond Poincaré, Garches, France; Unité du
Sommeil, AP-HP, Hôpital Raymond Poincaré, Garches, France.
Médecine physique et de réadaptation – Physical and rehabilitation medicine
J Peripher Nerv Syst. 2016 Oct 4. doi: 10.1111/jns.12191. [Epub ahead of print]
Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.
1
1
1
1
2,3
4
1
5
Roberts-Clarke D , Fornusek C , Saigal N , Halaki M , Burns J , Nicholson G , Fiatarone Singh M , Hackett D .
1
Lidcombe, New South Wales, Australia.
2
Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Lidcombe, New
South Wales, Australia.
3
Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network (Randwick and
Westmead), Sydney, New South Wales, Australia.
4
Concord Clinical School, ANZAC Institute, Concord Repatriation Hospital, Hospital Road, Concord, NSW, Australia.
5
Lidcombe, New South Wales, Australia. [email protected].
32
Cochrane Database Syst Rev. 2016 Oct 5;10:CD005520. [Epub ahead of print]
Oral appliances and functional orthopaedic appliances for obstructive sleep apnoea in children.
1
Carvalho FR , Lentini-Oliveira DA, Prado LB, Prado GF, Carvalho LB.
1
Neuro-Sono Sleep Center, Department of Neurology, Universidade Federal de São Paulo, Rua Americo Salvador
Novelli 508, São Paulo, São Paulo, Brazil, 08210-090.
Rev Neurol (Paris). 2016 Sep 20. pii: S0035-3787(16)30207-7. doi: 10.1016/j.neurol.2016.08.005. [Epub ahead of print]
Exercise training in metabolic myopathies.
1
Vissing J .
1
Copenhagen Neuromuscular Center, section 6921, Department of Neurology, University of Copenhagen,
Rigshospitaletn, Juliane Maries Vej 28, DK-2100 Copenhagen, Danemark. Electronic address: [email protected].
Open Access Maced J Med Sci. 2016 Sep 15;4(3):443-448. Epub 2016 Jul 12.
The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two
Cases.
1
1
1
1
1
1
Dimitrova EN , Božinovikj I , Ristovska S , Pejcikj AH , Kolevska A , Hasani M .
1
Institute of Physical Medicine and Rehabilitation, Medical Faculty, Ss Cyril and Methodius University of Skopje, Skopje,
Republic of Macedonia.
J Gerontol B Psychol Sci Soc Sci. 2016 Oct 4. pii: gbw122. [Epub ahead of print]
Growing Older With a Physical Disability: A Special Application of the Successful Aging Paradigm.
1
2
Molton IR , Yorkston KM .
1
Department of Rehabilitation Medicine, University of Washington, Seattle. [email protected].
2
Department of Rehabilitation Medicine, University of Washington, Seattle.
Disabil Rehabil. 2016 Aug 16:1-6. [Epub ahead of print]
A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects.
1,2
2,3
1
2
2,3
4
4
5
4
Ramdharry GM , Pollard AJ , Grant R , Dewar EL , Laurá M , Moore SA , Hallsworth K , Ploetz T , Trenell MI ,
2,3
Reilly MM .
1
a Faculty of Health, Social Care and Education , Kingston University and St George's University of London , London ,
UK ;
2
b MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery , London , UK ;
3
c Department of Molecular Neuroscience , UCL Institute of Neurology , London, London , UK ;
4
d Movelab , Institute of Cellular Medicine, Newcastle University , Newcastle upon Tyne , UK ;
5
e School of Computing Science, Newcastle University , Newcastle upon Tyne , UK.
Ann Phys Rehabil Med. 2016 Sep;59S:e92. doi: 10.1016/j.rehab.2016.07.207.
Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA.
1
2
3
4
4
4
5
6
5
3
Sauvagnac-Quera R , Vabre C , Azzi V , Tirolien S , Leiba N , Poisson F , Miladi L , Carlier R , Glorion C , Leclair D ,
3
3
Estournet B , Quijano-Roy S .
1
AP-HP, hôpital Raymond-Poincaré, pédiatrie, centre de référence des maladies neuromusculaires GNMH, Garches,
France; AP-HP, hôpital Raymond-Poincaré, MPR pédiatrique, Garches, France. Electronic address:
[email protected].
2
NEUT, ortho-prothésiste, Paris, France.
3
AP-HP, hôpital Raymond-Poincaré, imagerie, Garches, France.
4
AP-HP, hôpital Raymond-Poincaré, MPR pédiatrique, Garches, France.
5
AP-HP, hôpital Raymond-Poincaré, pédiatrie, Garches, France.
6
AP-HP, hôpital Necker-Enfants Malades, chirurgie infantile, Paris, France.
Innovative method for motor functions evaluation in SMA type 2 and 3 patients.
1
2
3
3
Vuillerot C , Vincent-Genod D , Thomann G , Coton J .
1
Hospices civils de Lyon, L'Escale, Bron, France. Electronic address: [email protected].
2
Hospices civils de Lyon, L'Escale, Bron, France.
3
Université Grenoble-Alpes, laboratoire G-SCOP, Grenoble, France.
33
1
2
3
4
5
6
7
8
9
10
11
L , Delpierre Y .
1
2
3
4
5
6
7
Nantes, France.
8
9
10
11
Seated postural in wheelchair in NMD.
1
Pellegrini N .
1
Centre hospitalier du vexin, SSR neurologie, Magny-en-Vexin, France. Electronic address:
[email protected].
Functionnal improvement with a rehabilitation programme in dermatmyositis an polymyositis: Results of a
randomized controlled trial.
1
2
2
3
2
4
Tiffreau V , Kopciuch F , Thevenon A , Rannou F , Hachulla E , Thoumie P .
1
CHRU de Lille, MPR, Lille, France. Electronic address: [email protected].
2
CHRU de Lille, MPR, Lille, France.
3
AP-HP, hôpital Cochin, MPR, Paris, France.
4
AP-HP, hôpital Rotschild, MPR, Paris, France.
Motor, cognitive and psychosocial impacts of an adapted dance program among children with Charcot-MarieTooth disease: An exploratory study.
1
2
3
2
4
2
3
Claire C , Martel M , Fortin S , Raymond MJ , Veilleux LN , D'Arcy S , Lemay M .
1
CHU Saine-Justine, centre de recherche du centre de réadaptation Marie Enfant, Montréal, Canada. Electronic
2
CHU Saine-Justine, centre de recherche du centre de réadaptation Marie Enfant, Montréal, Canada.
3
Université du Québec, Montréal, Canada.
4
Hôpital Shriners pour enfants, Montréal, Canada.
34

Veille Neuromusculaire / Neuromuscular Alert

Transcription

Documents pareils

Symposium L`actualité de la recherche en droit franco

Erasmus Student Placement

Conference Poster - Winthrop-King Institute for Contemporary

Table ronde - Centre de recherche en immigration, ethnicité et

liste des financements attribués à l`automne 2012

Canadian Society for History and Philosophy of Mathematics

Le communiqué de presse - La recherche à l`Université Lille 2

collaborateurs - McGill Journal of Education / Revue des sciences

HARDERN Cathy mini CV1112 - Groupe Sup de Co La Rochelle

Prévenir le risque de morts soudaines dans l`épilepsie (SUDEP)