Veille bibliographique sur les maladies

Transcription

Veille bibliographique
sur les maladies neuromusculaires
Bibliographic alert on neuromuscular disorders
n° 2014-09-1 du 29 août au 11 septembre 2014 (August 29 – September 11, 2014)
Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille bibliographique sur les maladies
neuromusculaires" 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. Elle est susceptible d’évoluer au regard du périmètre de la
e
future filière neuromusculaire en cours d'élaboration dans le cadre du 2 Plan National Maladies Rares.
Every two weeks, you will find in the Bibliographic Monitoring on Neuromuscular Disorders the latest references
published in Pubmed. The list of covered diseases comes from the October 2012 publication "Avancées médicoscientifiques neuromusculaires", Fiche technique Savoir & Comprendre published by AFMTÉLÉTHON. This list will
e
expand based on the evolution of the "2 Plan national maladies rares".
Sommaire par maladies / diseases
Amyotrophies bulbo-spinales - Bulbospinal amyotrophies ....................................................................... 1
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA) ............... 2
Amyotrophies spinales distales - Distal spinal muscular atrophies ......................................................... 3
Canalopathies musculaires- Muscular Channelopathies ........................................................................... 3
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease .............................................................. 3
Collagénopathies - Collagenopathies ........................................................................................................... 5
Dystrophies musculaires congénitales - Congenital muscular dystrophies ............................................ 5
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker Dystrophinopathies ......................................................................................................................................... 6
Dystrophie musculaire facio-scapulo-humérale - Facioscapulohumeral muscular dystrophy (FSHD)
......................................................................................................................................................................... 10
Dystrophies myotoniques - Myotonic dystrophies.................................................................................... 11
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva................................... 11
Laminopathies - Laminopathies .................................................................................................................. 11
Maladie de Pompe – Pompe’s disease ........................................................................................................ 12
Myasthénie autoimmune– Myasthenia Gravis ........................................................................................... 12
Myopathies congénitales – Congenital Myopathies .................................................................................. 14
Myopathies distales – Distal myopathies ................................................................................................... 14
Myopathies liées à GNE – GNE myopathies ............................................................................................... 15
Myopathies inflammatoires - Inflammatory myopathies ........................................................................... 15
Myopathies métaboliques - Metabolic myopathies ................................................................................... 18
Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 18
Myopathies myofibrillaires – Myofibrillar myopathies .............................................................................. 18
Myotonies congénitales –Myotonia congenita ........................................................................................... 19
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome ...................................... 19
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) ........... 19
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 20
Divers - Miscellaneous.................................................................................................................................. 21
Sommaire par spécialités / specialties
Cardiologie - Cardiology............................................................................................................................... 23
Amyotrophies bulbo-spinales - Bulbospinal amyotrophies
1. Saudi J Anaesth. 2014 Jul;8(3):418-20. doi: 10.4103/1658-354X.136640.
The use of sugammadex in a patient with Kennedy's disease under general anesthesia.
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1
Takeuchi R , Hoshijima H , Doi K , Nagasaka H .
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Department of Anesthesiology, Saitama Medical University Hospital, Saitama, Japan.
2
Department of Dento-oral Anesthesiology, Tohoku University Graduate School of Dentistry, Sendai, Japan.
3
Department of Anesthesiology, National Hospital Organization Hamada Medical Center, Shimane, Japan.
2. Methods Mol Biol. 2014;1204:197-204. doi: 10.1007/978-1-4939-1346-6_17.
Analysis of the conformation of the androgen receptor in spinal bulbar muscular atrophy by atomic force
microscopy.
1
Jochum T , Cato AC.
AFM-Téléthon>Myodoc - 12/09/2014
1
1
Laboratory for Applications of Synchrotron Radiation, Institute of Photon Science and Synchrotron Radiation, Hermannvon-Helmholtz-Platz 1, Eggenstein-Leopoldshafen, 76344, Germany, [email protected].
3. Hum Mol Genet. 2014 Aug 28. pii: ddu445. [Epub ahead of print]
Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen
receptors.
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2
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1
1
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1
Iida M , Katsuno M , Nakatsuji H , Adachi H , Kondo N , Miyazaki Y , Tohnai G , Ikenaka K , Watanabe H , Yamamoto
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4
2
M , Kishida K , Sobue G .
1
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
2
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan
[email protected] [email protected].
3
Department of Speech Pathology and Audiology, Aichi-Gakuin University School of Health Science, Nisshin, Aichi 4700195, Japan.
4
Department of Metabolic Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan
Kishida Clinic, Toyonaka, Osaka 560-0021, Japan.
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA)
4. Brain Dev. 2014 Sep 5. pii: S0387-7604(14)00194-6. doi: 10.1016/j.braindev.2014.08.007. [Epub ahead of print]
Clinical characteristics of three subtypes of spinal muscular atrophy in children.
1
2
Yuan P , Jiang L .
1
M.S. Department of Neurology, Children's Hospital of Chongqing Medical University, Ministry of Education Key
Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International
Science and Technology Cooperation Center for Child Development and Disorders, China. Electronic address:
[email protected].
2
M.S. Department of Neurology, Children's Hospital of Chongqing Medical University, Ministry of Education Key
Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International
Science and Technology Cooperation Center for Child Development and Disorders, China.
5. PLoS One. 2014 Sep 5;9(9):e106818. doi: 10.1371/journal.pone.0106818. eCollection 2014.
Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells.
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Maeda M , Harris AW , Kingham BF , Lumpkin CJ , Opdenaker LM , McCahan SM , Wang W , Butchbach ME .
1
Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children,
Wilmington, Delaware, United States of America; Department of Biological Sciences, University of Delaware, Newark,
Delaware, United States of America.
2
Wilmington, Delaware, United States of America.
3
Sequencing and Genotyping Center, University of Delaware, Newark, Delaware, United States of America.
4
Center for Translational Cancer Research, University of Delaware, Newark, Delaware, United States of America.
5
Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children,
Wilmington, Delaware, United States of America; Bioinformatics Core Facility, Nemours Biomedical Research, Nemours
Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America; Department of Pediatrics,
Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
6
Wilmington, Delaware, United States of America; Center for Pediatric Research, Nemours Biomedical Research,
Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America; Department of
Biological Sciences, University of Delaware, Newark, Delaware, United States of America.
7
Wilmington, Delaware, United States of America; Center for Pediatric Research, Nemours Biomedical Research,
Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States of America; Department of
Biological Sciences, University of Delaware, Newark, Delaware, United States of America; Department of Pediatrics,
Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
2
6. Hum Mol Genet. 2014 Sep 1. pii: ddu447. [Epub ahead of print]
Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate
model of spinal muscular atrophy.
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1
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2
Hao LT , Phan DQ , Jontes JD , Beattie CE .
1
The Ohio State University College of Medicine, Department of Neuroscience. Columbus OH 43210.
2
The Ohio State University College of Medicine, Department of Neuroscience. Columbus OH 43210
[email protected].
Amyotrophies spinales distales - Distal spinal muscular atrophies
7. J Neurosurg Spine. 2014 Sep 5:1-10. [Epub ahead of print]
Cervical duraplasty with tenting sutures via laminoplasty for cervical flexion myelopathy in patients with
Hirayama disease: successful decompression of a "tight dural canal in flexion" without spinal fusion.
1
Ito H , Takai K, Taniguchi M.
1
Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Canalopathies musculaires- Muscular Channelopathies
8. Seizure. 2014 Aug 20. pii: S1059-1311(14)00233-7. doi: 10.1016/j.seizure.2014.08.005. [Epub ahead of print]
Normokalemic periodic paralysis with involuntary movements and generalized epilepsy associated with two
novel mutations in SCN4A gene.
1
2
3
Cao L , Li X , Hong D .
1
Department of Internal Medicine, The First Hospital of Jiujiang City, Jiujiang, China; Department of Neurology, The First
Affiliated Hospital of Nanchang University, Nanchang, China.
2
Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
3
Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China. Electronic address:
[email protected].
9. Curr Opin Neurol. 2014 Oct;27(5):583-90. doi: 10.1097/WCO.0000000000000127.
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
1
Suetterlin K , Männikkö R, Hanna MG.
1
aDepartment of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases, Institute of Neurology, University
College London bNational Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease
10. Neural Regen Res. 2014 Feb 15;9(4):413-9. doi: 10.4103/1673-5374.128248.
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.
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Zhang R , Zhang F , Li X , Huang S , Zi X , Liu T , Liu S , Li X , Xia K , Pan Q , Tang B .
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Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
2
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China.
3
National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan Province, China.
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Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, China ; National
Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan Province, China.
11. J Neurol. 2014 Sep 9. [Epub ahead of print]
Charcot Marie Tooth disease (CMT): historical perspectives and evolution.
1
Kazamel M , Boes CJ.
1
Department of Neurology, Mayo Clinic School of Graduate Medical Education, 200 First St SW, Rochester, MN, 55905,
USA, [email protected].
3
12. Nat Med. 2014 Sep 4;20(9):984-5. doi: 10.1038/nm.3684.
Neuregulin-1 alleviates Charcot-Marie-Tooth disease in rats.
Martini R.
Department of Neurology, Section of Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
13. ACS Chem Biol. 2014 Sep 4. [Epub ahead of print]
Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-Tooth disease.
Inglese J, Dranchak P, Moran JJ, Jang SW, Srinivasan R, Santiago Y, Zhang L, Guha R, Martinez N, Macarthur R, Cost
GJ, Svaren JP.
14. Hum Mol Genet. 2014 Sep 3. pii: ddu451. [Epub ahead of print]
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
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Vaccari I , Carbone A , Previtali SC , Mironova YA , Alberizzi V , Noseda R , Rivellini C , Bianchi F , Del Carro U ,
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D'Antonio M , Lenk G , Wrabetz L , Giger RJ , Meisler MH , Bolino A .
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Division of Neuroscience, INSPE-Institute of Experimental Neurology.
2
Division of Neuroscience, INSPE-Institute of Experimental Neurology Department of Neurology, San Raffaele Scientific
Institute, Milan-Italy.
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Department of Cell and Developmental Biology, University of Michigan, Ann Arbor MI 48109.
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Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan-Italy.
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Department of Human Genetics, University of Michigan, Ann Arbor MI 48109.
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Hunter James Kelly Research Institute, State University of New York, Buffalo, NY 14203.
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Division of Neuroscience, INSPE-Institute of Experimental Neurology [email protected].
15. Hum Mutat. 2014 Aug 28. doi: 10.1002/humu.22681. [Epub ahead of print]
Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations.
1
Griffin LB , Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Züchner S, Hou YM, Antonellis A.
1
Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI; Medical Scientist
Training Program, University of Michigan Medical School, Ann Arbor, MI.
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
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Pla-Martín D , Calpena E , Lupo V , Márquez C , Rivas E , Sivera R , Sevilla T , Palau F , Espinós C .
1
Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF),
Valencia 46012, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia
46012, Spain.
2
Department of Neurologyand .
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Department of Pathology, Hospital Universitario Virgen del Rocío, Seville 41013, Spain.
4
Department of Neurology, Hospital Universitari i Politècnic La Fe and Instituto de Investigación Sanitario (IIS)-La Fe,
Valencia 46026, Spain, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas
(CIBERNED), Valencia 46026, Spain.
5
Department of Neurology, Hospital Universitari i Politècnic La Fe and Instituto de Investigación Sanitario (IIS)-La Fe,
Valencia 46026, Spain, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas
(CIBERNED), Valencia 46026, Spain, Department of Medicine and.
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46012, Spain, University of Castilla-La Mancha School of Medicine, Ciudad Real 13071, Spain.
7
46012, Spain, Department of Genetics, Universitat de València, Valencia 46010, Spain and [email protected].
17. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv80-iv86. doi: 10.1093/ndt/gfu071.
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and
Charcot-Marie-Tooth neuropathy.
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Caridi G , Lugani F , Dagnino M , Gigante M , Iolascon A , Falco M , Graziano C , Benetti E , Dugo M , Del Prete D ,
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Granata A , Borracelli D , Moggia E , Quaglia M , Rinaldi R , Gesualdo L , Ghiggeri GM .
1
Laboratory on Pathophysiology of Uremia and Division of Nephrology, Dialysis, Transplantation, Istituto Giannina
Gaslini, Genova, Italy.
2
Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
3
Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples - CEINGE - Advanced
Biotechnologies, Napoli, Italy.
4
Medical Genetics Unit, Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
5
Nephrology, Dialysis, Transplantation Unit, Azienda Ospedaliera-University of Padova, Padova, Italy.
6
Nefrologia, Dialisi, Trapianti Renali, O.C. Ca' Foncello, ULSS 9, Treviso, Italy.
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Department of Medicine, Nephrology Unit, University of Padoa, Padova, Italy.
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Nephrology and Dialysis Unit, 'San Giovanni di Dio' Hospital, Agrigento, Italy.
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Nephrology and Dialysis Unit, Ospedale Alta Val D'Elsa, Poggibonsi, Siena, Italy.
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Nephrology and Dialysis Unit, Ospedale S. Croce e Carle, Cuneo, Italy.
11
Nephrology and Transplantation Unit, Department of Translational Medicine, Azienda Ospedaliero-Universitaria
'Maggiore della Carità', 'Amedeo Avogadro' University, Novara, Italy.
12
Neurology Unit, Policlinico S. Orsola-Malpighi, Bologna, Italy.
13
Renal, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari,
Bari, Italy.
18. Ann Neurol. 2014 Aug 28. doi: 10.1002/ana.24265. [Epub ahead of print]
Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.
1
Beutler AS , Kulkarni AA, Kanwar R, Klein CJ, Therneau TM, Qin R, Banck MS, Boora GK, Ruddy KJ, Wu Y, Smalley
RL, Cunningham JM, Le-Lindqwister NA, Beyerlein P, Schroth GP, Windebank AJ, Züchner S, Loprinzi CL.
1
Department of Oncology, Mayo Clinic, Rochester, MN, USA.
Collagénopathies - Collagenopathies
19. Hum Mutat. 2014 Sep 9. doi: 10.1002/humu.22691. [Epub ahead of print]
Mosaicism for Dominant Collagen VI Mutations as a Cause for Intra-Familial Phenotypic Variability.
1
Donkervoort S , Hu Y, Stojkovic T, Voermans N, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A,
Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield R, Winder TL, Crawford T, Weiss RB,
Muntoni F, Allamand V, Bönnemann CG.
1
National Institutes of Health, National Institute of Neurological Disorders and Stroke, Neurogenetics Branch,
Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
Dystrophies musculaires congénitales - Congenital muscular dystrophies
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe
dystroglycanopathy models: generation of a new model for fukuyama congenital muscular dystrophy.
1
1
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3
1
Kanagawa M , Lu Z , Ito C , Matsuda C , Miyake K , Toda T .
1
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
2
Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology, Tsukuba, Japan.
3
Department of Histology and Cell Biology, School of Medicine, Kagawa University, Ikenobe, Miki, Kagawa, Japan.
21. Front Aging Neurosci. 2014 Aug 19;6:215. doi: 10.3389/fnagi.2014.00215. eCollection 2014.
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation
in FHL1 Gene.
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Sabatelli P , Castagnaro S , Tagliavini F , Chrisam M , Sardone F , Demay L , Richard P , Santi S , Maraldi NM ,
6
7
2
Merlini L , Sandri M , Bonaldo P .
1
Institute of Molecular Genetics, CNR-National Research Council of Italy , Bologna , Italy ; SC Laboratory of
Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy.
2
Department of Molecular Medicine, University of Padova , Padova , Italy.
5
3
UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière , Paris ,
France.
4
UF Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaires de la Pitié Salpêtrière , Paris ,
France.
5
Institute of Molecular Genetics, CNR-National Research Council of Italy , Bologna , Italy.
6
SC Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute , Bologna , Italy.
7
Dulbecco Telethon Institute, Venetian Institute of Molecular Medicine , Padova , Italy ; Department of Biomedical
Science, University of Padova , Padova , Italy.
22. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.169. [Epub ahead of print]
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
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1
O'Grady GL , Best HA , Oates EC , Kaur S , Charlton A , Brammah S , Punetha J , Kesari A , North KN , Ilkovski B ,
5
1
Hoffman EP , Clarke NF .
1
1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales,
Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New
South Wales, Australia.
2
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales,
Australia.
3
Histopathology Department, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
4
Electron Microscope Unit, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
5
Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
6
1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales,
Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New
South Wales, Australia [3] Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [4] Faculty of Medicine,
University of Melbourne, Melbourne, Victoria, Australia.
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
- Dystrophinopathies
Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with
duchenne muscular dystrophy: a multicenter cross sectional study.
1
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4
Forbes SC , Willcocks RJ , Triplett WT , Rooney WD , Lott DJ , Wang DJ , Pollaro J , Senesac CR , Daniels MJ ,
5
2
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2
3
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8
1
Finkel RS , Russman BS , Byrne BJ , Finanger EL , Tennekoon GI , Walter GA , Sweeney HL , Vandenborne K .
1
Department of Physical Therapy, University of Florida, Gainesville, FL, United States of America.
2
Oregon Health & Science University, Portland, OR, United States of America.
3
The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
4
Department of Statistics & Data Sciences and Department of Integrative Biology, the University of Texas at Austin,
Austin, TX, United States of America.
5
The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America; Nemours Children's Hospital,
Orlando, Florida, United States of America.
6
Department of Pediatrics and Molecular Genetics & Microbiology, Powell Gene Therapy Center, University of Florida,
Gainesville, FL, United States of America.
7
Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL, United States of America.
8
Department of Physiology, University of Pennsylvania, Philadelphia, PA, United States of America.
24. Anim Reprod Sci. 2014 Aug 27. pii: S0378-4320(14)00257-7. doi: 10.1016/j.anireprosci.2014.08.005. [Epub
ahead of print]
Histological comparison of the smooth uterine muscle of healthy golden retriever bitches, carriers of the
progressive muscular dystrophy (GRMD) gene, and GRMD-affected bitches.
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Brolio MP , Cima DS , Miglino MA , Ambrósio CE .
1
Department of Surgery, Faculty of Veterinary Medicine and Animal Science of the University of São Paulo - FMVZ-USP,
Orlando Marques de Paiva, 87 street, Sao Paulo, SP 05508-270, Brazil. Electronic address: [email protected].
2
Paulista University - UNIP, Tenente Júlio Prado Neves, 965 street, São Paulo, SP 02370-000, Brazil. Electronic
address: [email protected].
3
Department of Surgery, Faculty of Veterinary Medicine and Animal Science of the University of São Paulo - FMVZ-USP,
Orlando Marques de Paiva, 87 street, Sao Paulo, SP 05508-270, Brazil. Electronic address: [email protected].
6
4
Department of Veterinary Medicine, Faculty of Animal Science and Food Engineering of the University of São Paulo FZEA-USP, Duque de Caxias Norte, 225, Pirassunuga, SP 13635-900, Brazil. Electronic address: [email protected].
25. Nutr Clin Pract. 2014 Sep 8. pii: 0884533614546696. [Epub ahead of print]
Accuracy of Parent-Reported Energy Intake and Physical Activity Levels in Boys With Duchenne Muscular
Dystrophy.
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3
2
Elliott SA , Davidson ZE , Davies PS , Truby H .
1
Children's Nutrition Research Centre, Queensland Children's Medical Research Institute, The University of Queensland,
Herston, Queensland, Australia Department of Nutrition and Dietetics, Southern Clinical School, Monash University,
Clayton, Victoria, Australia [email protected].
2
Department of Nutrition and Dietetics, Southern Clinical School, Monash University, Clayton, Victoria, Australia.
3
Children's Nutrition Research Centre, Queensland Children's Medical Research Institute, The University of Queensland,
Herston, Queensland, Australia.
26. Mol Ther. 2014 Aug 4. doi: 10.1038/mt.2014.151. [Epub ahead of print]
Forelimb Treatment in a Large Cohort of Dystrophic Dogs Supports Delivery of a Recombinant AAV for Exon
Skipping in Duchenne Patients.
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Le Guiner C , Montus M , Servais L , Cherel Y , Francois V , Thibaud JL , Wary C , Matot B , Larcher T , Guigand L ,
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9
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Dutilleul M , Domenger C , Allais M , Beuvin M , Moraux A , Le Duff J , Devaux M , Jaulin N , Guilbaud M , Latournerie
2
2
2
2
2
10
11
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13
V , Veron P , Boutin S , Leborgne C , Desgue D , Deschamps JY , Moullec S , Fromes Y , Vulin A , Smith RH ,
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2
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Laroudie N , Barnay-Toutain F , Rivière C , Bucher S , Le TH , Delaunay N , Gasmi M , Kotin RM , Bonne G , Adjali
5
2
9
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8
O , Masurier C , Hogrel JY , Carlier P , Moullier P , Voit T .
1
1] Atlantic Gene Therapies, INSERM UMR 1089, Université de Nantes, CHU de Nantes, Nantes, France [2] Généthon,
Evry, France.
2
Généthon, Evry, France.
3
Institut de Myologie, Service of Clinical Trials and Databases, Paris, France.
4
Atlantic Gene Therapies, INRA UMR 703, ONIRIS, Nantes, France.
5
Atlantic Gene Therapies, INSERM UMR 1089, Université de Nantes, CHU de Nantes, Nantes, France.
6
1] Institut de Myologie, Laboratoire RMN, AIM & CEA, Paris, France [2] UPR de Neurobiologie, Ecole Nationale
Vétérinaire d'Alfort, Maisons Alfort, France.
7
Institut de Myologie, Laboratoire RMN, AIM & CEA, Paris, France.
8
Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre and Marie Curie Paris 6 UPMC-INSERM
UMR 974, CNRS FRE 3617, Paris, France.
9
Institut de Myologie, Neuromuscular Physiology and Evaluation Laboratory, Paris, France.
10
1] Atlantic Gene Therapies, INRA UMR 703, ONIRIS, Nantes, France [2] Atlantic Gene Therapies, Centre de
Boisbonne, ONIRIS, Nantes, France.
11
Atlantic Gene Therapies, Centre de Boisbonne, ONIRIS, Nantes, France.
12
Research Institute, Center for Gene Therapy, Nationwide Childrens Hospital, Columbus, Ohio, USA.
13
Laboratory of Molecular Virology and Gene Therapy, National Heart Lung and Blood Institute, National Institute of
Health, Bethesda, Maryland, USA.
14
1] Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre and Marie Curie Paris 6 UPMC-INSERM
UMR 974, CNRS FRE 3617, Paris, France [2] AP-HP, Groupe Hospitalier Pitié-Salpêtrière, U.F. Cardiogénétique et
Myogénétique, Service de Biochimie Métabolique, Paris, France.
15
1] Atlantic Gene Therapies, INSERM UMR 1089, Université de Nantes, CHU de Nantes, Nantes, France [2] Généthon,
Evry, France [3] Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, Florida, USA.
27. Acta Anaesthesiol Taiwan. 2014 Sep 5. pii: S1875-4597(14)00086-1. doi: 10.1016/j.aat.2014.02.005. [Epub
ahead of print]
Usefulness of sugammadex in a patient with Becker muscular dystrophy and dilated cardiomyopathy.
1
2
1
1
Shimauchi T , Yamaura K , Sugibe S , Hoka S .
1
Department of Anesthesiology and Critical Care, Kyushu University Hospital, Fukuoka, Japan.
2
Operating Rooms, Kyushu University Hospital, Fukuoka, Japan. Electronic address: [email protected].
28. Rev Recent Clin Trials. 2014 Sep 8. [Epub ahead of print]
Beta-Blockers in Children with Duchenne Cardiomyopathy.
Matsumura T.
Department of Neurology National Hospital Organization Toneyama National Hospital Toneyama 5-1-1 Toyonaka Osaka
550-8552 Japan. [email protected].
7
29. Nat Med. 2014 Sep 4;20(9):987-8. doi: 10.1038/nm.3677.
Activating internal ribosome entry to treat Duchenne muscular dystrophy.
Lamandé SR, North KN.
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's
Hospital, Melbourne, Victoria, Australia.
30. NMR Biomed. 2014 Sep 6. doi: 10.1002/nbm.3199. [Epub ahead of print]
Muscle MRS detects elevated PDE/ATP ratios prior to fatty infiltration in Becker muscular dystrophy.
1
Wokke BH , Hooijmans MT, van den Bergen JC, Webb AG, Verschuuren JJ, Kan HE.
1
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
31. Muscle Nerve. 2014 Sep 8. doi: 10.1002/mus.24451. [Epub ahead of print]
Different types of upper extremity exercise training in Duchenne muscular dystrophy: Effects on functional
performance, strength, endurance, and ambulation.
1
Alemdaroğlu I , Karaduman A, Yilmaz OT, Topaloğlu H.
1
Bezmialem Vakıf University, Faculty of Health Sciences, Physiotherapy and Rehabilitation Department, Istanbul,
Turkey.
32. Gynecol Obstet Invest. 2014 Aug 29. [Epub ahead of print]
Preimplantational Genetic Diagnosis and Mutation Detection in a Family with Duplication Mutation of DMD
Gene.
1
Ye Y , Yu P, Yong J, Zhang T, Wei X, Qi M, Jin F.
1
Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou,
China.
33. Am J Pathol. 2014 Sep 3. pii: S0002-9440(14)00439-8. doi: 10.1016/j.ajpath.2014.07.021. [Epub ahead of print]
Serum Profiling Identifies Novel Muscle miRNA and Cardiomyopathy-Related miRNA Biomarkers in Golden
Retriever Muscular Dystrophy Dogs and Duchenne Muscular Dystrophy Patients.
1
2
2
2
2
3
4
5
4
6
Jeanson-Leh L , Lameth J , Krimi S , Buisset J , Amor F , Le Guiner C , Barthélémy I , Servais L , Blot S , Voit T ,
2
Israeli D .
1
Genethon, Evry, France. Electronic address: [email protected].
2
Genethon, Evry, France.
3
Genethon, Evry, France; INSERM UMR 1089, Atlantic Gene Therapies, Université de Nantes, CHU de Nantes, Nantes,
France.
4
Université Paris-Est, Ecole Nationale Vétérinaire d'Alfort, UPR de Neurobiologie, Maisons-Alfort, France.
5
Department of Therapeutic Trials and Databases, UM 76, CNRS, UMR 7215, Institut de Myologie, Paris, France.
6
INSERM, UMRS_974, Paris, France; Université Pierre et Marie Curie- Paris 6, UM 76, CNRS, UMR 7215, Institut de
Myologie, Paris, France.
34. Drugs. 2014 Sep 6. [Epub ahead of print]
Ataluren: First Global Approval.
Ryan NJ.
Springer, Private Bag 65901, Mairangi Bay 0754, Auckland, New Zealand, [email protected].
35. Neuromuscul Disord. 2014 Aug 1. pii: S0960-8966(14)00611-7. doi: 10.1016/j.nmd.2014.07.003. [Epub ahead of
print]
When a mid-intronic variation of DMD gene creates an ESE site.
1
2
2
2
2
2
2
Trabelsi M , Beugnet C , Deburgrave N , Commere V , Orhant L , Leturcq F , Chelly J .
1
Charles Nicolle Hospital, Congenital and Hereditary Diseases, Tunis, Tunisia; Faculty of Medicine, University Tunis El
Manar, Tunisia. Electronic address: [email protected].
2
Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, Paris, France.
8
36. Disabil Rehabil. 2014 Sep 5:1-8. [Epub ahead of print]
Transitioning to adulthood with a progressive condition: best practice assumptions and individual experiences
of young men with Duchenne muscular dystrophy.
1
Hamdani Y , Mistry B, Gibson BE.
1
Social and Behavioural Health Sciences Division, Dalla Lana School of Public Health, University of Toronto , Canada .
37. Arch Dis Child. 2014 Sep 3. pii: archdischild-2014-306366. doi: 10.1136/archdischild-2014-306366. [Epub ahead
of print]
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review.
van Ruiten HJ, Straub V, Bushby K, Guglieri M.
MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon
Tyne, UK.
Non-invasive assessment of muscle stiffness in patients with duchenne muscular dystrophy.
1
Lacourpaille L , Hug F, Guével A, Péréon Y, Magot A, Hogrel JY, Nordez A.
1
Laboratory «Motricité, Interactions, Performance» (EA 4334), University of Nantes, UFR STAPS, Nantes, France.
39. Am J Pathol. 2014 Aug 28. pii: S0002-9440(14)00424-6. doi: 10.1016/j.ajpath.2014.07.007. [Epub ahead of
print]
Dietary Phosphorus Overload Aggravates the Phenotype of the Dystrophin-Deficient mdx Mouse.
1
1
2
2
1
1
1
3
4
2
Wada E , Yoshida M , Kojima Y , Nonaka I , Ohashi K , Nagata Y , Shiozuka M , Date M , Higashi T , Nishino I ,
5
Matsuda R .
1
Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan.
2
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and
Psychiatry, Tokyo, Japan.
3
Kobayashi Institute of Physical Research, Tokyo, Japan.
4
Hitachi Aloka Medical, Ltd, Mitaka, Japan.
5
Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan. Electronic address: [email protected].
40. Soins Pediatr Pueric. 2014 Jul-Aug;(279):29-32.
[Caring for disabled teenagers in intensive care, a specific form of care].
[Article in French]
Micaëlli D.
41. Neurobiol Dis. 2014 Aug 26. pii: S0969-9961(14)00254-X. doi: 10.1016/j.nbd.2014.08.023. [Epub ahead of print]
Arginine butyrate per os protects mdx mice against cardiomyopathy, kyphosis and changes in axonal
excitability.
1
2
3
4
5
6
7
8
9
Vianello S , Bouyon S , Benoit E , Sebrié C , Boerio D , Herbin M , Roulot M , Fromes Y , de la Porte S .
1
CNRS, Institut de Neurobiologie Alfred Fessard, FRC2118, Neurobiologie & Développement, UPR 3294, Gif sur Yvette,
F-91198, France. Electronic address: [email protected].
2
UPMC, Université Paris 6, UMR 974, Institut de Myologie, F-75013 Paris, France. Electronic address:
[email protected].
3
4
CNRS, IR4M-UMR8081, Orsay, F-91405, France. Electronic address: [email protected].
5
6
CNRS, Muséum National d'Histoire Naturelle, CNRS, UMR7179, Pavillon d'anatomie comparée, BP 55, 52 Rue Cuvier,
75231 Paris Cedex 05, France. Electronic address: [email protected].
7
9
8
UPMC, Université Paris 6, UMR 974, Institut de Myologie, F-75013 Paris, France; ONIRIS, Centre de Boisbonne,
Nantes F-44307, France. Electronic address: [email protected].
9
Whole Body Periodic Acceleration Is an Effective Therapy to Ameliorate Muscular Dystrophy in mdx Mice.
1
2
3
4
5
6
7
6
Altamirano F , Perez CF , Liu M , Widrick J , Barton ER , Allen PD , Adams JA , Lopez JR .
1
Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, California,
United States of America.
2
Department of Anesthesiology Perioperative and Pain Medicine, Brigham & Women's Hospital, Harvard Medical
School, Boston, Massachusetts, United States of America.
3
Department of Physiology, Perleman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania,
United States of America.
4
Division of Genetics and Program in Genomics, Boston Children's Hospital, Harvard Medical School, Boston,
Massachusetts, United States of America.
5
Anatomy and Cell Biology, School of Dental Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United
States of America.
6
Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, California,
United States of America; Department of Anesthesiology Perioperative and Pain Medicine, Brigham & Women's
Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
7
Division of Neonatology, Mount Sinai Medical Center, Miami, Florida, United States of America.
Dystrophie musculaire facio-scapulo-humérale - Facioscapulohumeral muscular dystrophy
(FSHD)
43. Cell Rep. 2014 Aug 27. pii: S2211-1247(14)00658-5. doi: 10.1016/j.celrep.2014.07.056. [Epub ahead of print]
Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene.
1
1
1
1
2
3
4
4
4
Dandapat A , Bosnakovski D , Hartweck LM , Arpke RW , Baltgalvis KA , Vang D , Baik J , Darabi R , Perlingeiro RC ,
5
3
2
6
Hamra FK , Gupta K , Lowe DA , Kyba M .
1
Lillehei Heart Institute, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA; Department of
Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA.
2
Program in Physical Medicine and Rehabilitation, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN
55455, USA.
3
Vascular Biology Center, Division of Hematology, Oncology, and Transplantation, Department of Medicine MMC 480,
420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.
4
Medicine, University of Minnesota, 312 Church Street SE, Minneapolis, MN 55455, USA.
5
Department of Pharmacology, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas
Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
6
Pediatrics, University of Minnesota, 2231 6th Street SE, Minneapolis, MN 55455, USA. Electronic address:
[email protected].
44. Neuromuscul Disord. 2014 Jun 26. pii: S0960-8966(14)00151-5. doi: 10.1016/j.nmd.2014.05.012. [Epub ahead
of print]
Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual
muscle involvement.
1
2
3
4
4
1
5
Rijken NH , van der Kooi EL , Hendriks JC , van Asseldonk RJ , Padberg GW , Geurts AC , van Engelen BG .
1
Department of Rehabilitation, Radboud University Medical Center, Nijmegen, The Netherlands.
2
Department of Neurology, Medical Centre Leeuwarden, Leeuwarden, The Netherlands.
3
Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
5
Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:
[email protected].
10
Dystrophies myotoniques - Myotonic dystrophies
NKX2-5, a Modifier of Skeletal Muscle Pathology due to RNA Toxicity.
1
1
1
1
1
2
Gladman JT , Yadava RS , Mandal M , Yu Q , Kim YK , Mahadevan MS .
1
Department of Pathology, University of Virginia, Charlottesville, Virginia, 22908, USA.
2
Department of Pathology, University of Virginia, Charlottesville, Virginia, 22908, USA [email protected].
Phenotypic variability and molecular genetics in proximal myotonic myopathy.
1
Papadimas GK , Kekou K, Papadopoulos C, Kararizou E, Kanavakis E, Manta P.
1
Department of Neurology, University of Athens, Medical School, Aeginition Hospital, Athens, Greece.
Introduction: Myotonic Dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat
expansion in intron 1 of the CNBP gene Methods: We studied the first 16 Greek DM2 patients who had undergone
thorough evaluation. Results: The age at diagnosis ranged from 38 to 69 years. The initial symptoms were proximal
weakness, myalgias, and myotonia. Clinical myotonia was elicited in 10 patients, while electromyographic myotonic
discharges were observed in almost all. Subcapsular cataract was frequently present, while cardiac arrhythmias were
rare. Discussion: In this study of Greek DM2 patients, proximal weakness was the most common initial symptom.
Myalgias were also reported in a few patients, while myotonia was not an important complaint. Although DM2 is
considered relatively benign, there are patients who may be affected severely. Thus, a high index of suspicion must be
maintained in order to make a timely diagnosis, especially in those of reproductive age. © 2014 Wiley Periodicals, Inc.
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva
47. Pathology. 2014 Oct;46 Suppl 2:S10. doi: 10.1097/01.PAT.0000454080.86299.b1.
Dermatopathology: SS07-2 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA.
Al-Zaid TJ.
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Laminopathies - Laminopathies
48. Eur Heart J Cardiovasc Imaging. 2014 Sep 3. pii: jeu144. [Epub ahead of print]
An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.
1
2
1
1
Kwon HW , Kwon BS , Bae EJ , Chae JH .
1
Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744,
South Korea.
2
South Korea [email protected].
49. Nucleus. 2014 Sep 2;5(5). [Epub ahead of print]
Diverse lamin-dependent mechanisms interact to control chromatin dynamics: Focus on laminopathies.
Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S, Lattanzi G.
CNR Institute for Molecular Genetics; Unit of Bologna and SC Laboratory of Muscoskeletal Cell Biology; Rizzoli
Orthopedic Institute; Bologna, Italy.
50. Med Sci (Paris). 2014 Aug-Sep;30(8-9):745-7. doi: 10.1051/medsci/20143008010. Epub 2014 Sep 1.
[Chemical inhibition of NAT10 corrects defects of laminopathic cells].
[Article in French]
1
2
3
Larrieu D , Rodriguez R , Britton S .
1
The Wellcome Trust/Cancer Research UK Gurdon Institute and Department of Biochemistry, University of Cambridge,
Tennis Court Road, CB2 1QN Cambridge, Royaume-Uni.
2
Institut de chimie des substances naturelles, CNRS, Gif-sur-Yvette, France.
11
3
Institut de pharmacologie et de biologie structurale, CNRS, Université de Toulouse-Université Paul Sabatier, équipe
labellisée Ligue contre le cancer, 31077 Toulouse, France.
Maladie de Pompe – Pompe’s disease
Altered activation of the tibialis anterior in individuals with pompe disease: Implications for motor unit
dysfunction.
1
Corti M , Smith BK, Falk DJ, Lee Ann L, Fuller DD, Subramony SH, Byrne BJ, Christou EA.
1
Department of Pediatrics, College of Medicine, University of Florida, Gainesville, Florida, USA; Department of
Neurology, College of Medicine, University of Florida, Gainesville, Florida, USA.
52. Front Aging Neurosci. 2014 Jul 23;6:177. doi: 10.3389/fnagi.2014.00177. eCollection 2014.
Pompe disease: from pathophysiology to therapy and back again.
Lim JA, Li L, Raben N.
Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin
Diseases (NIAMS), National Institutes of Health Bethesda, MD, USA.
Myasthénie autoimmune– Myasthenia Gravis
53. Neural Regen Res. 2014 Apr 15;9(8):851-6. doi: 10.4103/1673-5374.131611.
Fusion protein of single-chain variable domain fragments for treatment of myasthenia gravis.
Li F, Meng F, Jin Q, Sun C, Li Y, Li H, Jin S.
Department of Immunology and Pathogenic Biology, College of Medicine, Yanbian University, Yanji, Jilin Province,
China.
54. Autoimmun Rev. 2014 Sep 3. pii: S1568-9972(14)00183-9. doi: 10.1016/j.autrev.2014.08.039. [Epub ahead of
print]
Cortactin autoantibodies in myasthenia gravis.
1
1
2
3
1
1
1
1
Gallardo E , Martínez-Hernández E , Titulaer MJ , Huijbers MG , Martínez MA , Ramos A , Querol L , Díaz-Manera J ,
1
4
3
4
5
6
Rojas-García R , Hayworth CR , Verschuuren JJ , Balice-Gordon R , Dalmau J , Illa I .
1
Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona,
Spain.
2
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
3
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
4
Department of Neuroscience, University of Pennsylvania, PA, USA.
5
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona,
Barcelona, Spain; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA; Institució Catalana de
Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
6
Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona,
Spain. Electronic address: [email protected].
Insights into the classification of myasthenia gravis.
1
2
3
4
5
6
7
8
1
1
Akaishi T , Yamaguchi T , Suzuki Y , Nagane Y , Suzuki S , Murai H , Imai T , Motomura M , Fujihara K , Aoki M ,
4
Utsugisawa K .
1
Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
2
Division of Biostatistics, Tohoku University Graduate School of Medicine, Sendai, Japan.
3
Department of Neurology, Sendai Medical Center, Sendai, Japan.
4
Department of Neurology, Hanamaki General Hospital, Hanamaki, Japan.
5
Department of Neurology, Keio University School of Medicine, Tokyo, Japan.
12
6
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka,
Japan.
7
School of Health Sciences, Sapporo Medical University, Sapporo, Japan.
8
Medical Engineering Course, Department of Engineering, The Faculty of Engineering, Nagasaki Institute of Applied
Science, Nagasaki, Japan.
56. Eur J Anaesthesiol. 2014 Sep 4. [Epub ahead of print]
Reversal of neuromuscular blockade with sugammadex in patients with myasthenia gravis: A case series of 21
patients and review of the literature.
1
de Boer HD , Shields MO, Booij LH.
1
From the Department of Anaesthesia and Pain Medicine, Martini General Hospital Groningen, the Netherlands (HDDB),
Department of Anaesthesia, Royal Victoria Hospital, Belfast, Ireland (MOS), and Department of Anaesthesiology, Pain
and Palliative Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands (LHDJB).
57. J Cardiothorac Surg. 2014 Sep 5;9(1):146. [Epub ahead of print]
May positron emission tomography reveal ectopic or active thymus in preoperative evaluation of nonthymomatous myasthenia gravis?
Mineo T, Ambrogi V, Schillaci O.
58. J Neurosci. 2014 Sep 3;34(36):11870-83. doi: 10.1523/JNEUROSCI.0329-14.2014.
Schwann Cells Sense and Control Acetylcholine Spillover at the Neuromuscular Junction by α7 Nicotinic
Receptors and Butyrylcholinesterase.
1
2
3
4
5
6
7
8
9
Petrov KA , Girard E , Nikitashina AD , Colasante C , Bernard V , Nurullin L , Leroy J , Samigullin D , Colak O ,
10
11
12
Nikolsky E , Plaud B , Krejci E .
1
COGNAC G, Université Paris Descartes, CNRS, Service de Santé des Armées, UMR 8257, MD 4, 75006 Paris,
France, A.E. Arbuzov Institute of Organic and Physical Chemistry, Kazan 420088, Russia, Kazan Federal University,
Kazan 420008, Russia.
2
France, Laboratoire de Biologie Moléculaire de la Cellule, CNRS UMR 5239/ENS Lyon, Université de Lyon, 69364 Lyon
cedex 07, France.
3
France, Kazan Institute of Biochemistry and Biophysics, Kazan 420111, Russia, A.E. Arbuzov Institute of Organic and
Physical Chemistry, Kazan 420088, Russia.
4
France, Laboratory of Behavioral Physiology, Faculty of Medicine, University of Los Andes, Mérida 5101 Venezuela,
and.
5
Neuroscience Paris Seine, Université Pierre et Marie Curie UM CR 18, CNRS UMR 8246, INSERM U1130, 75005
Paris, France.
6
Kazan Institute of Biochemistry and Biophysics, Kazan 420111, Russia, Kazan State Medical University, Kazan
420012, Russia.
7
France.
8
Kazan Institute of Biochemistry and Biophysics, Kazan 420111, Russia.
9
France, Akdeniz University, Faculty of Engineering, 07058 Antalya, Turkey.
10
Kazan Institute of Biochemistry and Biophysics, Kazan 420111, Russia, Kazan Federal University, Kazan 420008,
Russia, Kazan State Medical University, Kazan 420012, Russia.
11
France, Paris-Diderot University and Assistance Publique Hôpitaux de Paris, Department of Anesthesiology and
Surgical Critical Care, Hôpital Saint-Louis, 75475 Paris cedex 10, France.
12
France, [email protected].
59. Respir Care. 2014 Sep 2. pii: respcare.03210. [Epub ahead of print]
Myasthenia Gravis Presenting Initially as Acute Respiratory Failure.
13
1
1
1
1
1
2
1
1
1
3
Lee SJ , Hur J , Lee TW , Ju S , Lee SH , Park KJ , Cho YJ , Jeong YY , Lee JD , Kim HC .
1
Division of Pulmonology and Allergy, Department of Internal Medicine.
2
Department of Neurology, College of Medicine, Gyeongsang National University, Jinju, Korea.
3
Division of Pulmonology and Allergy, Department of Internal Medicine [email protected].
60. Acta Anaesthesiol Scand. 2014 Oct;58(9):1154-8. doi: 10.1111/aas.12391. Epub 2014 Sep 3.
High-dose rocuronium for rapid-sequence induction and reversal with sugammadex in two myasthenic patients.
1
Casarotti P , Mendola C, Cammarota G, Della Corte F.
1
Department of Translational Medicine, Maggiore Hospital School of Medicine, Novara, Italy.
61. J Am Geriatr Soc. 2014 Jan;62(1):196-7.
Myasthenia gravis: a disease of the very old.
Aragonès JM, Roura-Poch P, Hernández-Ocampo EM, Alonso F, Pont-Lluelles M, Xandri I, Bolíbar I, Illa I.
Letter
62. Clin Neurol Neurosurg. 2014 Aug 20;125C:217-221. doi: 10.1016/j.clineuro.2014.07.036. [Epub ahead of print]
Japanese cases of neuromyelitis optica spectrum disorder associated with myasthenia gravis and a review of
the literature.
1
2
3
4
2
2
5
6
6
Ikeguchi R , Shimizu Y , Suzuki S , Shimizu S , Kabasawa C , Hashimoto S , Masuda M , Nagane Y , Utsugisawa K ,
7
8
9
8
3
2
Suzuki Y , Takahashi T , Utsumi H , Fujihara K , Suzuki N , Uchiyama S .
1
Department of Neurology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan. Electronic address:
[email protected].
2
Department of Neurology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
3
Department of Neurology, Keio University School of Medicine, Tokyo, Japan.
4
Medical Research Institute, Tokyo Women's Medical University, Tokyo, Japan.
5
Department of Neurology, Tokyo Medical University, Tokyo, Japan.
6
Department of Neurology, Hanamaki General Hospital, Iwate, Japan.
7
Department of Neurology, National Hospital Organization Sendai Medical Center, Sendai, Japan.
8
Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
9
Department of Neurology, Kamata General Hospital, Tokyo, Japan.
63. Acta Neurol Scand. 2014 Aug 29. doi: 10.1111/ane.12289. [Epub ahead of print]
Eight-year follow-up of patients with myasthenia gravis after thymectomy.
1
Yu S , Li F, Chen B, Lin J, Yang M, Fu X, Li J, Bu B.
1
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology,
Wuhan, China.
Myopathies congénitales – Congenital Myopathies
64. Cell Transplant. 2014 Jul 25. [Epub ahead of print]
Syngeneic myoblast transplantation improves muscle function in a murine model of X-linked myotubular
myopathy.
[No authors listed]
Myopathies distales – Distal myopathies
65. Neuropathol Appl Neurobiol. 2014 Sep 4. doi: 10.1111/nan.12179. [Epub ahead of print]
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal
myopathy due to a MATR3 mutation.
14
1
Yamashita S , Mori A, Nishida Y, Kurisaki R, Tawara N, Nishikami T, Misumi Y, Ueyama H, Imamura S, Higuchi Y,
Hashiguchi A, Higuchi I, Morishita S, Yoshimura J, Uchino M, Takashima H, Tsuji S, Ando Y.
1
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku,
Kumamoto 860-8556, Japan.
KEYWORDS:
Japanese family; Vocal cord and pharyngeal weakness with distal myopathy (VCPDM); exome sequencing; matrin 3
(MATR3); motor neuron disease
Myopathies liées à GNE – GNE myopathies
print]
Atypical presentation of GNE myopathy with asymmetric hand weakness.
1
2
2
3
2
4
1
1
5
de Dios JK , Shrader JA , Joe GO , McClean JC , Williams K , Evers R , Malicdan MC , Ciccone C , Mankodi A ,
1
6
4
1
7
Huizing M , McKew JC , Bluemke DA , Gahl WA , Carrillo-Carrasco N .
1
Medical Genetics Branch (MGB), National Human Genome Research Institute (NHGRI), National Institutes of Health
(NIH), USA.
2
Department of Rehabilitation Medicine, NIH Clinical Center, USA.
3
Department of Neurology, San Antonio Military Medical Center, USA.
4
Radiology and Imaging Sciences, NIH Clinical Center, USA.
5
National Institute of Neurological Disorders and Stroke (NINDS), NIH, USA.
6
Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences
(NCATS), NIH, USA.
7
Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences
(NCATS), NIH, USA. Electronic address: [email protected].
Myopathies inflammatoires - Inflammatory myopathies
67. Autoimmun Rev. 2014 Aug 23. pii: S1568-9972(14)00167-0. doi: 10.1016/j.autrev.2014.08.023. [Epub ahead of
print]
Impact of treatment on survival in polymyositis and dermatomyositis. A single-centre long-term follow-up study.
1
2
2
3
4
2
Danieli MG , Gambini S , Pettinari L , Logullo F , Veronesi G , Gabrielli A .
1
Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche, Ancona, Italy.
Electronic address: [email protected].
2
Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche, Ancona, Italy.
3
Clinica Neurologica, Università Politecnica delle Marche, Ancona, Italy.
4
Centro ricerche EPIMED - Epidemiologia e Medicina Preventiva, Università degli studi dell'Insubria, Varese, Italy.
68. Scand J Rheumatol. 2014 Sep 10:1-6. [Epub ahead of print]
Increased subsequent risk of acute coronary syndrome for patients with dermatomyositis/polymyositis: a
nationwide population-based retrospective cohort study.
1
Lin YN , Lin CL, Chang KC, Kao CH.
1
Division of Cardiology, Department of Internal Medicine, China Medical University Hospital , Taichung , Taiwan.
69. Curr Opin Rheumatol. 2014 Sep 8. [Epub ahead of print]
Interstitial lung disease associated with the idiopathic inflammatory myopathies and the antisynthetase
syndrome: recent advances.
1
Hallowell RW , Danoff SK.
1
aDivision of Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, Beth Israel Deaconess Medical
Center, Harvard Medical School, Boston, Massachusetts bDivision of Pulmonary and Critical Care Medicine,
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
70. Curr Opin Rheumatol. 2014 Sep 8. [Epub ahead of print]
Necrotizing myopathies: beyond statins.
Mammen AL.
15
Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Expression, National Institute of Arthritis and
Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
71. Arthritis Care Res (Hoboken). 2014 Sep 8. doi: 10.1002/acr.22468. [Epub ahead of print]
Lower extremity peak force and gait kinematics in individuals with inclusion body myositis.
1
Davenport TE , Benson K, Baker S, Gracey C, Rakocevic G, McElroy B, Dalakas M, Shrader JA, Harris-Love MO.
1
University of the Pacific Thomas J. Long School of Pharmacy and Health Sciences, Stockton, California.
72. Ann Rheum Dis. 2014 Sep 5. pii: annrheumdis-2014-205800. doi: 10.1136/annrheumdis-2014-205800. [Epub
ahead of print]
Risk of deep venous thrombosis and pulmonary embolism in individuals with polymyositis and
dermatomyositis: a general population-based study.
1
2
1
3
Carruthers EC , Choi HK , Sayre EC , Aviña-Zubieta JA .
1
Arthritis Research Centre of Canada, Richmond, British Columbia, Canada.
2
Arthritis Research Centre of Canada, Richmond, British Columbia, Canada Division of Rheumatology, Allergy and
Immunology, Department of Rheumatology, Harvard Medical School, Boston, Massachusetts, USA Division of
Rheumatology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
3
Arthritis Research Centre of Canada, Richmond, British Columbia, Canada Division of Rheumatology, Department of
Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
73. Arthritis Rheumatol. 2014 Sep 3. doi: 10.1002/art.38866. [Epub ahead of print]
Autoantibodies to DNA mismatch repair enzymes in polymyositis/dermatomyositis and other autoimmune
diseases: A possible marker of favorable prognosis.
1
Muro Y , Nakashima R, Hosono Y, Sugiura K, Mimori T, Akiyama M.
1
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya,
466-8550, Japan.
74. Arthritis Rheumatol. 2014 Sep 3. doi: 10.1002/art.38863. [Epub ahead of print]
Expression of the Dermatomyositis Autoantigen TIF1γ in Regenerating Muscle.
1
Mohassel P , Rosen P, Casciola-Rosen L, Pak K, Mammen AL.
1
Johns Hopkins University School of Medicine, Baltimore, MD.
75. An Bras Dermatol. 2014 Sep;89(5):719-27.
Dermatomyositis: analysis of 109 patients surveyed at the Hospital das Clínicas (HCFMUSP), São Paulo, Brazil.
Ortigosa LC, Reis VM.
Universidade de São Paulo, São Paulo, SP, Brazil.
76. Rep Pract Oncol Radiother. 2014 Jul 15;19(5):332-6. doi: 10.1016/j.rpor.2014.02.005. eCollection 2014.
Nasopharyngeal carcinoma in dermatomyositis patients: A 10-year retrospective review in Hospital Selayang,
Malaysia.
1
2
3
3
3
Teoh JW , Yunus RM , Hassan F , Ghazali N , Abidin ZA .
1
Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia ; Selayang Hospital, Kuala Lumpur, Malaysia.
2
Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
3
Selayang Hospital, Kuala Lumpur, Malaysia.
77. Curr Rheumatol Rep. 2014 Oct;16(10):446. doi: 10.1007/s11926-014-0446-3.
Strategies for evaluating idiopathic inflammatory myopathy disease susceptibility genes.
1
Rothwell S , Cooper RG, Lamb JA, Chinoy H.
1
Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK.
16
print]
Identification of a novel myositis-associated antibody directed against cortactin.
1
2
3
3
4
3
Labrador-Horrillo M , Martínez MA , Selva-O'Callaghan A , Trallero-Araguás E , Grau-Junyent JM , Vilardell-Tarrés M ,
2
Juarez C .
1
Internal Medicine Department, Vall d'Hebron General Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain.
2
Immunology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.
3
Internal Medicine Department, Vall d'Hebron General Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain.
4
Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Fundación
Cellex, Barcelona, Spain.
print]
Four dermatomyositis-specific autoantibodies-anti-TIF1γ, anti-NXP2, anti-SAE and anti-MDA5-in adult and
juvenile patients with idiopathic inflammatory myopathies in a Hungarian cohort.
1
2
3
4
5
6
Bodoki L , Nagy-Vincze M , Griger Z , Betteridge Z , Szöllősi L , Dankó K .
1
Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen,
Hungary. Electronic address: [email protected].
2
3
4
Royal National Hospital for Rheumatic Diseases, NHS Foundation Trust, Upper Borough Walls, Bath, Somerset BA1
1RL, UK. Electronic address: [email protected].
5
6
print]
Subcutaneous IgG in immune-mediate diseases: proposed mechanisms of action and literature review.
1
2
2
2
2
3
Danieli MG , Gelardi C , Pedini V , Moretti R , Gabrielli A , Logullo F .
1
Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche & Ospedali Riuniti,
Ancona, Italy. Electronic address: [email protected].
2
Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche & Ospedali Riuniti,
Ancona, Italy.
3
Clinica Neurologica, Università Politecnica delle Marche & Ospedali Riuniti, Ancona, Italy.
81. Clin Exp Immunol. 2014 Aug 29. doi: 10.1111/cei.12445. [Epub ahead of print]
Cytokines in immune-mediated inflammatory myopathies: cellular sources, multiple actions and therapeutic
implications.
1
Moran EM , Mastaglia FL.
1
Institute for Immunology & Infectious Diseases (IIID), Murdoch University, Murdoch, WA, Australia.
82. Br J Radiol. 2014 Sep 3:20140261. [Epub ahead of print]
Diffusion Tensor Imaging in Evaluation of Thigh Muscles in Patients with Polymyositis and Dermatomyositis.
1
Ai T , Yu K, Gao L, Zhang P, Goerner F, Runge VA, Li X.
1
Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology,
Wuhan, China.
17
Myopathies métaboliques - Metabolic myopathies
83. Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC.
Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.
[email protected].
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
1
Cabrera-Serrano M , Junckerstorff RC, Atkinson V, Sivadorai P, Allcock RJ, Lamont P, Laing NG.
1
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA,
Australia; Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla,
Seville, Spain.
85. Hum Gene Ther. 2014 Sep 3. [Epub ahead of print]
Lentiviral Hematopoietic Stem Cell Gene Therapy in Inherited Metabolic Disorders.
Wagemaker G.
Erasmus University Rotterdam, Rotterdam, Netherlands, Hacettepe University, Center for Stem Cell Research and
Development, Ankara, Turkey ; [email protected].
86. Clin Med Insights Cardiol. 2014 Aug 11;8:67-9. doi: 10.4137/CMC.S16143. eCollection 2014.
Aborted sudden cardiac death and a mother with suspected metabolic myopathy.
1
2
2
Finsterer J , Stöllberger C , Keller H .
1
Krankenanstalt Rudolfstiftung, Vienna, Austria.
2
2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Myopathies mitochondriales – Mitochondrial myopathies
87. Neurogenetics. 2014 Sep 6. [Epub ahead of print]
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant
mitochondrial myopathy.
1
Ajroud-Driss S , Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, HeimanPatterson TD, Siddique T.
1
Division of Neuromuscular Medicine, The Ken and Ruth Davee Department of Neurology and Clinical Neurosciences,
Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA, [email protected].
Mitochondrial myopathies in adults and children: management and therapy development.
1
Pitceathly RD , McFarland R.
1
aDepartment of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College
London, London bWellcome Trust Centre for Mitochondrial Research, Newcastle University and NUTH NHS Foundation
Trust, Newcastle upon Tyne, UK.
Myopathies myofibrillaires – Myofibrillar myopathies
89. Orphanet J Rare Dis. 2014 Aug 1;9(1):121. [Epub ahead of print]
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of
myofibrillar myopathies.
Semmler AL, Sacconi S, Bach J, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ,
De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder J, Vorgerd M, Schulz JB, Weis J, Kress
W, Claeys KG.
18
Myotonies congénitales –Myotonia congenita
90. Neurosci Bull. 2014 Sep 5. [Epub ahead of print]
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2
mutation and two CLCN1 mutations.
1
Li HF , Chen WJ, Ni W, Wu ZY.
1
Department of Neurology and Institute of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang
University, Hangzhou, 310009, China.
Paroxysmal kinesigenic dyskinesia (PKD) and myotonia congenita (MC) are independent disorders that share some
clinical features. We aimed to investigate the sequences of PRRT2 and CLCN1 in a proband diagnosed with PKD and
suspected MC. Clinical evaluation and auxiliary examinations were performed. Direct sequencing of the entire coding
regions of the PRRT2 and CLCN1 genes was conducted. Haplotype analysis confirmed the relationships among the
family members. The proband suffered choreoathetosis attacks triggered by sudden movements, and lower-limb
weakness and stiffness that worsened in cold weather. Carbamazepine monotherapy completely controlled his
choreoathetosis and significantly relieved his limb weakness and stiffness. His father, when young, had similar limb
stiffness, while his mother and brother were asymptomatic. Genetic analysis revealed that the proband and his father
harbored a PRRT2 c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations. His brother carried only the
two CLCN1 mutations. None of these mutations were identified in his mother and 150 unrelated controls. This is the first
report showing the coexistence of PRRT2 and CLCN1 mutations. Our results also indicate that both the PRRT2 and
CLCN1 genes need to be screened if we fail to identify PRRT2 mutations in PKD patients or CLCN1 mutations in MC
patients.
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome
91. Pediatr Neurol. 2014 Aug 6. pii: S0887-8994(14)00461-5. doi: 10.1016/j.pediatrneurol.2014.07.032. [Epub
ahead of print]
Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome.
1
2
3
Das AS , Agamanolis DP , Cohen BH .
1
Northeast Ohio Medical University, Rootstown, Ohio.
2
Department of Pathology and Laboratory Medicine, Akron Children's Hospital, Akron, Ohio; Department of Pathology,
Northeast Ohio Medical University, Rootstown, Ohio.
3
Division of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, Ohio; Department of
Pediatrics, Northeast Ohio Medical University, Rootstown, Ohio. Electronic address: [email protected].
92. PLoS One. 2014 Aug 28;9(8):e106425. doi: 10.1371/journal.pone.0106425. eCollection 2014.
A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome.
1
2
3
4
5
1
4
6
4
Rinz CJ , Levine J , Minor KM , Humphries HD , Lara R , Starr-Moss AN , Guo LT , Williams DC , Shelton GD , Clark
1
LA .
1
Department of Genetics and Biochemistry, College of Agriculture, Forestry, and Life Sciences, Clemson University,
Clemson, South Carolina, United States of America.
2
Department of Small Animal Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M
University, College Station, Texas, United States of America.
3
Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul,
Minnesota, United States of America.
4
Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California, United States of
America.
5
Kingdom Animal Hospital, Bryan, Texas, United States of America.
6
R. Prichard Veterinary Medical Teaching Hospital, University of California Davis, Davis, California, United States of
America.
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases)
93. J Physiol. 2014 Sep 5. [Epub ahead of print]
Nitric oxide synthase deficiency and the pathophysiology of muscular dystrophy.
1
2
Tidball JG , Wehling-Henricks M .
19
1
Molecular, Cellular & Integrative Physiology Program, University of California, Los Angeles, CA Department of
Integrative Biology and Physiology, University of California, Los Angeles, CA Department of Pathology and Laboratory
Medicine, David Geffen School of Medicine at UCLA, University of California, Los Angeles, CA [email protected].
2
Department of Integrative Biology and Physiology, University of California, Los Angeles, CA.
print]
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear
envelopathies.
1
2
Sewry CA , Goebel HH .
1
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children and Institute of Child Health, London, UK.
2
Charité - Universitätsmedizin Berlin, Germany. Electronic address: [email protected].
95. Rev Neurol (Paris). 2014 Sep 1. pii: S0035-3787(14)00913-8. doi: 10.1016/j.neurol.2014.06.003. [Epub ahead of
print]
Be careful about abdominal discomfort in adult patients with muscular dystrophy.
1
2
2
2
2
2
2
Fayssoil A , Ritzenthaler T , Luis D , Hullin T , Clair B , Annane D , Orlikowski D .
1
Raymond-Poincaré hospital, AP-HP, university of Versailles SQY, 104, boulevard Raymond-Poincaré, 92380 Garches,
France. Electronic address: [email protected].
2
Raymond-Poincaré hospital, AP-HP, university of Versailles SQY, 104, boulevard Raymond-Poincaré, 92380 Garches,
France.
Skeletal muscle satellite cells: Mediators of muscle growth during development and implications for
developmental disorders.
1
Dayanidhi S , Lieber RL.
1
Department of Orthopaedic Surgery, University of California, San Diego, CA, USA; Department of Veterans Affairs
Medical Center, San Diego, CA, USA.
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
97. J Pediatr Orthop. 2014 Oct-Nov;34 Suppl 1:S44-8. doi: 10.1097/BPO.0000000000000259.
Update on neuromuscular disorders in pediatric orthopaedics: duchenne muscular dystrophy,
myelomeningocele, and cerebral palsy.
Chambers HG.
*Clinical Orthopedic Surgery, University of California †Rady Children's Hospital, San Diego, CA.
Innovative care model for patients with complex muscle diseases.
1
Quinlivan R , Matthews E, Hanna MG.
1
aMRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery bDubowitz
Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
Diagnostic outcome of muscle biopsy.
1
Shaibani A , Jabari D, Jabbour M, Arif C, Lee M, Rahbar MH.
1
Baylor College of Medicine, Nerve and Muscle Center of Texas, Houston, Texas, USA.
20
print]
Cortactin: A new target in autoimmune myositis and Myasthenia Gravis.
Berrih-Aknin S.
Sorbonne Universités, UPMC Univ Paris 06, Myology Research Center UM76, F-75013 Paris, France; INSERM U974,
F-75013 Paris, France; CNRS FRE 3617, F-75013 Paris, France; Institute of Myology, F-75013 Paris, France. Electronic
address: [email protected].
101. Ann Diagn Pathol. 2014 Oct;18(5):282-5. doi: 10.1016/j.anndiagpath.2014.08.001. Epub 2014 Aug 8.
Evaluation of simultaneous muscle and nerve biopsies for the diagnosis of neuromuscular diseases.
1
2
Chen DJ , Prayson RA .
1
Cleveland Clinic Department of Pathology, Cleveland, OH.
2
Cleveland Clinic Department of Pathology, Cleveland, OH; Cleveland Clinic Lerner College of Medicine of Case
Western Reserve University, Cleveland, OH. Electronic address: [email protected].
102. Semin Perinatol. 2014 Oct;38(6):359-369. doi: 10.1053/j.semperi.2014.07.004. Epub 2014 Aug 28.
Neurologic disease with pregnancy and considerations for the obstetric anesthesiologist.
1
2
1
3
Hopkins AN , Alshaeri T , Akst SA , Berger JS .
1
Department of Anesthesiology & Critical Care Medicine, The George Washington University School of Medicine &
Health Sciences, Washington, DC.
2
Wayne State University School of Medicine, Detroit, MI.
3
Department of Anesthesiology & Critical Care Medicine, The George Washington University School of Medicine &
Health Sciences, Washington, DC. Electronic address: [email protected].
print]
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
1
2
3
3
1
Ten Dam L , van der Kooi AJ , Rövekamp F , Linssen WH , de Visser M .
1
Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
2
Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:
[email protected].
3
Department of Neurology, Sint Lucas Andreas Ziekenhuis, Amsterdam, The Netherlands.
104. Sleep Med. 2014 Jul 28. pii: S1389-9457(14)00302-5. doi: 10.1016/j.sleep.2014.06.010. [Epub ahead of print]
Subjective sleep quality in stable neuromuscular patients under non-invasive ventilation.
1
2
2
2
3
Crescimanno G , Misuraca A , Purrazzella G , Greco F , Marrone O .
1
Italian National Research Council, Institute of Biomedicine and Molecular Immunology, Palermo, Italy; Centre for
Neuromuscular Disease, First Unit of Pneumology, V. Cervello Hospital, Palermo, Italy. Electronic address:
[email protected].
2
Italian Union Against Muscular Dystrophy (UILDM), Section of Palermo, Italy.
3
Italian National Research Council, Institute of Biomedicine and Molecular Immunology, Palermo, Italy.
105. Neurotherapeutics. 2014 Aug 29. [Epub ahead of print]
Triadopathies: An Emerging Class of Skeletal Muscle Diseases.
1
Dowling JJ , Lawlor MW, Dirksen RT.
1
Division of Neurology and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, Canada,
[email protected].
Divers - Miscellaneous
106. Expert Rev Neurother. 2014 Sep 4:1-14. [Epub ahead of print]
Potential therapeutic targets in polyglutamine-mediated diseases.
21
1
Katsuno M , Watanabe H, Yamamoto M, Sobue G.
1
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 4668550, Japan.
*
*
22
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
Rev Recent Clin Trials. 2014 Sep 8. [Epub ahead of print]
Beta-Blockers in Children with Duchenne Cardiomyopathy.
Matsumura T.
Department of Neurology National Hospital Organization Toneyama National Hospital Toneyama 5-1-1 Toyonaka Osaka
550-8552 Japan. [email protected].
Eur Heart J Cardiovasc Imaging. 2014 Sep 3. pii: jeu144. [Epub ahead of print]
An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.
1
2
1
1
Kwon HW , Kwon BS , Bae EJ , Chae JH .
1
South Korea.
2
South Korea [email protected].
23

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