Veille Neuromusculaire / Neuromuscular Alert

Transcription

Bibliographie sur les maladies neuromusculaires
Bibliography on neuromuscular disorders
n° 2016-01-2 du 15 au 28 janvier 2016 (January 15-28, 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
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA) ............... 1
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease .............................................................. 3
Dysferlinopathies - Dysferlinopathies........................................................................................................... 5
Dystroglycanopathies - Dystroglycanopathies ............................................................................................ 5
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies .......................................... 5
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker Dystrophinopathies......................................................................................................................................... 5
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy (FSHD) 12
Dystrophies myotoniques - Myotonic dystrophies ................................................................................... 13
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva .................................. 13
Laminopathies - Laminopathies .................................................................................................................. 14
Maladie de Pompe – Pompe’s disease........................................................................................................ 14
Myasthénie autoimmune– Myasthenia Gravis ........................................................................................... 16
Myopathies congénitales – Congenital Myopathies .................................................................................. 19
Myopathies inflammatoires - Inflammatory myopathies ........................................................................... 19
Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 22
Myopathies avec surcharge en filaments ou à inclusions –Myopathies with excess of filaments or
inclusions ....................................................................................................................................................... 22
Sélénopathies – Selenopathies ................................................................................................................... 23
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome ...................................... 23
Dystrophies musculaires (plusieurs pathologies) - Muscular dystrophies (several diseases) ........... 24
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 25
Sommaire par spécialités / specialties
Cardiologie - Cardiology .............................................................................................................................. 27
Pneumologie - Pneumology ......................................................................................................................... 28
Médecine physique et de réadaptation - Physical and rehabilitation medicine ..................................... 29
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA)
1.
Pediatr Neurol. 2015 Dec 24. pii: S0887-8994(15)30306-4. doi: 10.1016/j.pediatrneurol.2015.12.015. [Epub
ahead of print]
Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy.
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3
4
Mehta NM , Newman H , Tarrant S , Graham RJ .
1
Division of Critical Care Medicine, Department of Anesthesiology, Perioperative, and Pain Medicine, Boston Children's
Hospital, Boston, Massachusetts; Center for Nutrition, Boston Children's Hospital, Boston, Massachusetts; Harvard
Medical School, Boston, Massachusetts. Electronic address: [email protected].
2
Hospital, Boston, Massachusetts.
3
Center for Nutrition, Boston Children's Hospital, Boston, Massachusetts.
4
Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
AFM-Téléthon>Myodoc – 30/01/2016
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2.
Neuromuscul Disord. 2015 Dec 22. pii: S0960-8966(15)00801-9. doi: 10.1016/j.nmd.2015.12.003. [Epub ahead
of print]
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy
associated with the S230L mutation of SMN1.
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2
3
3
2
3
Rudnik-Schöneborn S , Barisić N , Eggermann K , Ortiz Brüchle N , Grđan P , Zerres K .
1
Institute of Human Genetics, Medical Faculty, Uniklinik RWTH Aachen, Aachen, Germany; Division of Human Genetics,
Medical University Innsbruck, Innsbruck, Austria. Electronic address: [email protected].
2
Department of Pediatrics, Zagreb Medical School, University Hospital Center, Zagreb, Croatia.
3
Institute of Human Genetics, Medical Faculty, Uniklinik RWTH Aachen, Aachen, Germany.
3. Front Cell Neurosci. 2016 Jan 11;9:506. doi: 10.3389/fncel.2015.00506. eCollection 2015.
Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important
in Neuronal Development.
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1
5
Fuller HR , Mandefro B , Shirran SL , Gross AR , Kaus AS , Botting CH , Morris GE , Sareen D .
1
Wolfson Centre for Inherited Neuromuscular Disease, The Robert Jones and Agnes Hunt Orthopaedic
HospitalOswestry, UK; Institute for Science and Technology in Medicine, Keele UniversityStaffordshire, UK.
2
Board of Governors-Regenerative Medicine Institute, Cedars-Sinai Medical CenterLos Angeles, CA, USA; iPSC Core,
The David and Janet Polak Foundation Stem Cell Core LaboratoryLos Angeles, CA, USA.
3
BSRC Mass Spectrometry and Proteomics Facility, University of St Andrews Fife, UK.
4
Board of Governors-Regenerative Medicine Institute, Cedars-Sinai Medical Center Los Angeles, CA, USA.
5
Board of Governors-Regenerative Medicine Institute, Cedars-Sinai Medical CenterLos Angeles, CA, USA; iPSC Core,
The David and Janet Polak Foundation Stem Cell Core LaboratoryLos Angeles, CA, USA; Department of Biomedical
Sciences, Cedars-Sinai Medical CenterLos Angeles, CA, USA.
4. Neurobiol Dis. 2016 Jan 11;88:118-124. doi: 10.1016/j.nbd.2016.01.008. [Epub ahead of print]
CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.
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3
5
Foran E , Kwon DY , Nofziger JH , Arnold ES , Hall MD , Fischbeck KH , Burnett BG .
1
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, United
States. Electronic address: [email protected].
2
States; Department of Neuroscience, Brown University, United States.
3
States.
4
CE Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, United States.
5
Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Services, United States.
5.
Neuromuscul Disord. 2015 Dec 3. pii: S0960-8966(15)30056-0. doi: 10.1016/j.nmd.2015.10.006. [Epub ahead
of print]
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.
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Mercuri E , Finkel R , Montes J , Mazzone ES , Sormani MP , Main M , Ramsey D , Mayhew A , Glanzman AM ,
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3
9
9
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4
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10
Dunaway S , Salazar R , Pasternak A , Quigley J , Pane M , Pera MC , Scoto M , Messina S , Sframeli M , Vita GL ,
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4
12
3
9
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6
D'Amico A , van den Hauwe M , Sivo S , Goemans N , Kaufmann P , Darras BT , Bertini E , Muntoni F , De Vivo
3
DC .
1
Department of Paediatric Neurology, Catholic University, Rome, Italy. Electronic address: [email protected].
2
Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
3
Department of Neurology, Columbia University Medical Center, New York, USA.
4
Department of Paediatric Neurology, Catholic University, Rome, Italy.
5
Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.
6
Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
7
Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
8
Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
9
Departments of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
10
Department of Neurosciences and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
11
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù
Children's Hospital, Rome, Italy.
12
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
2
6. Neurology. 2016 Jan 13. pii: 10.1212/WNL.0000000000002348. [Epub ahead of print]
Mandibular dysfunction as a reflection of bulbar involvement in SMA type 2 and 3.
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2
van Bruggen HW , Wadman RI , Bronkhorst EM , Leeuw M , Creugers N , Kalaykova SI , van der Pol WL , Steenks
2
MH .
1
From the Departments of Oral Function and Prosthetic Dentistry (H.W.v.B., N.C., S.I.K.) and Preventive and Restorative
Dentistry (E.M.B.), College of Dental Science, Radboud University Medical Center, Nijmegen; and Department of OralMaxillofacial Surgery, Prosthodontics and Special Dental Care (H.W.v.B., M.H.S.), and Department of Neurology and
Neurosurgery and Spieren voor Spieren Kindercentrum, Brain Center Rudolf Magnus (R.I.W., M.L., W.L.v.d.P.),
University Medical Center Utrecht, the Netherlands. [email protected].
2
From the Departments of Oral Function and Prosthetic Dentistry (H.W.v.B., N.C., S.I.K.) and Preventive and Restorative
Dentistry (E.M.B.), College of Dental Science, Radboud University Medical Center, Nijmegen; and Department of OralMaxillofacial Surgery, Prosthodontics and Special Dental Care (H.W.v.B., M.H.S.), and Department of Neurology and
Neurosurgery and Spieren voor Spieren Kindercentrum, Brain Center Rudolf Magnus (R.I.W., M.L., W.L.v.d.P.),
University Medical Center Utrecht, the Netherlands.
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease
7. PLoS One. 2016 Jan 27;11(1):e0147677. doi: 10.1371/journal.pone.0147677. eCollection 2016.
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
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Hsiao CT , Tsai PC , Lin CC , Liu YT , Huang YH , Liao YC , Huang HW , Lin KP , Soong BW
, Lee YC .
1
Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
2
Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC.
3
Brain Research Center, National Yang-Ming University, Taipei, Taiwan, ROC.
4
Department of Neurology, School of Medicine, National Cheng Kung University Hospital, Tainan, Taiwan, ROC.
5
Institute of Biomedical Informatics, National Yang-Ming University School of Medicine, Taipei, Taiwan.
6
Center for Systems and Synthetic Biology, National Yang-Ming University, Taipei, Taiwan.
8. J Peripher Nerv Syst. 2016 Jan 23. doi: 10.1111/jns.12160. [Epub ahead of print]
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate
dehydrogenase kinase isoenzyme 3 gene.
1,2
3,4
1
1
5
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3,6,4
Kennerson ML , Kim EJ , Siddell A , Kidambi A , Kim SM , Hong YB , Hwang SH , Chung KW , Choi BO .
1
Northcott Neuroscience Laboratory, ANZAC Research Institute & Sydney Medical School University of Sydney, Sydney,
NSW, Australia.
2
Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.
3
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
4
Neuroscience center, Samsung Medical Center, Seoul, Korea.
5
Department of Biological Sciences, Kongju National University, Gongju, Korea.
6
Stem cell & Regenerative Medicine Center, Seoul, Korea.
9. J Peripher Nerv Syst. 2016 Jan 23. doi: 10.1111/jns.12159. [Epub ahead of print]
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
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1
Xie YZ , Li XB , Liu L , Hu ZM , Huang S , Zhan YJ , Zi XH , Xia K , Tang BS , Zhang RX .
1
Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province,
China.
2
National Key Lab of Medical Genetics, Central South University, Changsha, 410078, Hunan Province, China.
10. Methods Cell Biol. 2016;131:311-29. doi: 10.1016/bs.mcb.2015.06.007. Epub 2015 Sep 2.
In vivo analysis of axonal transport in zebrafish.
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1
Drerup CM , Nechiporuk AV .
1
Department of Cell, Developmental and Cancer Biology, School of Medicine, Oregon Health & Science University,
Portland, OR, USA.
3
11. Neural Dev. 2016 Jan 20;11(1):2. doi: 10.1186/s13064-016-0058-x.
Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate
sensory neuron development.
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5
6,7,8,9
Ponomareva OY
, Eliceiri KW , Halloran MC
.
1
Department of Zoology, University of Wisconsin, 1117 West Johnson St., Madison, WI, 53706, USA.
[email protected].
2
Department of Neuroscience, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA.
[email protected].
3
Neuroscience Training Program, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA.
[email protected].
4
Medical Scientist Training Program, University of Wisconsin, 750 Highland Ave, Madison, WI, 53705, USA.
[email protected].
5
Laboratory for Optical and Computational Instrumentation, University of Wisconsin, 1675 Observatory Dr, Madison, WI,
53706, USA. [email protected].
6
Department of Zoology, University of Wisconsin, 1117 West Johnson St., Madison, WI, 53706, USA.
[email protected].
7
Department of Neuroscience, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA.
[email protected].
8
Neuroscience Training Program, University of Wisconsin, 1111 Highland Ave, Madison, WI, 53705, USA.
[email protected].
9
Medical Scientist Training Program, University of Wisconsin, 750 Highland Ave, Madison, WI, 53705, USA.
[email protected].
12. Nature. 2016 Jan 20. doi: 10.1038/nature16499. [Epub ahead of print]
Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
He W, Bai G, Zhou H, Wei N, White NM, Lauer J, Liu H, Shi Y, Dan Dumitru C, Lettieri K, Shubayev V, Jordanova A,
Guergueltcheva V, Griffin PR, Burgess RW, Pfaff SL, Yang XL.
13. Hum Mutat. 2016 Jan 20. doi: 10.1002/humu.22959. [Epub ahead of print]
DGAT2 Mutation in a Family with Autosomal Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
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Hong YB , Kang J , Kim JH , Lee J , Kwak G , Hyun YS , Nam SH , Hong HD , Choi YR , Jung SC , Koo H , Lee
2,7
2,3,8
4
JE , Choi BO , Chung KW .
1
Stem Cell & Regenerative Medicine Center, Seoul, Korea.
2
Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.
3
Neuroscience center, Seoul, Korea.
4
Department of Biological Sciences, Kongju National University, Gongju, Korea.
5
Department of Biochemistry, Mokdong Hospital, Seoul, Korea.
6
Pathology, Ewha Womans University School of Medicine, Mokdong Hospital, Seoul, Korea.
7
SGI, Samsung Medical Center, Seoul, Korea.
8
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea.
14. Sci Rep. 2016 Jan 18;6:19470. doi: 10.1038/srep19470.
Impaired differentiation of macrophage lineage cells attenuates bone remodeling and inflammatory
angiogenesis in Ndrg1 deficient mice.
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1
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3
Watari K , Shibata T , Nabeshima H , Shinoda A , Fukunaga Y , Kawahara A , Karasuyama K , Fukushi J , Iwamoto Y ,
4
1
Kuwano M , Ono M .
1
Department of Pharmaceutical Oncology, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka
812-8582, Japan.
2
Department of Diagnostic Pathology, Kurume University Hospital, Kurume 830-0011, Japan.
3
Department of Orthopedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582,
Japan.
4
Cancer Translational Research Center, St. Mary's Institute of Health Sciences, Kurume 830-8543, Japan.
4
15. J Peripher Nerv Syst. 2015 Dec;20(4):419-21. doi: 10.1111/jns.12139.
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
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3
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2
Scarlato M , Viganò F , Carrera P , Previtali SC , Bolino A .
1
Department of Neurology, INSPE and Division of Neuroscience, Milan, Italy.
2
Human Inherited Neuropathies Unit, INSPE and Division of Neuroscience, Milan, Italy.
3
Unit of Genomics for Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, and Laboratory of Clinical
Molecular Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Letter
Dysferlinopathies - Dysferlinopathies
16. Mol Ther Nucleic Acids. 2016 Jan 19;5:e277. doi: 10.1038/mtna.2015.52.
Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient
Muscle.
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2
2
2
1
Escobar H , Schöwel V , Spuler S , Marg A , Izsvák Z .
1
Mobile DNA, Max Delbrück Center for Molecular Medicine of the Helmholtz Society, Berlin, Germany.
2
Muscle Research Unit, Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité,
Universitätsmedizin Berlin and the Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Dystroglycanopathies - Dystroglycanopathies
17. Mol Biosyst. 2016 Jan 25. [Epub ahead of print]
Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain.
1
Michel Espinoza-Fonseca L .
1
Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.
[email protected].
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies
18. Neuromuscul Disord. 2015 Dec 18. pii: S0960-8966(15)30046-8. doi: 10.1016/j.nmd.2015.11.012. [Epub ahead
of print]
Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?
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2
Straub V , Bertoli M .
1
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle
upon Tyne, UK. Electronic address: [email protected].
2
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle
upon Tyne, UK.
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
- Dystrophinopathies
19. Sci Rep. 2016 Jan 27;6:19750. doi: 10.1038/srep19750.
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy
for Duchenne Muscular Dystrophy.
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1
Meng J , Counsell JR , Reza M , Laval SH , Danos O , Thrasher A , Lochmüller H , Muntoni F , Morgan JE .
1
The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme,
UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.
2
UCL Cancer Institute, Paul O'Gorman Building, University College London, 72 Huntley Street, London, UK, WC1E 6BT.
3
Molecular and Cellular Immunology, Institute of Child Health, University College London, 30 Guilford Street, London,
UK, WC1N 1EH.
4
John Walton Centre for Muscular Dystrophy Research, MRC Centre for Neuromuscular Diseases, Institute of Genetic
Medicine, Newcastle University, Newcastle upon Tyne, UK, NE1 3BZ.
5
20. Mol Ther Nucleic Acids. 2016 Jan 26;5:e283. doi: 10.1038/mtna.2015.58.
Efficient Restoration of the Dystrophin Gene Reading Frame and Protein Structure in DMD Myoblasts Using the
CinDel Method.
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Iyombe-Engembe JP , Ouellet DL , Barbeau X , Rousseau J , Chapdelaine P , Lagüe P , Tremblay JP .
1
Centre de Recherche du Centre Hospitalier, Universitaire de Québec, Neurosciences Axis, Quebec City, Québec,
Canada.
2
Faculty of Medicine, Department of Molecular Medicine, Université Laval, Quebec City, Québec, Canada.
3
Department of Chemistry, Université Laval, Quebec City, Québec, Canada.
4
Department of Biochemistry, Microbiology and Bioinformatics, Université Laval, Quebec City, Québec, Canada.
The Effects of Experimental Sleep Apnea on Cardiac and Respiratory Functions in 6 and 18 Month Old
Dystrophic (mdx) Mice.
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2,4,5
1
Chaudhari MR , Fallavollita JA
, Farkas GA .
1
Department of Exercise and Nutrition Sciences, University at Buffalo, Buffalo, New York, United States of America.
2
Department of Medicine, University at Buffalo, Buffalo, New York, United States of America.
3
Department of Epidemiology and Environmental Health, University at Buffalo, Buffalo, New York, United States of
America.
4
Center for Research in Cardiovascular Medicine, University at Buffalo, Buffalo, New York, United States of America.
5
VA Western New York Healthcare System at Buffalo, Buffalo, New York, United States of America.
22. Cell Calcium. 2016 Jan 6. pii: S0143-4160(16)00003-8. doi: 10.1016/j.ceca.2016.01.001. [Epub ahead of print]
Axial stretch-dependent cation entry in dystrophic cardiomyopathy: Involvement of several TRPs channels.
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Aguettaz E , Lopez JJ , Krzesiak A , Lipskaia L , Adnot S , Hajjar RJ , Cognard C , Constantin B , Sebille S .
1
Laboratoire de Signalisation et Transports Ioniques Membranaires (STIM CNRS ERL 7368), Equipe Transferts Ioniques
et Rythmicité Cardiaque (TIRC), Université de Poitiers, 86073 Poitiers Cedex 9, France.
2
Laboratoire de Signalisation et Transports Ioniques Membranaires (STIM CNRS ERL 7368), Equipe Calcium et
Microenvironnement des Cellules Souches (CMCS), Université de Poitiers, 86073 Poitiers Cedex 9, France.
3
INSERM U955 and Département de Physiologie, Hôpital Henri Mondor, AP-HP, Université Paris-Est Créteil (UPEC),
94010 Créteil, France; Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY 10029,
USA.
4
94010 Créteil, France.
5
Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
6
et Rythmicité Cardiaque (TIRC), Université de Poitiers, 86073 Poitiers Cedex 9, France. Electronic address:
[email protected].
23. Cell Mol Life Sci. 2016 Jan 23. [Epub ahead of print]
Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin
hemichannels that lead to apoptosis.
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3,4
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3,4
3
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Cea LA , Puebla C , Cisterna BA , Escamilla R , Vargas AA , Frank M , Martínez-Montero P , Prior C , Molano J ,
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5
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Esteban-Rodríguez I , Pascual I , Gallano P , Lorenzo G , Pian H , Barrio LC , Willecke K , Sáez JC
.
1
Present: Program of Anatomy and Developmental Biology, Institute of Biomedical Sciences, Faculty of Medicine,
University of Chile, Santiago, Chile. [email protected].
2
Departamento de Fisiología, Pontificia Universidad Católica de Chile, Av. Libertador Bernardo O'Higgins 340, Santiago,
Chile. [email protected].
3
Departamento de Fisiología, Pontificia Universidad Católica de Chile, Av. Libertador Bernardo O'Higgins 340, Santiago,
Chile.
4
Centro Interdisciplinario de Neurociencias de Valparaíso, Valparaíso, Chile.
5
Division of Molecular Genetics, Life and Medical Sciences Institute, University of Bonn, 53115, Bonn, Germany.
6
Unidad de Genética Molecular-INGEMM, Hospital Universitario La Paz-IdIPAZ, Madrid, Spain.
7
Servicio de Anatomía Patológica, Hospital Universitario La Paz-IdIPAZ, Madrid, Spain.
8
Servicio de Neuropediatría, Hospital Universitario La Paz-IdIPAZ, Madrid, Spain.
9
Servicio de Genética, Hospital Santa Creu i Sant Pablo-CIBERER, Barcelona, Spain.
10
Servicio de Pediatria, "Ramón y Cajal" Hospital-IRYCIS, Madrid, Spain.
11
Servicio de Anatomía Patológica, "Ramón y Cajal" Hospital-IRYCIS, Madrid, Spain.
12
Unidad de Neurología Experimental, "Ramón y Cajal" Hospital-IRYCIS, Madrid, Spain.
6
13
Departamento de Fisiología, Pontificia Universidad Católica de Chile, Av. Libertador Bernardo O'Higgins 340,
Santiago, Chile. [email protected].
14
Centro Interdisciplinario de Neurociencias de Valparaíso, Valparaíso, Chile. [email protected].
24. Neuromuscul Disord. 2016 Jan;26(1):5-6. doi: 10.1016/j.nmd.2015.12.001.
Duchenne muscular dystrophy: Ringo to the rescue?
1
2
Cohn RD , Dubowitz V .
Author information
1
Department of Pediatrics and Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Canada..
Electronic address: [email protected].
2
Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.. Electronic address:
[email protected].
Editorial
25. J Pathol. 2016 Jan 21. doi: 10.1002/path.4689. [Epub ahead of print]
Divergent impact of Toll-like receptor 2 deficiency on repair mechanisms in healthy muscle versus Duchenne
muscular dystrophy.
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1
1
1
1
1
Mojumdar K , Giordano C , Lemaire C , Liang F , Divangahi M , Qureshi ST , Petrof BJ .
1
Meakins-Christie Laboratories and Program for Translational Research in Respiratory Diseases, McGill University
Health Centre Research Institute, Montreal, Quebec, Canada.
Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An
Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study.
1,2
1
3
1
1
1
4
5
6
7
Hafner P , Bonati U , Erne B , Schmid M , Rubino D , Pohlman U , Peters T , Rutz E , Frank S , Neuhaus C , Deuster
8
9
9
10
2,3
11
1,2
S , Gloor M , Bieri O , Fischmann A , Sinnreich M , Gueven N , Fischer D .
1
Division of Neuropaediatrics, University of Basel Children's Hospital, Basel, Switzerland.
2
Department of Neurology, University of Basel Hospital, Basel, Switzerland.
3
Department of Biomedicine, University of Basel, Basel, Switzerland.
4
Interdisciplinary Center of Nutritional and Metabolic Diseases, St. Claraspital, Basel, Basel, Switzerland.
5
Paediatric Orthopaedic Department, University of Basel Children's Hospital, Basel, Switzerland.
6
Division of Neuropathology, Institute of Pathology, University of Basel Hospital, Basel, Switzerland.
7
Therapy Department, University of Basel Children's Hospital, Basel, Switzerland.
8
Hospital Pharmacy, University of Basel Hospital, Basel, Switzerland.
9
Department of Radiology, Division of Radiological Physics, University of Basel Hospital, Basel, Switzerland.
10
Division of Neuroradiology, University of Basel Hospital, Basel, Switzerland.
11
Pharmacy, School of Medicine, University of Tasmania, Hobart, TAS, Australia.
27. Skelet Muscle. 2016 Jan 21;6:2. doi: 10.1186/s13395-016-0077-7. eCollection 2015.
Decrease of myofiber branching via muscle-specific expression of the olfactory receptor mOR23 in dystrophic
muscle leads to protection against mechanical stress.
1
2
3
Pichavant C , Burkholder TJ , Pavlath GK .
1
Department of Pharmacology, Emory University, Atlanta, GA USA ; Present address: Department of Genetics, Stanford
University, Stanford, CA USA.
2
School of Applied Physiology, Georgia Institute of Technology, Atlanta, GA USA.
3
Department of Pharmacology, Emory University, Atlanta, GA USA ; 1510 Clifton Road, Room 5024, Atlanta, GA 30322
USA.
7
28. Nat Commun. 2016 Jan 22;7:10488. doi: 10.1038/ncomms10488.
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype.
1
1
1
1
2
1
2
1,3,4
Martone J , Briganti F , Legnini I , Morlando M , Picillo E , Sthandier O , Politano L , Bozzoni I .
1
Department of Biology and Biotechnology Charles Darwin, Sapienza University of Rome, P.le A. Moro 5, Rome 00185,
Italy.
2
Department of Experimental Medicine, Cardiomyology and Medical Genetics, Second University of Napoli, I Policlinico,
Piazza Miraglia, Napoli 80138, Italy.
3
Center for Life Nano Science@Sapienza, Istituto Italiano di Tecnologia, Viale Regina Elena 291, Rome 00161, Italy.
4
Institute Pasteur Fondazione Cenci-Bolognetti, Sapienza University of Rome, P.le A. Moro 5, Rome 00185, Italy.
29. J Cardiovasc Magn Reson. 2016 Jan 21;18(1):5. doi: 10.1186/s12968-016-0224-7.
Increased myocardial native T1 and extracellular volume in patients with Duchenne muscular dystrophy.
1
2
3
4
5
6
7
8
9
Soslow JH , Damon SM , Crum K , Lawson MA , Slaughter JC , Xu M , Arai AE , Sawyer DB , Parra DA , Damon
10,11,12
13
BM
, Markham LW .
1
Thomas P Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Monroe Carell Jr. Children's Hospital,
Vanderbilt University Medical Center, 2200 Children's Way Suite 5230, Doctors' Office Tower, Nashville, TN, 372329119, USA. [email protected].
2
Department of Electrical Engineering and Computer Sciences, Vanderbilt University, Nashville, TN, USA.
[email protected].
3
4
Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN,
USA. [email protected].
5
Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
[email protected].
6
Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA. [email protected].
7
National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.
[email protected].
8
Department of Cardiac Services, Maine Medical Center, Portland, ME, USA. [email protected].
9
10
Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
[email protected].
11
Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.
[email protected].
12
Department of Biomedical Engineering, Vanderbilt University, Nashville, TN, USA. [email protected].
13
30. Comput Struct Biotechnol J. 2015 Nov 26;14:20-7. doi: 10.1016/j.csbj.2015.11.002. eCollection 2016.
The biochemical and mass spectrometric profiling of the dystrophin complexome from skeletal muscle.
1
1
Murphy S , Ohlendieck K .
1
Department of Biology, Maynooth University, National University of Ireland, Maynooth, Co. Kildare, Ireland.
31. Cardiovasc Res. 2016 Jan 19. pii: cvw017. [Epub ahead of print]
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous
cardioprotective factor.
1
1
1
1
2
2
3
4
3
Lemckert FA , Bournazos A , Eckert DM , Kenzler M , Hawkes JM , Butler TL , Ceely B , North KN , Winlaw DS , Egan
3
4
JR , Cooper ST .
1
Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked
Bag 4001, Westmead 2145, AUSTRALIA.
2
Kid's Hearts Research, Heart Centre for Children, The Children's Hospital at Westmead, Locked Bag 4001, Westmead
2145, AUSTRALIA.
8
3
Kid's Hearts Research, Heart Centre for Children, The Children's Hospital at Westmead, Locked Bag 4001, Westmead
2145, AUSTRALIA Discipline of Paediatrics and Child Health, University of Sydney, Children's Hospital at Westmead
Clinical School, Locked Bag 4001, Westmead 2145, AUSTRALIA.
4
Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Locked
Bag 4001, Westmead 2145, AUSTRALIA Discipline of Paediatrics and Child Health, University of Sydney, Children's
Hospital at Westmead Clinical School, Locked Bag 4001, Westmead 2145, AUSTRALIA.
32. J Int Med Res. 2016 Jan 19. pii: 0300060515613223. [Epub ahead of print]
Distribution of dystrophin gene deletions in a Chinese population.
1
1
1
2
2
3
Li Y , Liu Z , OuYang S , Zhu Y , Wang L , Wu J .
1
Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
2
Department of Neurology, The Affiliated Children's Hospital, Capital Institute of Paediatrics, Beijing, China.
3
Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China [email protected].
33. Ann Clin Transl Neurol. 2015 Dec 8;3(1):55-60. doi: 10.1002/acn3.267. eCollection 2016.
RNAseq analysis for the diagnosis of muscular dystrophy.
1
2
3
3
4
5
5
6
2
Gonorazky H , Liang M , Cummings B , Lek M , Micallef J , Hawkins C , Basran R , Cohn R , Wilson MD , MacArthur
3
5
7
8
D , Marshall CR , Ray PN , Dowling JJ .
1
Division of NeurologyHospital for Sick ChildrenTorontoOntarioCanadaM5G A04; Program of Genetics and Genome
BiologyHospital for Sick ChildrenTorontoOntarioCanadaM5G A04; Department of PaediatricsUniversity of
TorontoTorontoOntarioCanadaM5G AO4.
2
Program of Genetics and Genome BiologyHospital for Sick ChildrenTorontoOntarioCanadaM5G A04; Department of
Molecular GeneticsUniversity of TorontoTorontoOntarioCanadaM5G AO4.
3
Analytic and Translational Genetics UnitMassachusetts General HospitalBostonMassachusetts02114; Program in
Medical and Population GeneticsBroad Institute of Harvard and MITCambridgeMassachusetts.
4
Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04.
5
Pediatric Laboratory Medicine Hospital for Sick Children Toronto Ontario Canada M5G A04.
6
PaediatricsUniversity of TorontoTorontoOntarioCanadaM5G AO4; Department of Molecular GeneticsUniversity of
7
Molecular GeneticsUniversity of TorontoTorontoOntarioCanadaM5G AO4; Pediatric Laboratory MedicineHospital for
Sick ChildrenTorontoOntarioCanadaM5G A04.
8
Division of NeurologyHospital for Sick ChildrenTorontoOntarioCanadaM5G A04; Program of Genetics and Genome
BiologyHospital for Sick ChildrenTorontoOntarioCanadaM5G A04; Department of PaediatricsUniversity of
TorontoTorontoOntarioCanadaM5G AO4; Department of Molecular GeneticsUniversity of
34. Nat Rev Neurol. 2016 Jan 18. doi: 10.1038/nrneurol.2016.4. [Epub ahead of print]
Neuromuscular disease: Genome editing shows promise in an in vivo model of Duchenne muscular dystrophy.
Wood H.
35. Adv Exp Med Biol. 2016;876:71-7. doi: 10.1007/978-1-4939-3023-4_9.
Differences in Contraction-Induced Hemodynamics and Surface EMG in Duchenne Muscular Dystrophy.
1
2,3
4,5
1
1
6
4,5
Van Ginderdeuren E , Caicedo A , Taelmans J , Goemans N , van den Hauwe M , Naulaers G , Van Huffel S ,
1
Buyse G .
1
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
2
Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing, and Data
Analytics, KU Leuven, Leuven, Belgium. [email protected].
3
iMinds Medical IT, Leuven, Belgium. [email protected].
4
Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing, and Data
Analytics, KU Leuven, Leuven, Belgium.
5
iMinds Medical IT, Leuven, Belgium.
6
Department of Neonatology, University Hospitals Leuven, Leuven, Belgium.
9
36. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S69-72. doi: 10.1016/S0929-693X(16)30012-4.
[Principles of multidisciplinary management of Duchenne muscular dystrophy].
[Article in French]
1
2
Chabrol B , Mayer M .
1
Centre de référence des maladies neuromusculaires de l'enfant, Hôpital d'Enfants, CHU Timone, 13385 Marseille
cedex 5. Electronic address: [email protected].
2
Centre de référence des maladies neuromusculaires de l'EST parisien, Hôpital Armand Trousseau, 26 avenue du Dr
Arnold Netter, 75571 Paris cedex 12.
[The basic concept of therapeutic approaches for DMD].
[Article in French]
1
Amthor H .
1
Université de Versailles Saint-Quentin-en-Yvelines, CHU Raymond Poincaré, Service de Pédiatrie, 92380 Garches, et
UMR S 1179 INSERM, 78180 Montigny-le-Bretonneux. Electronic address: [email protected].
[Central manifestations of dystrophinopathies].
[Article in French]
1
2
Cuisset JM , Rivier F .
1
Service de Neuropédiatrie, Centre de Référence des Maladies Neuromusculaires, CHRU, 59307 Lille cedex, France.
2
CHRU de Montpellier, Neuropédiatrie & Centre de Référence des Maladies Neuromusculaires, Montpellier, France;
U1046 INSERM, UMR9214 CNRS, Université de Montpellier, France. Electronic address: [email protected].
[Respiratory and intensive care aspects of muscular dystrophies].
[Article in French]
1
1
1
2
Ambrosi X , Lamothe L , Heming N , Orlikowski D .
1
Service de réanimation, unité de ventilation à domicile, hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré,
92380 APHP, Garches, France.
2
92380 APHP, Garches, France; Centre d'investigation clinique Inserm 1429, hôpital Raymond Poincaré, 104 boulevard
Raymond Poincaré, 92380 APHP, Garches, France. Electronic address: [email protected].
[Functional and orthopaedic aspects of dystrophinopathies].
[Article in French]
1
2
Boulay C , Finidori G .
1
Service de neurologie pédiatrique, Centre de Référence des maladies neuromusculaires de l'enfant, CHU Timone
Enfants, 13385 Marseille cedex5; Service de chirurgie orthopédique pédiatrique, CHU Timone Enfants, 13385 Marseille
cedex5. Electronic address: [email protected].
2
Service de chirurgie orthopédique pédiatrique, CHU Necker-enfants malades, 75015 Paris.
[Cardiac involvement in dystrophinopathies].
[Article in French]
1
Wahbi K .
1
AP-HP, Cochin Hospital, Department of Cardiolog, France Paris Descartes University, Paris, France. Electronic
address: [email protected].
10
42. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S3-12S11. doi: 10.1016/S0929-693X(16)30002-1.
[Genetics and molecular aspects of dystrophinopathies].
[Article in French]
1
2
Leturcq F , Tuffery-Giraud S .
1
Laboratoire de biochimie et génétique, moléculaire, Hôpital Cochin et Institut de Myologie, Groupe hospitalier La Pitié
Salpétrière, APHP, France.
2
Laboratoire de Génétique de Maladies Rares, Université de Montpellier, IURC, 641 av du Doyen G. Giraud, 34093
Montpellier cedex 5, France. Electronic address: [email protected].
[Diagnosis and natural history of Duchenne muscular dystrophy].
[Article in French]
1
2
Desguerre I , Laugel V .
1
Centre de référence Maladies neuromusculaires GNMH, Filière FILNEMUS, Hôpital Necker Enfants Malades, 149 rue
de Sèvres, 75015 Paris, France. Electronic address: [email protected].
2
Unité de neuropématrie, CHU Strasbourg, France.
[Duchenne muscular dystrophy pathophysiology].
[Article in French]
1
2
2
Péréon Y , Mercier S , Magot A .
1
Centre de Référence des Maladies Neuromusculaires Nantes-Angers, Hôtel-Dieu, 44093 Nantes cedex, France.
2
Centre de Référence des Maladies Neuromusculaires Nantes-Angers, Hôtel-Dieu, 44093 Nantes cedex, France.
[Genetic counseling in dystrophinopathies].
[Article in French]
1
Coubes C .
1
Centre de Référence « Anomalies du développement et syndromes malformatifs », Département de génétique
médicale, CHU Arnaud de Villeneuve, 371, avenue du doyen Gaston-Giraud, 34295 Montpellier cedex 5, France.
46. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S1-2. doi: 10.1016/S0929-693X(16)30001-X.
[Muscular dystrophies: From Duchenne to Becker].
[Article in French]
1
2
Chabrol B , Desguerre I .
1
Centre de référence des maladies neuromusculaires de l'Enfant, Hôpital d'Enfants, CHU Timone, 13385 Marseille
cedex 5. Electronic address: [email protected].
2
Centre de référence des maladies neuromusculaires de l'Enfant, Hôpital Necker, rue de Svres, 75015 Paris.
47. Neuropsychiatr Dis Treat. 2015 Dec 30;12:41-8. doi: 10.2147/NDT.S87735. eCollection 2016.
Computer task performance by subjects with Duchenne muscular dystrophy.
1
2
2
1
3
4
5
Malheiros SR , da Silva TD , Favero FM , de Abreu LC , Fregni F , Ribeiro DC , de Mello Monteiro CB .
1
School of Medicine of ABC, Santo Andre, Brazil.
2
Department of Medicine, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil.
3
Center for Neurosciences, University of São Paulo, São Paulo, Brazil.
4
Post-graduate Program in Rehabilitation Sciences, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
5
School of Medicine of ABC, Santo Andre, Brazil; Post-graduate Program in Rehabilitation Sciences, Faculty of
Medicine, University of São Paulo, São Paulo, Brazil; School of Arts, Sciences and Humanities, University of São Paulo,
São Paulo, Brazil.
11
48. Mol Ther. 2016 Jan 14. doi: 10.1038/mt.2016.5. [Epub ahead of print]
Current progress in therapeutic gene editing for monogenic diseases.
1
1
1
Prakash V , Moore M , Yáñez-Muñoz RJ .
1
School of Biological Sciences, Royal Holloway, University of London, Egham TW20 0EX, UK.
49. Nucleic Acids Res. 2016 Jan 13. pii: gkv1540. [Epub ahead of print]
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin
synthesis in DMD muscle cell populations.
1
2
1
1
1
3
4
Maggio I , Stefanucci L , Janssen JM , Liu J , Chen X , Mouly V , Gonçalves MA .
1
Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, Einthovenweg 20, 2333 ZC Leiden,
The Netherlands.
2
The Netherlands Facoltà di Scienze Matematiche Fisiche e Naturali, Universitá di Roma Tor Vergata, Rome, Italy.
3
Center for Research in Myology, UMRS 974 UPMC-INSERM, FRE 3617 CNRS, Paris, France.
4
The Netherlands [email protected].
[Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular
Dystrophy].
[Article in French]
1
2
2
Magot A , Mercier S , Péréon Y .
1
Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Nantes. Electronic address: [email protected].
2
Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Nantes.
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy
(FSHD)
Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle
Differentiation.
1
2
1
1
1
1
2
3
1
1
1
Ansseau E , Eidahl JO , Lancelot C , Tassin A , Matteotti C , Yip C , Liu J , Leroy B , Hubeau C , Gerbaux C , Cloet S ,
1
1
4
5
6
3
2,7
1
1
Wauters A , Zorbo S , Meyer P , Pirson I , Laoudj-Chenivesse D , Wattiez R , Harper SQ , Belayew A , Coppée F .
1
Laboratory of Molecular Biology, Research Institute for Health Sciences and Technology, University of Mons, Mons,
Belgium.
2
Center for Gene Therapy, Research Institute at Nationwide Children's Hospital, Columbus, OH, United States of
America.
3
Laboratory of Proteomic and Microbiology, Research Institute for Biosciences, University of Mons, Mons, Belgium.
4
Pediatric Department, CHRU Montpellier, Montpellier, France.
5
I.R.I.B.H.M., Free University of Brussels, Brussels, Belgium.
6
Laboratory of Physiology and Experimental Medicine, INSERM U1046, Montpellier, France.
7
Department of Pediatrics, Ohio State University College of Medicine, Columbus, OH, United States of America.
52. Hum Mol Genet. 2016 Jan 19. pii: ddw015. [Epub ahead of print]
Antisense targeting of 3'end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy
for Facioscapulohumeral Dystrophy: a new gene silencing approach.
1
2
1
2
3
2
4
Marsollier AC , Ciszewski L , Mariot V , Popplewell L , Voit T , Dickson G , Dumonceaux J .
1
Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie (CRM), GH Pitié
Salpêtrière, 47 bld de l'hôpital, Paris 13, France.
2
Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, Surrey, TW20 0EX
UK.
3
Salpêtrière, 47 bld de l'hôpital, Paris 13, France Present Address: NIHR Biomedical Research Centre, Institute of Child
Health, University College London, 30 Guilford Street, London WC1N1EH, UK.
4
Salpêtrière, 47 bld de l'hôpital, Paris 13, France [email protected].
12
Dystrophies myotoniques - Myotonic dystrophies
53. Graefes Arch Clin Exp Ophthalmol. 2016 Jan 27. [Epub ahead of print]
Ocular Findings of Myotonic Dystrophy Type 1 in the Korean Population.
1
1
2
3
Choi SH , Yang HK , Hwang JM , Park KS .
1
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang
Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 463-707, Korea.
2
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang
Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 463-707, Korea. [email protected].
3
Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital,
Seongnam, Korea.
54. Muscle Nerve. 2016 Jan 20. doi: 10.1002/mus.25025. [Epub ahead of print]
In vivo assessment of muscle membrane properties in myotonic dystrophy.
1,2,3
4
4
1,2
1,2
1,2,4
Tan SV , Z'Graggen WJ , Boërio D , Turner C , Hanna MG , Bostock H .
1
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, The National, Queen Square, London, UK.
2
Institute of Neurology, University College London, Queen Square, London, UK.
3
Department of Neurology and Neurophysiology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust and
Department of Academic Neurosciences, Kings College London, UK.
4
Departments of Neurosurgery and Neurology, Inselspital, Bern University Hospital and University of Bern, Switzerland.
55. Case Rep Cardiol. 2015;2015:151269. doi: 10.1155/2015/151269. Epub 2015 Dec 15.
Rare Cause of Wide QRS Tachycardia.
1
1
2
3
1
Mironov NY , Mironova NA , Saidova MA , Stukalova OV , Golitsyn SP .
1
Department of Clinical Electrophysiology, Russian Cardiology Research Center, Russia.
2
Department of Sonography, Russian Cardiology Research Center, Russia.
3
Department of Tomography, Russian Cardiology Research Center, Russia.
56. Ann Clin Transl Neurol. 2015 Dec 10;3(1):42-54. doi: 10.1002/acn3.271. eCollection 2016.
Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.
1
2
1
2
1
Nakamori M , Taylor K , Mochizuki H , Sobczak K , Takahashi MP .
1
Department of Neurology Osaka University Graduate School of Medicine Osaka Japan.
2
Department of Gene Expression Institute of Molecular Biology and Biotechnology Adam Mickiewicz University Posnan
Poland.
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva
57. Cytokine Growth Factor Rev. 2015 Dec 28. pii: S1359-6101(15)00091-X. doi: 10.1016/j.cytogfr.2015.12.007.
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Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal
and neural orphan disorders.
1
2
Pacifici M , Shore EM .
1
Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of
Philadelphia, Philadelphia, PA 19104, United States. Electronic address: [email protected].
2
Departments of Orthopaedic Surgery and Genetics, and the Center for Research in FOP and Related Disorders,
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 United States. Electronic address:
[email protected].
58. Bone. 2016 Jan 6;84:169-180. doi: 10.1016/j.bone.2016.01.004. [Epub ahead of print]
Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva
fibroblasts in a novel in vitro model of the disease.
1
2
3
4
5
6
7
Micha D , Voermans E , Eekhoff ME , van Essen HW , Zandieh-Doulabi B , Netelenbos C , Rustemeyer T , Sistermans
8
9
10
EA , Pals G , Bravenboer N .
13
1
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:
[email protected].
2
[email protected].
3
Internal Medicine, Endocrinology Section, VU University Medical Center, Amsterdam, The Netherlands. Electronic
4
Department of Clinical Chemistry, VU University Medical Center, MOVE Research Institute, Amsterdam, The
Netherlands. Electronic address: [email protected].
5
Department of Oral Cell Biology, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam and VU
University, MOVE Research Institute, Amsterdam, The Netherlands. Electronic address: [email protected].
6
Internal Medicine, Endocrinology Section, VU University Medical Center, Amsterdam, The Netherlands. Electronic
7
Department of Dermatology, VU University Medical Centre, Amsterdam, The Netherlands. Electronic address:
[email protected].
8
[email protected].
9
[email protected].
10
Department of Clinical Chemistry, VU University Medical Center, MOVE Research Institute, Amsterdam, The
Netherlands. Electronic address: [email protected].
Laminopathies - Laminopathies
59. Methods Enzymol. 2016;568:557-80. doi: 10.1016/bs.mie.2015.07.028. Epub 2015 Oct 24.
Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin
A/C Gene Mutations.
1
2
Muchir A , Worman HJ .
1
Center of Research in Myology, UPMC-Inserm UMR974, CNRS FRE3617, Institut de Myologie, G.H. Pitie Salpetriere,
Paris Cedex, France.
2
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, USA; Department of
Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, USA. Electronic
60. Methods Enzymol. 2016;569:485-501. doi: 10.1016/bs.mie.2015.08.032. Epub 2015 Sep 9.
Pathologically Relevant Prelamin A Interactions with Transcription Factors.
1
2
Infante A , Rodríguez CI .
1
Stem Cells and Cell Therapy Laboratory, BioCruces Health Research Institute, Cruces University Hospital, Barakaldo,
Spain.
2
Stem Cells and Cell Therapy Laboratory, BioCruces Health Research Institute, Cruces University Hospital, Barakaldo,
Spain. Electronic address: [email protected].
Maladie de Pompe – Pompe’s disease
61. Neurology. 2016 Jan 26;86(4):401. doi: 10.1212/WNL.0000000000002321.
Bright tongue sign in Pompe disease.
1
Karam C .
1
From The University of North Carolina at Chapel Hill. Dr. Karam is currently with the Oregon Health & Science
University, Portland. [email protected].
62. J Pediatr. 2016 Feb;169:1-3. doi: 10.1016/j.jpeds.2015.11.065.
Timing of treatment for Pompe disease.
Daniels SR.
14
63. Orphanet J Rare Dis. 2016 Jan 25;11(1):8. doi: 10.1186/s13023-016-0390-6.
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
1
2
2
2
2
3
2
4
5
Lévesque S , Auray-Blais C , Gravel E , Boutin M , Dempsey-Nunez L , Jacques PE , Chenier S , Larue S , Rioux MF ,
6
7
8
2
2
2
9
10
10
Al-Hertani W , Nadeau A , Mathieu J , Maranda B , Désilets V , Waters PJ , Keutzer J , Austin S , Kishnani P .
1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de
Sherbrooke, and Centre Hospitalier Universitaire de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4,
Canada. [email protected].
2
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de
Sherbrooke, and Centre Hospitalier Universitaire de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4,
Canada.
3
Departments of Biology and Computer Science, Faculty of Sciences, Université de Sherbrooke, Sherbrooke, QC,
Canada.
4
Department of Neurology, Notre-Dame Hospital, Université de Montréal, Montreal, QC, Canada.
5
Department of Neurology, Université de Sherbrooke, and Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke,
QC, Canada.
6
Department of Pediatrics, Cumming School of Medicine, University of Calgary, and Alberta Children's Hospital, Calgary,
AB, Canada.
7
Department of Pediatrics, Division of Pediatric Neurology, Université de Sherbrooke, and Centre Hospitalier
Universitaire de Sherbrooke, Sherbrooke, QC, Canada.
8
Neuromuscular Clinic, Centre de réadaptation en déficience physique de Jonquière, Saguenay, QC, Canada.
9
Genzyme Corporation, a Sanofi Company, Cambridge, MA, USA.
10
Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Next generation sequencing detection of late onset Pompe disease.
1
2,3
4
2,3
Angelini C , Savarese M , Fanin M , Nigro V .
1
Fondazione San Camillo Hospital IRCCS, Venice.
2
Department of Biochemistry, Biophysics and General Pathology, II, University of Naples.
3
Telethon Institute of Genetics and Medicine, Naples.
4
Department of Neurosciences, University of Padova, Italy.
65. Neuromuscul Disord. 2015 Nov 30. pii: S0960-8966(15)00797-X. doi: 10.1016/j.nmd.2015.11.009. [Epub ahead
of print]
Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced
vital capacity) predict ventilator use in late-onset Pompe disease.
1
2
3
4
5
6
Johnson EM , Roberts M , Mozaffar T , Young P , Quartel A , Berger KI .
Author information
1
BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: [email protected].
2
Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK.
3
Department of Neurology, University of California, Irvine, CA, USA.
4
Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Münster, Germany.
5
BioMarin Pharmaceutical Inc., Novato, CA, USA.
6
Departments of Medicine, Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA.
66. Circ Cardiovasc Genet. 2016 Jan 19. pii: CIRCGENETICS.115.001322. [Epub ahead of print]
Elevated Plasma Cardiac Troponin T Levels due to Skeletal Muscle Damage in Pompe Disease.
1
2
3
4
2
2
2
5
Wens SC , Schaaf GJ , Michels M , Kruijshaar ME , van Gestel TJ , In 't Groen S , Pijnenburg J , Dekkers DH ,
5
6
1
7
8
1
9
Demmers JA , Verdijk LB , Brusse E , van Schaik RH , van der Ploeg AT , van Doorn PA , Pijnappel WW .
1
Department of Neurology & Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, the Netherlands.
2
Center for Lysosomal and Metabolic Diseases, Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus
MC, Rotterdam & Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC-Sophia,
Rotterdam, the Netherlands.
3
Department of Cardiology, Erasmus MC, Rotterdam, the Netherlands.
4
Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, the Netherlands.
5
Proteomics Center, Erasmus MC, Rotterdam & Netherlands Proteomics Center, Rotterdam, the Netherlands.
6
NUTRIM School for Nutrition, Toxicology & Metabolism, Maastricht University Medical Center, Maastricht, the
Netherlands.
7
Department of Clinical Chemistry, Erasmus MC, Rotterdam, the Netherlands.
15
8
Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam & Department of Pediatrics, Division of
Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, the Netherlands.
9
Center for Lysosomal and Metabolic Diseases, Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus
MC, Rotterdam & Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC-Sophia,
Rotterdam, the Netherlands [email protected].
67. J Inherit Metab Dis. 2016 Jan 14. [Epub ahead of print]
Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile
Pompe disease: an open-label single-center study.
1
1
1
2
1,3
2
4
van Gelder CM , Poelman E , Plug I , Hoogeveen-Westerveld M , van der Beek NA , Reuser AJ , van der Ploeg AT .
1
Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases,
Erasmus MC University Medical Center, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands.
2
Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical
Center, Rotterdam, The Netherlands.
3
Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center,
Rotterdam, The Netherlands.
4
Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases,
Erasmus MC University Medical Center, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands.
[email protected].
Myasthénie autoimmune– Myasthenia Gravis
68. J Neurol. 2016 Jan 25. [Epub ahead of print]
Thymic pathologies in myasthenia gravis: a preoperative assessment of CAT scan and nuclear based imaging.
1
2
3
4
5
2
Jordan B , Kellner J , Jordan K , Bähre M , Behrmann C , Zierz S .
1
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097, Halle/Saale,
Germany. [email protected].
2
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097, Halle/Saale,
Germany.
3
Department of Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097,
Halle/Saale, Germany.
4
Department of Nuclear Medicine, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097,
Halle/Saale, Germany.
5
Department of Radiology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097, Halle/Saale,
Germany.
69. Ann Plast Surg. 2016 Jan 21. [Epub ahead of print]
Surgical Correction of the Intractable Blepharoptosis in Patients With Ocular Myasthenia Gravis.
1
Lai CS , Lai YW, Huang SH, Lee SS, Chang KP, Chen AD.
1
From the *Division of Plastic Surgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung,
Taiwan, Republic of China; †School of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan, Republic of China.
Remission and relapse of myasthenia gravis on long-term azathioprine: An ambispective study.
1
1
1
1
1
Gupta A , Goyal V , Srivastava AK , Shukla G , Behari M .
1
Department of Neurology, Cardiothoracic and Neurosciences Centre, All India Institute of Medical Sciences, New Delhi,
110029, India.
Myasthenia gravis exacerbation associated with pembrolizumab.
1
1
Zhu J , Li Y .
1
Neuromuscular Center, Department of Neurology, Cleveland Clinic, Cleveland, USA.
16
A new test for ocular myasthenia gravis? OMG!
1
2
Prasad S , Halmagyi GM .
1
From Brigham and Women's Hospital (S.P.), Harvard Medical School, Boston, MA; and Royal Prince Alfred Hospital
(G.M.H.), University of Sydney, Australia. [email protected].
2
From Brigham and Women's Hospital (S.P.), Harvard Medical School, Boston, MA; and Royal Prince Alfred Hospital
(G.M.H.), University of Sydney, Australia.
Ocular vestibular evoked myogenic potentials as a test for myasthenia gravis.
1
1
1
1
1
2
Valko Y , Rosengren SM , Jung HH , Straumann D , Landau K , Weber KP .
1
From the Departments of Ophthalmology (Y.V., K.L., K.P.W.) and Neurology (Y.V., H.H.J., D.S., K.P.W.), University
Hospital Zurich, University of Zurich, Switzerland; Department of Neurology (S.M.R.), Royal Prince Alfred Hospital,
Sydney; and the Central Clinical School (S.M.R.), University of Sydney, Australia.
2
From the Departments of Ophthalmology (Y.V., K.L., K.P.W.) and Neurology (Y.V., H.H.J., D.S., K.P.W.), University
Hospital Zurich, University of Zurich, Switzerland; Department of Neurology (S.M.R.), Royal Prince Alfred Hospital,
Sydney; and the Central Clinical School (S.M.R.), University of Sydney, Australia. [email protected].
Prior damage to lower motor neuron triggering myasthenia gravis.
1
1
1
1
Steiner I , Goldstein L , Hellmann MA , Lotan I .
1
Department of Neurology, Rabin Medical Center, Beilinson Campus, Petach Tikva; Sackler Faculty of Medicine, Tel
Aviv University, Tel Aviv, Israel.
75. Rev Esp Enferm Dig. 2016 Jan 20. doi: 10.17235/reed.2016.3929/2015. [Epub ahead of print]
Rare association of celiac disease with myasthenia gravis in a patient with other immune disorders: A case
report.
1
2
2
3
2
2
de Almeida Menezes M , Ribeiro Cabral VL , Lorena SS , Nucci A , Andrade Santana P , Queiroz Silva C .
1
Internal Medicine Department, State University of Campinas (UNICAMP), Brazil.
2
Department of Internal Medicine, State University of Campinas, Brazil.
3
Department of Neurology, State University of Campinas, Brazil.
76. Case Rep Crit Care. 2015;2015:624718. doi: 10.1155/2015/624718. Epub 2015 Dec 10.
Myasthenic Crisis in an Elderly Patient with Positive Antibodies against Acetylcholine and Anti-MuSK,
Successfully Treated with Noninvasive Mechanical Ventilation.
1
1
1
1
1
Fernández JA , Fernández-Valiñas A , Hernández D , Orozco J , Lugo A .
1
Hospital Ángeles Clínica Londres, Durango No. 50, Roma Norte, Cuauhtémoc, 06700 Ciudad de México, DF, Mexico.
77. J Clin Neurosci. 2016 Jan 5. pii: S0967-5868(15)00626-8. doi: 10.1016/j.jocn.2015.08.041. [Epub ahead of
print]
Myopathic changes detected by quantitative electromyography in patients with MuSK and AChR positive
myasthenia gravis.
1
2
2
2
3
2
Nikolic A , Basta I , Stojanovic VR , Stevic Z , Peric S , Lavrnic D .
1
Neurology Clinic, Department for Neuromuscular Disorders, Clinical Center of Serbia, Dr Subotica 6, 11000 Belgrade,
Serbia; Medical Faculty, Belgrade University, Belgrade, Serbia. Electronic address: [email protected].
2
Serbia; Medical Faculty, Belgrade University, Belgrade, Serbia.
3
Serbia.
78. J Prosthet Dent. 2016 Jan 13. pii: S0022-3913(15)00677-0. doi: 10.1016/j.prosdent.2015.11.014. [Epub ahead
of print]
Application of digital technology in the prosthodontic management of a patient with myasthenia gravis.
17
1
2
3
4
AlHelal A , Jekki R , Richardson PM , Kattadiyil MT .
1
Graduate student, Advanced Specialty Education Program in Prosthodontics, School of Dentistry, Loma Linda
University, Loma Linda, Calif; and Department of Prosthetic Dental Sciences, College of Dentistry, King Saud University,
Riyadh, Saudi Arabia. Electronic address: [email protected].
2
Assistant Professor, Advanced Specialty Education Program in Prosthodontics, School of Dentistry, Loma Linda
University, Loma Linda, Calif.
3
Certified Dental Technician, School of Dentistry, Loma Linda University, Loma Linda, Calif.
4
Professor and Program Director, Advanced Specialty Education Program in Prosthodontics, School of Dentistry, Loma
Linda University, Loma Linda, Calif.
79. Clin Radiol. 2016 Jan 7. pii: S0009-9260(15)00494-8. doi: 10.1016/j.crad.2015.12.009. [Epub ahead of print]
Comparison of CT and chemical-shift MRI for differentiating thymoma from non-thymomatous conditions in
myasthenia gravis: value of qualitative and quantitative assessment.
1
2
2
3
4
2
Priola AM , Priola SM , Gned D , Giraudo MT , Fornari A , Veltri A .
1
Department of Diagnostic Imaging, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano,
Torino, Italy. Electronic address: [email protected].
2
Department of Diagnostic Imaging, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano,
Torino, Italy.
3
Department of Mathematics "Giuseppe Peano", University of Torino, Via Carlo Alberto 10, 10123, Torino, Italy.
4
Department of Pathology, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano, Torino,
Italy.
80. Oncotarget. 2016 Jan 11. doi: 10.18632/oncotarget.6885. [Epub ahead of print]
Novel CXCL13 transgenic mouse: inflammation drives pathogenic effect of CXCL13 in experimental myasthenia
gravis.
1,2,3,4
1,2,3,4
5
1,2,3,4
1,2,3,4
5
5
5
6
Weiss JM
, Robinet M
, Aricha R , Cufi P
, Villeret B
, Lantner F , Shachar I , Fuchs S , Souroujon MC ,
1,2,3,4
1,2,3,4
Berrih-Aknin S
, Le Panse R
.
1
INSERM U974, Paris, France.
2
CNRS FRE3617, Paris, France.
3
Sorbonne Universités, UPMC University Paris 06, Paris, France.
4
AIM, Institut de Myologie, Paris, France.
5
Department of Immunology, Weizmann Institute of Science, Rehovot, Israel.
6
Open University of Israel, Raanana, Israel.
81. Case Rep Neurol Med. 2015;2015:242691. doi: 10.1155/2015/242691. Epub 2015 Dec 3.
The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis.
1
1
1
Magnussen M , Karakis I , Harrison TB .
1
Department of Neurology, Emory University, Atlanta, GA 30329, USA.
82. Int J Clin Exp Med. 2015 Oct 15;8(10):19424-9. eCollection 2015.
Determination of the normative values of the masseter muscle by single-fiber electromyography in myasthenia
gravis patients.
1
1
1
1
2
1
1
2
Shi L , Liu HF , Zhang M , Guo YP , Song B , Song CD , Song DD , Xu YM .
1
Department of Neurology, The Fifth Affiliated Hospital of Zhengzhou University Zhengzhou 450000, Henan, China.
2
Department of Neurology, The First Affiliated Hospital of Zhengzhou University Zhengzhou 450000, Henan, China.
83. Int J Clin Exp Med. 2015 Oct 15;8(10):19044-50. eCollection 2015.
Effects of combined traditional Chinese medicine with immunosuppressive agents for patients with myasthenia
gravis.
1
1
1
1
1
Qi G , Gu S , Liu P , Yang H , Dong H .
1
First Hospital of Shijiazhuang, Center of Treatment of Myasthenia Gravis Hebei Province, China.
18
Myopathies congénitales – Congenital Myopathies
Adult-Onset Respiratory Insufficiency, Scoliosis, and Distal Joint Hyperlaxity in Patients with Multiminicore
Disease due to Novel MEGF10 Mutations.
1,2
2
3
2
2
3
Liewluck T , Milone M , Tian X , Engel AG , Staff NP , Wong LJ .
1
Department of Neurology, University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B-185,
12631 East 17th Avenue, Aurora, Colorado, 80045, USA.
2
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
3
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston,
Texas, 77030, USA.
Next generation sequencing reveals RYR1 mutations in a Chinese central core disease cohort.
1
1
1
1
1
1
Zhao Y , Hu J , Zhao Z , Shen H , Bing Q , Li N .
1
Department of Neuromuscular Disease, Third Hospital of Hebei Medical University, 139# Ziqiang Road, Shijiazhuang
City, Hebei Province, 050051, PR, China.
86. Neuromuscul Disord. 2015 Dec 4. pii: S0960-8966(15)00771-3. doi: 10.1016/j.nmd.2015.11.002. [Epub ahead
of print]
Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are
allelic conditions caused by mutations in CHKB.
1
2
3
2
4
Brady L , Giri M , Provias J , Hoffman E , Tarnopolsky M .
1
Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5,
Canada.
2
Children's National Medical Center, Research Center for Genetic Medicine, 111 Michigan Ave, Washington D.C. 20010,
USA.
3
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
4
Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5,
Canada. Electronic address: [email protected].
87. J Paediatr Child Health. 2016 Jan;52(1):7-10. doi: 10.1111/jpc.13065.
Use of guidelines when planning home care of a girl with severe congenital myopathy.
1
2,3
2,3
4
5,3
Gray K , Isaacs D , Kilham H , Tobin B , Waters K .
1
Long-Stay Ventilation Team, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
2
Department of Clinical Bioethics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
3
Discipline of Child Health, University of Sydney, Sydney, New South Wales, Australia.
4
Plunkett Centre for Ethics in Health Care, St Vincent's Hospital Sydney and Australian Catholic University, Darlinghurst,
New South Wales, Australia.
Myopathies inflammatoires - Inflammatory myopathies
88. Arthritis Rheumatol. 2016 Jan 27. doi: 10.1002/art.39592. [Epub ahead of print]
Interferon-gamma but not interleukin-4 restrains experimental polymyositis.
1
1
1
1
1,2
Yoshihashi-Nakazato Y , Kawahata K , Kimura N , Miyasaka N , Kohsaka H .
1
Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
(TMDU), TMDU, Tokyo, Japan.
2
Research Center for Allergy and Immunology, RIKEN Yokohama Institute, TMDU, Tokyo, Japan.
19
89. Am J Pathol. 2016 Jan 21. pii: S0002-9440(16)00005-5. doi: 10.1016/j.ajpath.2015.11.010. [Epub ahead of
print]
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Protein 5 Antibodies: Common
Interferon Signature but Distinct NOS2 Expression.
1
2
3
4
3
5
2
6
4
7
Allenbach Y , Leroux G , Calvet XS , Preusse C , Gallardo E , Hervier B , Rigolet A , Hie M , Pehl D , Limal N , Hufnagl
8
8
9
10
11
12
4
5
4
P , Zerbe N , Meyer A , Aouizerate J , Uzunhan Y , Maisonobe T , Goebel HH , Benveniste O , Stenzel W ; French
Myositis Network.
1
Department of Neuropathology, Charité-Universitätsmedizin, Berlin, Germany; Departments of Internal Medicine and
Clinical Immunology and Inflammation, Immunopathology, and Biotherapy, Pitié-Salpêtrière University Hospital,
Assistance Publique-Hôpitaux de Paris, Sorbonne Universities, Pierre et Marie Curie University, Paris 6, France;
Sorbonne Universities, University Pierre et Marie-Curie, Paris 6, Inserm U974, Paris, France. Electronic address:
[email protected].
2
Departments of Internal Medicine and Clinical Immunology and Inflammation, Immunopathology, and Biotherapy, PitiéSalpêtrière University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Universities, Pierre et Marie Curie
University, Paris 6, France.
3
Neuromuscular Diseases Unit, Neurology, Hospital de la Santa Creu I Sant Pau, Universita Autonoma de Barcelona
and Institute de Recerca Sant Pau, Barcelona, Spain.
4
Department of Neuropathology, Charité-Universitätsmedizin, Berlin, Germany.
5
Departments of Internal Medicine and Clinical Immunology and Inflammation, Immunopathology, and Biotherapy, PitiéSalpêtrière University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Universities, Pierre et Marie Curie
University, Paris 6, France; Sorbonne Universities, University Pierre et Marie-Curie, Paris 6, Inserm U974, Paris, France.
6
Department of Internal Medicine 2, Institut E3M, Pitié-Salpêtrière University Hospital, Assistance Publique-Hôpitaux de
Paris, Sorbonne Universities, Pierre et Marie Curie University, Paris 6, France.
7
Department of Internal Medicine, Assistance Publique-Hôpitaux de Paris, Mondor Hospital, Creteil, France.
8
Department of Pathology, Charité-Universitätsmedizin, Berlin, Germany.
9
Department of Physiology, Strasbourg University Hospital, Strasbourg, France.
10
Department of Pathology, Mondor Hospital, Creteil, France.
11
Department of Pneumology Avicennes University Hospital, Bobigny, France.
12
Department of Pathology, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France.
A protocol to develop clinical guidelines for inclusion body myositis.
1
2
3
4
5
6
7
1
Jones KL , Sejersen T , Amato AA , Hilton-Jones D , Schmidt J , Wallace AC , Badrising UA , Rose MR ; “The IBM
Guideline Development Group”.
1
Department of Neurology, King's College Hospital NHS Foundation Trust, London, UK.
2
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
3
Department of Neurology, Brigham and Women's Hospital, Boston, USA.
4
Department of Neurology, John Radcliffe Hospital, Oxford, UK.
5
University Medical Center Gӧttingen, Gӧttingen, Germany.
6
MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK.
7
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
91. Rev Med Chir Soc Med Nat Iasi. 2015 Oct-Dec;119(4):1055-9.
A CASE OF POLYMYOSITIS WITH INTERSTITIAL LUNG DISEASE ONSET.
Enache A, Bădulescu M, Burlui A, Cardoneanu A, Stamate IG, Mihăescu T, Rezuş E.
92. Med J Islam Repub Iran. 2015 Jul 11;29:233. eCollection 2015.
Association of nailfold capillary changes with disease activity, clinical and laboratory findings in patients with
dermatomyositis.
1
2
Shenavandeh S , Zarei Nezhad M .
1
MD, Assistant Professor, Department of Rheumatology, Shiraz Medical School, Shiraz University of Medical Sciences,
Namazee Hospital Shiraz, Iran. [email protected].
2
MD, Rheumatology Fellow, Rheumatology Department, Namazee Hospital, Shiraz, Iran.
[email protected].
93. Arch Med Sci. 2015 Dec 10;11(6):1272-8. doi: 10.5114/aoms.2015.52883. Epub 2015 Dec 11.
A new modified animal model of myosin-induced experimental autoimmune myositis enhanced by defibrase.
1
2
3
2
2
Wen-Jing L , Chuan-Qiang P , Hong-Hua L , Xiang-Hui L , Jie-Xiao L .
20
1
Department of Neurology, Chinese PLA General Hospital, Beijing, China; Department of Neurology, Chinese PLA
Wuhan General Hospital of Guangzhou Military Command, Wuhan, China.
2
Department of Neurology, Chinese PLA General Hospital, Beijing, China.
3
Department of Neurology, Chinese PLA Wuhan General Hospital of Guangzhou Military Command, Wuhan, China.
94. BMJ Case Rep. 2016 Jan 19;2016. pii: bcr2015212387. doi: 10.1136/bcr-2015-212387.
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma.
1
2
2
George MD , Lahouti AH , Christopher-Stine L .
1
University of Pennsylvania, Philadelphia, Pennsylvania, USA.
2
Johns Hopkins University, Baltimore, Maryland, USA.
95. Ophthal Plast Reconstr Surg. 2016 Jan 18. [Epub ahead of print]
Lagophthalmos and Ptosis in Inclusion Body Myositis.
1
Shams F , Cauchi P.
1
Gartnavel General Hospital, Glasgow, United Kingdom.
96. Z Rheumatol. 2016 Jan 18. [Epub ahead of print]
Immune-mediated necrotizing myopathy.
1,2
1,2
3
1,2,4
1,4
5
6,7,8
Bergua C , Chiavelli H , Simon JP , Boyer O , Jouen F , Stenzel W , Martinet J .
1
Normandie University, IRIB, Rouen, France.
2
INSERM, U905, Rouen, France.
3
Department of Neuropathology, Caen University Hospital, Caen, France.
4
Department of Immunology, Rouen University Hospital, 22 bd Gambetta, 76000, Rouen, France.
5
Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany.
6
Normandie University, IRIB, Rouen, France. [email protected].
7
INSERM, U905, Rouen, France. [email protected].
8
Department of Immunology, Rouen University Hospital, 22 bd Gambetta, 76000, Rouen, France.
[email protected].
97. Clin Rev Allergy Immunol. 2016 Jan 16. [Epub ahead of print]
The Immune Response and the Pathogenesis of Idiopathic Inflammatory Myositis: a Critical Review.
1,2
1
1
3
4,5
Ceribelli A , De Santis M , Isailovic N , Gershwin ME , Selmi C .
1
Division of Rheumatology and Clinical Immunology, Humanitas Research Hospital, via A. Manzoni 56, 20089, Rozzano,
MI, Italy.
2
BIOMETRA Department, University of Milan, Milan, Italy.
3
Division of Rheumatology, Allergy, and Clinical Immunology, University of California Davis, Davis, CA, USA.
4
Division of Rheumatology and Clinical Immunology, Humanitas Research Hospital, via A. Manzoni 56, 20089, Rozzano,
MI, Italy. [email protected].
5
BIOMETRA Department, University of Milan, Milan, Italy. [email protected].
98. J Dermatol. 2016 Jan 18. doi: 10.1111/1346-8138.13265. [Epub ahead of print]
Association of psoriasis with Hashimoto's thyroiditis, Sjögren's syndrome and dermatomyositis.
1
1
1
2
3
1
Akiyama M , Ueno T , Kanzaki A , Kuwana M , Nagao M , Saeki H .
1
Department of Dermatology, Nippon Medical School, Tokyo, Japan.
2
Department of Allergy and Rheumatology, Nippon Medical School, Tokyo, Japan.
3
Department of Endocrinology, Diabetes and Metabolism, Nippon Medical School, Tokyo, Japan.
LETTER
99. Clin Neurophysiol. 2015 Dec 19. pii: S1388-2457(15)01564-3. doi: 10.1016/j.clinph.2015.12.011. [Epub ahead
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Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis
and treatment.
21
1
2
Needham M , Mastaglia FL .
1
Institute for Immunology and Infectious Diseases, Murdoch University, Western Australia, Australia; Fiona Stanley
Hospital, Murdoch, Western Australia, Australia; Notre Dame University, Fremantle, Western Australia, Australia.
2
Institute for Immunology and Infectious Diseases, Murdoch University, Western Australia, Australia.
100. J Am Acad Dermatol. 2016 Feb;74(2):377-9. doi: 10.1016/j.jaad.2015.09.016.
A cross-sectional study of untreated depression and anxiety in cutaneous lupus erythematosus and
dermatomyositis.
1
2
3
1
4
Achtman J , Kling MA , Feng R , Okawa J , Werth VP .
1
Corporal Michael J. Crescenz VA Med Center, Philadelphia, PA; Department of Dermatology, University of
Pennsylvania, Philadelphia, PA.
2
Corporal Michael J. Crescenz VA Med Center, Philadelphia, PA; Department of Psychiatry, Perelman School of
Medicine, University of Pennsylvania, Philadelphia, PA.
3
Biostatistics and Epidemiology, Hospital of the University of Pennsylvania, Philadelphia, PA.
4
Corporal Michael J. Crescenz VA Med Center, Philadelphia, PA; Department of Dermatology, University of
Pennsylvania, Philadelphia, PA. Electronic address: [email protected].
101. Braz J Anesthesiol. 2016 Jan-Feb;66(1):72-4. doi: 10.1016/j.bjane.2013.06.021. Epub 2014 Apr 6.
Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case.
1
1
2
1
Marinho A , Guimarães MJ , Lages NC , Correia C .
1
Centro Hospitalar do Alto Ave, Hospital de Guimarães, Fafe, Portugal.
2
Centro Hospitalar do Alto Ave, Hospital de Guimarães, Fafe, Portugal. Electronic address: [email protected].
102. Clin Rev Allergy Immunol. 2016 Jan 14. [Epub ahead of print]
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1
2
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1
Department of Medicine, Myositis Center and Division of Rheumatology and Clinical Immunology, University of
Pittsburgh School of Medicine, 3601 5th Avenue, Suite 2B, Pittsburgh, PA, 15261, USA.
2
Department of Medicine, Myositis Center and Division of Rheumatology and Clinical Immunology, University of
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Myopathies mitochondriales – Mitochondrial myopathies
103. Anesth Analg. 2016 Feb;122(2):579-80. doi: 10.1213/ANE.0000000000000970.
More on Mitochondrial Myopathies.
1
Veyckemans F , Heytens L, Scholtes JL.
1
Service d'Anesthésiologie, Cliniques Universitaires Saint-Luc, Brussels, Belgium, [email protected]
Malignant Hyperthermia Laboratory, Universiteit Antwerpen, Antwerpen, Belgium Service d'Anesthésiologie, Cliniques
Universitaires Saint-Luc, Brussels, Belgium.
Myopathies avec surcharge en filaments ou à inclusions –Myopathies with excess of filaments
or inclusions
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Desmin, desminopathy and the complexity of genetics.
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1
1
1
2
Azzimato V , Gennebäck N , Tabish AM , Buyandelger B , Knöll R .
1
ICMC (Integrated Cardio Metabolic Centre), Karolinska Institutet Myocardial Genetics, Karolinska University Hospital in
Huddinge (M54) SE, 141 86, Stockholm, Sweden.
2
AstraZeneca R&D Mölndal, R&D, Innovative Medicines & Early Development, Cardiovascular & Metabolic Diseases
iMed Pepparedsleden 1, SE, 431 83 Mölndal, Sweden; ICMC (Integrated Cardio Metabolic Centre), Karolinska Institutet
Myocardial Genetics, Karolinska University Hospital in Huddinge (M54) SE, 141 86, Stockholm, Sweden. Electronic
EDITORIAL
22
105. Biophys J. 2016 Jan 19;110(2):470-80. doi: 10.1016/j.bpj.2015.11.3518.
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.
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2
3
3
3
4
2
4
4
Charrier EE , Asnacios A , Milloud R , De Mets R , Balland M , Delort F , Cardoso O , Vicart P , Batonnet-Pichon S ,
5
Hénon S .
1
Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 8251, Paris,
France; Matière et Systèmes Complexes, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 7057, Paris,
France.
2
Matière et Systèmes Complexes, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 7057, Paris, France.
3
LIPhy Université Grenoble 1, CNRS, UMR 5588, Grenoble, France.
4
Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 8251, Paris,
France.
5
Matière et Systèmes Complexes, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR 7057, Paris, France.
Sélénopathies – Selenopathies
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SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
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2
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4
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9
Ardissone A , Bragato C , Blasevich F , Maccagnano E , Salerno F , Gandioli C , Morandi L , Mora M , Moroni I .
1
Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy. [email protected].
2
Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.
[email protected].
3
[email protected].
4
Neuroradiology Unit, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy. [email protected].
5
[email protected].
6
7
[email protected].
8
[email protected].
9
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
1
1
2
3
4
1
Tan JS , Ambang T , Ahmad-Annuar A , Rajahram GS , Wong KT , Goh KJ .
1
Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
2
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
3
Department of Medicine, Hospital Queen Elizabeth, Kota Kinabalu, Sabah, Malaysia.
4
Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Muscle MRI in congenital myasthenic syndromes.
1
2
1
2
2
2
3
3
Finlayson S , Morrow JM , Rodriguez Cruz PM , Sinclair CD , Fischmann A , Thornton JS , Knight S , Norbury R ,
4
1
5
4
6
2
7
1
White M , Al-Hajjar M , Carboni N , Jayawant S , Robb SA , Yousry TA , Beeson D , Palace J .
1
Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, OX3
9DU, UK.
2
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.
3
University of Oxford Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, Oxford, UK, OX3 9DU.
4
University of Oxford Department of Paediatrics, Children's Hospital, Oxford, OX3 9DU, UK.
5
Neurology Department, Hospital San Francesco of Nuoro, Sardinia, Italy.
23
6
Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, WC1N 1EH, UK.
Neurosciences Group, Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Neurosciences,
University of Oxford, OX3 9DS, UK.
7
109. Neuromuscul Disord. 2015 Nov 23. pii: S0960-8966(15)00773-7. doi: 10.1016/j.nmd.2015.10.013. [Epub ahead
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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
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3
4
4
5
6
Natera-de Benito D , Bestué M , Vilchez JJ , Evangelista T , Töpf A , García-Ribes A , Trujillo-Tiebas MJ , García7
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11
12
4
8
8
Hoyos M , Ortez C , Camacho A , Jiménez E , Dusl M , Abicht A , Lochmüller H , Colomer J , Nascimento A .
1
Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. Electronic address:
[email protected].
2
Department of Neurology, Hospital General San Jorge, Huesca, Spain.
3
Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.
4
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
5
Department of Pediatrics, Hospital Universitario Cruces, Bilbao, Spain.
6
Department of Genetics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.
7
Department of Genetics, Instituto de Medicina Genómica, Valencia, Spain.
8
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
9
Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
10
Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Madrid, Spain.
11
Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich 80336,Germany.
12
Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich 80336,Germany; Medical Genetics Center,
Munich, Germany.
Dystrophies musculaires (plusieurs pathologies) - Muscular dystrophies (several diseases)
110. Lab Anim (NY). 2016 Jan 27;45(2):50. doi: 10.1038/laban.944.
Repair and rescue for muscular dystrophy.
Iyer N.
111. J Neurol Sci. 2016 Feb 15;361:29-33. doi: 10.1016/j.jns.2015.12.013. Epub 2015 Dec 10.
Rhabdomyolysis featuring muscular dystrophies.
1
2
Lahoria R , Milone M .
1
Neuromuscular Division, Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:
[email protected].
2
Neuromuscular Division, Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:
[email protected].
112. Molecules. 2015 Jul 16;20(7):12944-5. doi: 10.3390/molecules200712944.
Special Issue-Towards Understanding the Mechanisms and Curing of Muscular Dystrophy Diseases.
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Phylactou LA .
1
The Cyprus Institute of Neurology & Genetics, PO Box 23462, 1683 Nicosia, Cyprus. [email protected].
Muscular dystrophies are a heterogeneous group of inherited diseases with different molecular basss, but sharing
similar clinical features and dystrophic changes.
113. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311.
A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.
1
1
1
1
1
1
1
Mah JK , Korngut L , Fiest KM , Dykeman J , Day LJ , Pringsheim T , Jette N .
1
1Department of Clinical Neurosciences,University of Calgary,Calgary,Alberta,Canada.
Body weight-supported training in becker and limb girdle 2I muscular dystrophy.
24
1
1
2
1
2
2
Jensen BR , Berthelsen MP , Husu E , Christensen SB , Prahm KP , Vissing J .
1
Biomechanics and Motor Control Laboratory, Integrative Physiology, Department of Nutrition, Exercise and Sport,
University of Copenhagen, Denmark.
2
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
115. Stem Cells Int. 2016;2016:2650849. doi: 10.1155/2016/2650849. Epub 2015 Dec 6.
Effect of Periodic Granulocyte Colony-Stimulating Factor Administration on Endothelial Progenitor Cells and
Different Monocyte Subsets in Pediatric Patients with Muscular Dystrophies.
1
2
3
2
2
1
1
Eljaszewicz A , Sienkiewicz D , Grubczak K , Okurowska-Zawada B , Paszko-Patej G , Miklasz P , Singh P ,
1
2
4
Radzikowska U , Kulak W , Moniuszko M .
1
Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-269 Bialystok,
Poland.
2
Department of Pediatric Rehabilitation and Center of Early Support for Handicapped Children "Give a Chance", Medical
University of Bialystok, 15-274 Bialystok, Poland.
3
Poland; Department of Immunology, Medical University of Bialystok, 15-269 Bialystok, Poland.
4
Poland; Department of Allergology and Internal Medicine, Medical University of Bialystok, 15-276 Bialystok, Poland.
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
116. Comput Methods Programs Biomed. 2016 Jan 14. pii: S0169-2607(16)00004-3. doi:
10.1016/j.cmpb.2016.01.003. [Epub ahead of print]
The effect of recording site on extracted features of motor unit action potential.
1
2
3
4
5
6
Artuğ NT , Goker I , Bolat B , Osman O , Kocasoy Orhan E , Baslo MB .
1
Electrical and Electronics Engineering, Istanbul Arel University, Tepekent, Buyukcekmece, Istanbul, Turkey. Electronic
2
Biomedical Engineering, Istanbul Arel University, Tepekent, Buyukcekmece, Istanbul, Turkey. Electronic address:
[email protected].
3
Electronics and Communication Engineering, Yildiz Technical University, Esenler, Istanbul, Turkey. Electronic address:
[email protected].
4
Electrical and Electronics Engineering, Istanbul Arel University, Tepekent, Buyukcekmece, Istanbul, Turkey. Electronic
5
Istanbul Medical Faculty, Istanbul University, Fatih, Capa, Istanbul, Turkey. Electronic address: [email protected].
6
Istanbul Medical Faculty, Istanbul University, Fatih, Capa, Istanbul, Turkey. Electronic address:
[email protected].
117. Int J Cardiol. 2016 Jan 13;207:284-285. doi: 10.1016/j.ijcard.2016.01.175. [Epub ahead of print]
Sudden cardiac death in neuromuscolar disorders: Time to establish shared protocols for cardiac pacing.
1
2
2
Russo V , Rago A , Nigro G .
1
Chair of Cardiology, Second University of Naples - Monaldi Hospital, Italy. Electronic address: [email protected].
2
Chair of Cardiology, Second University of Naples - Monaldi Hospital, Italy.
118. Stem Cells Transl Med. 2016 Jan 21. pii: sctm.2015-0266. [Epub ahead of print]
Concise Review: Epigenetic Regulation of Myogenesis in Health and Disease.
1
1
2
Sincennes MC , Brun CE , Rudnicki MA .
1
Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa,
Ontario, Canada Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
2
Sprott Center for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa,
Ontario, Canada Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada
[email protected].
119. DNA Repair (Amst). 2015 Dec 12. pii: S1568-7864(15)30107-5. doi: 10.1016/j.dnarep.2015.11.008. [Epub
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Disease-associated repeat instability and mismatch repair.
25
1
2
Schmidt MH , Pearson CE .
1
Genetics & Genome Biology, The Hospital for Sick Children, Peter Gilgan Centre for Research & Learning, 686 Bay St.,
Toronto, Ontario M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Medical Sciences Bldg.,
1 King's College Circle, Toronto, Ontario M5S 1A8, Canada.
2
Genetics & Genome Biology, The Hospital for Sick Children, Peter Gilgan Centre for Research & Learning, 686 Bay St.,
Toronto, Ontario M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Medical Sciences Bldg.,
1 King's College Circle, Toronto, Ontario M5S 1A8, Canada. Electronic address: [email protected].
120. Equine Vet J. 2016 Jan 16. doi: 10.1111/evj.12562. [Epub ahead of print]
Atypical myopathy - insights on pathogenesis.
1
Naylor R .
1
Newmarket Equine Hospital, Suffolk, UK.
EDITORIAL
*
*
*
26
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
PLoS One. 2016 Jan 25;11(1):e0147640. doi: 10.1371/journal.pone.0147640. eCollection 2016.
1,2,3
2,4,5
1
, Farkas GA .
1
2
3
America.
4
5
Cell Calcium. 2016 Jan 6. pii: S0143-4160(16)00003-8. doi: 10.1016/j.ceca.2016.01.001. [Epub ahead of print]
Axial stretch-dependent cation entry in dystrophic cardiomyopathy: Involvement of several TRPs channels.
1
2
1
3
4
5
1
2
6
Aguettaz E , Lopez JJ , Krzesiak A , Lipskaia L , Adnot S , Hajjar RJ , Cognard C , Constantin B , Sebille S .
1
et Rythmicité Cardiaque (TIRC), Université de Poitiers, 86073 Poitiers Cedex 9, France.
2
Laboratoire de Signalisation et Transports Ioniques Membranaires (STIM CNRS ERL 7368), Equipe Calcium et
Microenvironnement des Cellules Souches (CMCS), Université de Poitiers, 86073 Poitiers Cedex 9, France.
3
94010 Créteil, France; Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY 10029,
USA.
4
94010 Créteil, France.
5
Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
6
et Rythmicité Cardiaque (TIRC), Université de Poitiers, 86073 Poitiers Cedex 9, France. Electronic address:
[email protected].
J Cardiovasc Magn Reson. 2016 Jan 21;18(1):5. doi: 10.1186/s12968-016-0224-7.
Increased myocardial native T1 and extracellular volume in patients with Duchenne muscular dystrophy.
1
2
3
4
5
6
7
8
9
Soslow JH , Damon SM , Crum K , Lawson MA , Slaughter JC , Xu M , Arai AE , Sawyer DB , Parra DA , Damon
10,11,12
13
BM
, Markham LW .
1
2
Department of Electrical Engineering and Computer Sciences, Vanderbilt University, Nashville, TN, USA.
[email protected].
3
4
Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN,
USA. [email protected].
5
Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
[email protected].
6
Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA. [email protected].
7
National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, USA.
[email protected].
8
Department of Cardiac Services, Maine Medical Center, Portland, ME, USA. [email protected].
9
10
Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
[email protected].
11
Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.
[email protected].
12
Department of Biomedical Engineering, Vanderbilt University, Nashville, TN, USA. [email protected].
27
13
Methods Enzymol. 2016;568:557-80. doi: 10.1016/bs.mie.2015.07.028. Epub 2015 Oct 24.
Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin
A/C Gene Mutations.
1
2
Muchir A , Worman HJ .
1
Center of Research in Myology, UPMC-Inserm UMR974, CNRS FRE3617, Institut de Myologie, G.H. Pitie Salpetriere,
Paris Cedex, France.
2
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, USA; Department of
Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, USA. Electronic
Case Rep Cardiol. 2015;2015:151269. doi: 10.1155/2015/151269. Epub 2015 Dec 15.
Rare Cause of Wide QRS Tachycardia.
1
1
2
3
1
Mironov NY , Mironova NA , Saidova MA , Stukalova OV , Golitsyn SP .
1
Department of Clinical Electrophysiology, Russian Cardiology Research Center, Russia.
2
Department of Sonography, Russian Cardiology Research Center, Russia.
3
Department of Tomography, Russian Cardiology Research Center, Russia.
Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S37-41. doi: 10.1016/S0929-693X(16)30007-0.
[Cardiac involvement in dystrophinopathies].
[Article in French]
1
Wahbi K .
1
AP-HP, Cochin Hospital, Department of Cardiolog, France Paris Descartes University, Paris, France. Electronic
Pneumologie - Pneumology
PLoS One. 2016 Jan 25;11(1):e0147640. doi: 10.1371/journal.pone.0147640. eCollection 2016.
1,2,3
2,4,5
1
, Farkas GA .
1
2
3
America.
4
5
Neuromuscul Disord. 2015 Nov 30. pii: S0960-8966(15)00797-X. doi: 10.1016/j.nmd.2015.11.009. [Epub ahead of print]
Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced
vital capacity) predict ventilator use in late-onset Pompe disease.
1
2
3
4
5
6
Johnson EM , Roberts M , Mozaffar T , Young P , Quartel A , Berger KI .
Author information
1
BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: [email protected].
2
Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK.
3
Department of Neurology, University of California, Irvine, CA, USA.
4
Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Münster, Münster, Germany.
5
BioMarin Pharmaceutical Inc., Novato, CA, USA.
6
Departments of Medicine, Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA.
28
Rev Med Chir Soc Med Nat Iasi. 2015 Oct-Dec;119(4):1055-9.
A CASE OF POLYMYOSITIS WITH INTERSTITIAL LUNG DISEASE ONSET.
Enache A, Bădulescu M, Burlui A, Cardoneanu A, Stamate IG, Mihăescu T, Rezuş E.
[Respiratory and intensive care aspects of muscular dystrophies].
[Article in French]
1
1
1
2
Ambrosi X , Lamothe L , Heming N , Orlikowski D .
1
92380 APHP, Garches, France.
2
92380 APHP, Garches, France; Centre d'investigation clinique Inserm 1429, hôpital Raymond Poincaré, 104 boulevard
Raymond Poincaré, 92380 APHP, Garches, France. Electronic address: [email protected].
Braz J Anesthesiol. 2016 Jan-Feb;66(1):72-4. doi: 10.1016/j.bjane.2013.06.021. Epub 2014 Apr 6.
Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case.
1
1
2
1
Marinho A , Guimarães MJ , Lages NC , Correia C .
1
Centro Hospitalar do Alto Ave, Hospital de Guimarães, Fafe, Portugal.
2
Centro Hospitalar do Alto Ave, Hospital de Guimarães, Fafe, Portugal. Electronic address: [email protected].
Médecine physique et de réadaptation - Physical and rehabilitation medicine
[Functional and orthopaedic aspects of dystrophinopathies].
[Article in French]
1
2
Boulay C , Finidori G .
1
Service de neurologie pédiatrique, Centre de Référence des maladies neuromusculaires de l'enfant, CHU Timone
Enfants, 13385 Marseille cedex5; Service de chirurgie orthopédique pédiatrique, CHU Timone Enfants, 13385 Marseille
cedex5. Electronic address: [email protected].
2
Service de chirurgie orthopédique pédiatrique, CHU Necker-enfants malades, 75015 Paris.
29

Veille Neuromusculaire / Neuromuscular Alert

Transcription

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