Veille Neuromusculaire / Neuromuscular Alert

Transcription

Bibliographie sur les maladies neuromusculaires
Bibliography on neuromuscular disorders
n° 2016-09-2 du 9 au 22 septembre 2016 (September 9-22, 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
Canalopathies musculaires- Muscular Channelopathies ........................................................................... 3
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease .............................................................. 3
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies .......................................... 4
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker Dystrophinopathies......................................................................................................................................... 5
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy (FSHD) . 9
Dystrophies myotoniques - Myotonic dystrophies ..................................................................................... 9
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva .................................. 10
Maladie de Pompe – Pompe’s disease........................................................................................................ 10
Myasthénie autoimmune– Myasthenia Gravis ........................................................................................... 11
Myopathies congénitales – Congenital Myopathies .................................................................................. 13
Myopathies liées à TRPV4 – TRPV4 related myopathies .......................................................................... 13
Myopathies inflammatoires - Inflammatory myopathies ........................................................................... 13
Myopathies métaboliques - Metabolic myopathies ................................................................................... 16
Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 16
Myopathies myofibrillaires – Myofibrillar myopathies .............................................................................. 18
Myotonies congénitales –Myotonia congenita .......................................................................................... 18
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome ...................................... 19
Dystrophies musculaires (plusieurs pathologies) - Muscular dystrophies (several diseases) ........... 19
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 20
Sommaire par spécialités / specialties
Cardiologie - Cardiology .............................................................................................................................. 22
Imagerie médicale - Medical Imaging .......................................................................................................... 22
Pneumologie - Pneumology ......................................................................................................................... 22
Médecine physique et de réadaptation - Physical and rehabilitation medicine ..................................... 23
Ophtalmologie - Ophtalmology .................................................................................................................... 23
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA)
1. Mol Ther Methods Clin Dev. 2016 Sep 14;3:16060. doi: 10.1038/mtm.2016.60. eCollection 2016.
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1
vector in a mouse model of spinal muscular atrophy.
1
1
1
2
2
3
2
2
3
Armbruster N , Lattanzi A , Jeavons M , Van Wittenberghe L , Gjata B , Marais T , Martin S , Vignaud A , Voit T ,
1
3
1
Mavilio F , Barkats M , Buj-Bello A .
1
INSERM UMR 951, Evry, France; Genethon, Evry, France.
2
Genethon , Evry, France.
3
Center of Research in Myology, INSERM UMRS 974, CNRS FRE 3617, Institut de Myologie, Université Pierre et Marie
Curie Paris 6 , Paris, France.
2. Pediatrics. 2016 Sep 20. pii: e20161068. [Epub ahead of print]
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.
1
2
3
4
5
1
6
Teoh HL , Solyom A , Schuchman EH , Mowat D , Roscioli T , Farrar M , Sampaio H .
AFM-Téléthon>Myodoc – 23/09
/2016
1
1
Departments of Neurology and Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine,
The University of New South Wales, Sydney, Australia;
2
Clinical Research, Plexcera Therapeutics LLC, New York, New York;
3
Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mt. Sinai, New York, New York;
4
Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South
Wales, Sydney, Australia; Medical Genetics, Sydney Children's Hospital, Sydney Australia;
5
Medical Genetics, Sydney Children's Hospital, Sydney Australia; St Vincent's Clinical School, University of New South
Wales, Darlinghurst, Australia; and Kinghorn Centre for Clinical Genomics, Darlinghurst, New South Wales, Australia.
6
Departments of Neurology and Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine,
The University of New South Wales, Sydney, Australia; [email protected].
3. Epileptic Disord. 2016 Sep 19. [Epub ahead of print]
Spinal muscular atrophy associated with progressive myoclonic epilepsy.
1
2
Topaloglu H , Melki J .
1
Hacettepe University Departments of Pediatric Neurology, Ankara, Turkey.
2
Unité mixte de recherche (UMR)-1169, Inserm and University Paris Sud, Le Kremlin Bicêtre, France.
4. J Pediatr Orthop. 2016 Sep 15. [Epub ahead of print]
Radiographic and Respiratory Effects of Growing Rods in Children With Spinal Muscular Atrophy.
1
Lenhart RL , Youlo S, Schroth MK, Noonan KJ, McCarthy J, Mann D, Hetzel S, Sund SA, Halanski MA.
1
Departments of *Biomedical Engineering ∥Biostatistics and Medical Informatics †Orthopedics and Rehabilitation
‡Pediatrics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI §Pediatric Orthopedic
Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
5. RNA Biol. 2016 Sep 14:0. [Epub ahead of print]
Cajal bodies in neurons.
1
1
1
1
Lafarga M , Tapia O , Romero AM , Berciano MT .
1
a Departamento de Anatomía y Biología Celular and "Centro de Investigación Biomédica en Red sobre Enfermedades
Neurodegenerativas (CIBERNED)" , Universidad de Cantabria-IDIVAL , Santander , Spain.
6. Proc Natl Acad Sci U S A. 2016 Sep 12. pii: 201605731. [Epub ahead of print]
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy.
1
1
2
2
1
3
1
4
4
Hammond SM , Hazell G , Shabanpoor F , Saleh AF , Bowerman M , Sleigh JN , Meijboom KE , Zhou H , Muntoni F ,
3
2
5
Talbot K , Gait MJ , Wood MJ .
1
Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom;
2
Laboratory of Molecular Biology, Medical Research Council, Cambridge CB2 0QH, United Kingdom;
3
Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University, Oxford OX3 9DU, United
Kingdom;
4
Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London WC1N 1EH, United
Kingdom.
5
Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom;
[email protected].
7. Am J Perinatol. 2016 Sep 9. [Epub ahead of print]
Prenatal Carrier Screening for Spinal Muscular Atrophy.
1
1
1
1
1
Wood SL , Brewer F , Ellison R , Biggio JR , Edwards RK .
1
Center for Women's Reproductive Health, Department of Obstetrics and Gynecology, Division of Maternal-Fetal
Medicine, University of Alabama at Birmingham, Birmingham, Alabama.
8. Front Mol Neurosci. 2016 Aug 24;9:76. doi: 10.3389/fnmol.2016.00076. eCollection 2016.
Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe
Mouse Model of Spinal Muscular Atrophy.
/2016
2
1
2
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2
5
3
2
Oliván S , Calvo AC , Rando A , Herrando-Grabulosa M , Manzano R , Zaragoza P , Tizzano EF , Aquilera J , Osta R .
1
Laboratorio de Genética Bioquímica, Facultad de Veterinaria, Instituto Agroalimentario de Aragón (IA2), Centro de
Investigación y Tecnología Agroalimentaria de Aragón, Instituto de Investigación Sanitaria Aragón, Universidad de
ZaragozaZaragoza, Spain; Centro de Investigación Biomédica en Red en Bioingeniería, Biomateriales y Nanomedicina,
Grupo AMB, Instituto de Investigación en Ingeniería de Aragón (I3A), Universidad de ZaragozaZaragoza, Spain.
2
Laboratorio de Genética Bioquímica, Facultad de Veterinaria, Instituto Agroalimentario de Aragón (IA2), Centro de
Investigación y Tecnología Agroalimentaria de Aragón, Instituto de Investigación Sanitaria Aragón, Universidad de
Zaragoza Zaragoza, Spain.
3
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Spain Institut de Neurociències
and Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona
Cerdanyola del Vallès, Spain.
4
Department of Physiology, Anatomy and Genetics, University of Oxford Oxford, UK.
5
Área de Genética Clínica y Molecular, Hospital Vall d'Hebron, Centros de Investigación Biomédica en Red Barcelona,
Spain.
Canalopathies musculaires- Muscular Channelopathies
9. Muscle Nerve. 2016 Sep 17. doi: 10.1002/mus.25407. [Epub ahead of print]
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
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1
4
Cassone M , Ferradini V , Longo G , Sarchielli P , Murasecco D , Romoli M , Pasquini E , Novelli G , Prontera P ,
5
Sangiuolo F .
1
Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.
2
Clinica Neurologica, Azienda Ospedaliera-Università di Perugia, Perugia, Italy.
3
A. Meyer Children's University Hospital, Florence, Italy.
4
Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy.
5
Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy. [email protected].
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
1
2
3
4
Doppler K , Kunstmann E , Krüger S , Sommer C .
1
University Hospital Würzburg, Department of Neurology, Würzburg, Germany. [email protected].
2
Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
3
Gemeinschaftspraxis für Humangenetik, Dresden, Germany.
4
University Hospital Würzburg, Department of Neurology, Würzburg, Germany.
11. Genes Brain Behav. 2016 Sep 19. doi: 10.1111/gbb.12341. [Epub ahead of print]
Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
1,2
1,2
3
1,2
1,2
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5
1,2
6,7
Villalón E , Jones MR , Sibigtroth C , Zino SJ , Dale JM , Landayan DS , Shen H , Cornelison D , Garcia ML .
1
Division of Biological Sciences, University of Missouri-Columbia, Columbia, MO, 65211.
2
Bond Life Sciences Center, University of Missouri-Columbia, Columbia, MO, 65211.
3
Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri-Columbia,
Columbia, MO, 65211.
4
Quantitative and Systems Biology, University of California Merced, Merced, CA, 95343.
5
Institute of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai,
200031, China.
6
Division of Biological Sciences, University of Missouri-Columbia, Columbia, MO, 65211. [email protected].
7
Bond Life Sciences Center, University of Missouri-Columbia, Columbia, MO, 65211. [email protected].
12. Br J Dermatol. 2016 Sep 17. doi: 10.1111/bjd.15066. [Epub ahead of print]
Palmoplantar Keratoderma and Charcot-Marie-Tooth: combination of two independent genetic diseases?
Identification of two point mutations in CMT2 and PPK genes by whole exome sequencing.
1
2
3
2
2
4
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3,6
2
Gagliard S , Ricca I , Ferrarini A , Valente M , Grieco GS , Piccolo G , Alfonsi E , Delledonne M , Cereda C .
1
Laboratory of Experimental Neurobiology, National Neurological Institute C. Mondino, Pavia, Italy.
[email protected].
2
Laboratory of Experimental Neurobiology, National Neurological Institute C. Mondino, Pavia, Italy.
3
Department of Biotechnologies, University of Verona, Verona, Italy.
4
Consultant Neurologist, National Neurological Institute C. Mondino, Pavia, Italy.
5
Neurophysiology Unit, IRCCS National Neurological Institute "C. Mondino", Pavia, Italy.
/2016
3
6
Personal Genomics SRL, Verona, Italy.
13. Intern Med. 2016;55(18):2707-12. doi: 10.2169/internalmedicine.55.5815. Epub 2016 Sep 15.
Successful Treatment of Amyloid Light-chain Amyloidosis in a Charcot-Marie-Tooth Disease Patient with
Lenalidomide, Cyclophosphamide, and Dexamethasone.
1
Kikukawa Y , Hata H, Ueda M, Yamashita T, Nasu S, Ide K, Ueno S, Ando Y, Mitsuya H, Okuno Y.
1
Departments of Hematology, Rheumatology, and Infectious Disease, Kumamoto University Graduate School of
Medicine, Japan.
14. Ann Neurol. 2016 Sep 12. doi: 10.1002/ana.24776. [Epub ahead of print]
A Novel Missense Mutation of CMT2P Alters Transcription Machinery.
1
1
2
3
Hu B , Arpag S , Zuchner S , Li J .
1
Department of Neurology, Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University
School of Medicine, Nashville, Tennessee.
2
Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of
Medicine.
3
Department of Neurology, Center for Human Genetic Research, and Vanderbilt Brain Institute, Vanderbilt University
School of Medicine, Nashville, Tennessee. [email protected].
15. Neuromuscul Disord. 2016 Aug 22. pii: S0960-8966(16)30166-3. doi: 10.1016/j.nmd.2016.08.010. [Epub ahead
of print]
Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.
1
2
3
4
van Doormaal TP , van Ruissen F , Miller KJ , Hoogendijk JE .
1
Department of Neurosurgery, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The
Netherlands. Electronic address: [email protected].
2
Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands.
3
Department of Neurosurgery, Stanford University, Stanford, CA, USA.
4
Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies
16. PLoS One. 2016 Sep 14;11(9):e0161984. doi: 10.1371/journal.pone.0161984. eCollection 2016.
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular
Dystrophy 2i.
1
2
3
1
Maricelli JW , Lu QL , Lin DC , Rodgers BD .
1
School of Molecular Biology, Washington Center for Muscle Biology, Washington State University, Pullman,
Washington, United States of America.
2
Department of Neurology, Carolinas Medical Center, Charlotte, North Carolina, United States of America.
3
Voiland School of Chemical Engineering and Bioengineering, Department of Integrative Physiology and Neuroscience,
Washington Center for Muscle Biology, Washington State University, Pullman, Washington, United States of America.
17. Neuromuscul Disord. 2016 Jul 16. pii: S0960-8966(16)30095-5. doi: 10.1016/j.nmd.2016.07.003. [Epub ahead
of print]
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
1
2
3
4
de Fuenmayor-Fernández de la Hoz CP , Hernández-Laín A , Olivé M , Fernández-Marmiesse A , Domínguez5
González C .
1
Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address:
[email protected].
2
Unidad de Neuromuscular, Hospital Universitario 12 de Octubre, Madrid, Spain; Instituto de Investigación I+12, Madrid,
Spain; Servicio de Neuropatología, Hospital Universitario 12 de Octubre, Madrid, Spain.
3
Hospitalet de Llobregat, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas
(CIBERNED), Spain.
4
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas (UDyTEMC), Hospital Clínico
Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
/2016
4
5
Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, Spain; Unidad de Neuromuscular, Hospital
Universitario 12 de Octubre, Madrid, Spain; Instituto de Investigación I+12, Madrid, Spain; Centro de Investigación
Biomédica en Red de Enfermedades Raras (CIBERER), grupo U-723, Spain.
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
- Dystrophinopathies
Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and
Function Define Endpoints for Clinical Trials.
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2,3
2,3
1
4
5
2,3
2
2
Ricotti V , Evans MR , Sinclair CD , Butler JW , Ridout DA , Hogrel JY , Emira A , Morrow JM , Reilly MM , Hanna
2
6
2,7
2,3
1,2
2,3
MG , Janiczek RL , Matthews PM , Yousry TA , Muntoni F , Thornton JS .
1
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United
Kingdom.
2
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
3
Neuroradiological Academic Unit, UCL Institute of Neurology, London, United Kingdom.
4
Population, Policy and Practice Programme, UCL Institute of Child Health and Great Ormond Street Hospital, London,
United Kingdom.
5
Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.
6
GlaxoSmithKline, London, United Kingdom.
7
Division of Brain Sciences and Centre for Neurotechnology, Imperial College London, United Kingdom.
Patient-centered benefit-risk assessment in Duchenne Muscular Dystrophy.
1
2,3
4,5
6
Hollin IL , Peay H , Apkon SD , Bridges J .
1
Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland. [email protected].
2
RTI International, Research Triangle Park.
3
Parent Project Muscular Dystrophy, Hackensack, New Jersey.
4
Department of Rehabilitation Medicine, Seattle Children's Hospital, Seattle, WA.
5
University of Washington, Seattle, WA.
6
Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
20. J Pediatr. 2016 Sep 15. pii: S0022-3476(16)30858-7. doi: 10.1016/j.jpeds.2016.08.075. [Epub ahead of print]
Prevalence of Vertebral Fractures in Children with Suspected Osteoporosis.
1
1
1
2
Kyriakou A , Shepherd S , Mason A , Ahmed SF .
1
Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital for Children,
Glasgow, United Kingdom.
2
Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital for Children,
Glasgow, United Kingdom. Electronic address: [email protected].
21. Hum Mol Genet. 2016 Sep 16. pii: ddw318. [Epub ahead of print]
Independent variability of microtubule perturbations associated with dystrophinopathy.
1
1
2
1
1
1
1
3
Belanto JJ , Olthoff JT , Mader TL , Chamberlain CM , Nelson DM , McCourt PM , Talsness DM , Gunderson GG ,
2
4
Lowe DA , Ervasti JM .
1
Department of Biochemistry, Molecular Biology, and Biophysics, and Program in Molecular, Cellular, Developmental
Biology, and Genetics.
2
Programs in Rehabilitation Science and Physical Therapy, Department of Physical Medicine and Rehabilitation,
University of Minnesota - Twin Cities, Minneapolis, MN 55455, USA.
3
Department of Pathology & Cell Biology, Columbia University, New York, NY 10032, USA.
4
Department of Biochemistry, Molecular Biology, and Biophysics, and Program in Molecular, Cellular, Developmental
Biology, and Genetics, [email protected].
22. Sci Rep. 2016 Sep 16;6:33362. doi: 10.1038/srep33362.
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.
1
2
1
2
1
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4
3
1,2
Fröhlich T , Kemter E , Flenkenthaler F , Klymiuk N , Otte KA , Blutke A , Krause S , Walter MC , Wanke R , Wolf E ,
1
Arnold GJ .
/2016
5
1
Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377
Munich, Germany.
2
Chair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, LMU
Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.
3
Institute of Veterinary Pathology, Centre for Clinical Veterinary Medicine, LMU Munich, Veterinärstr. 13, D-80539
Munich, Germany.
4
Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Ziemssenstr. 1, D-80336 Munich, Germany.
23. J Rehabil Med. 2016 Sep 16. doi: 10.2340/16501977-2144. [Epub ahead of print]
Active lung volume recruitment to preserve vital capacity in Duchenne muscular dystrophy.
1
Chiou M , Bach JR, Jethani L, Gallagher MF.
1
Department of Physical Medicine and Rehabilitation, Rutgers New Jersey Medical School, 07103 Newark, USA.
[email protected].
24. Appl Physiol Nutr Metab. 2016 Aug 18:1-4. [Epub ahead of print]
Sodium 4-phenylbutyrate reduces myofiber damage in a mouse model of Duchenne muscular dystrophy.
1
1
2
1
Begam M , Abro VM , Mueller AL , Roche JA .
1
a Department of Health Care Sciences, Physical Therapy Program, Wayne State University, 259 Mack Ave., Rm. 4440,
Detroit, MI 48201, USA.
2
b Program in Molecular Medicine, University of Maryland School of Medicine, 685 W. Baltimore St., Rm. 580, Baltimore,
MD 21201, USA.
Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy.
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4,5
6
1
7
8,9
10
Ropars J , Lempereur M , Vuillerot C , Tiffreau V , Peudenier S , Cuisset JM , Pereon Y , Leboeuf F , Delporte
11
12
7
2,3
L , Delpierre Y , Gross R , Brochard S .
1
CHRU de Brest, service de pédiatrie, Brest, France.
2
Laboratoire de Traitement de l'Information Médicale INSERM U1101, Brest, France.
3
CHRU de Brest, Service de Médecine Physique et Réadaptation, Brest, France.
4
L'Escale, service central de rééducation pédiatrique, Lyon, France.
5
CNRS, UMR 5558, Pierre-Bénite, France.
6
CHRU de Lille, Service de médecine physique et de réadaptation, Lille, France.
7
CHRU de Lille, service de neurologie pédiatrique, Lille, France.
8
Centre de Référence Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France.
9
Atlantic Gene Therapy Institute, Nantes, France.
10
CHU de Nantes, Pôle de Médecine Physique et Réadaptation, Nantes, France.
11
Plateforme « Mouvement et Handicap », Hospices Civils de Lyon, Bron, France.
12
Service de rééducation neurologique pédiatrique, centre de l'Arche, Le Mans, France.
26. Drug Des Devel Ther. 2016 Aug 30;10:2745-58. doi: 10.2147/DDDT.S110163. eCollection 2016.
Anti-inflammatory drugs for Duchenne muscular dystrophy: focus on skeletal muscle-releasing factors.
1
2
1
1
Miyatake S , Shimizu-Motohashi Y , Takeda S , Aoki Y .
1
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry,
Kodaira, Tokyo, Japan.
2
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo,
Japan.
27. Circulation. 2016 Sep 13;134(11):777-9. doi: 10.1161/CIRCULATIONAHA.116.024007.
CRISPR (Clustered Regularly Interspaced Palindromic Repeat)/Cas9 System: A Revolutionary DiseaseModifying Technology.
1
Munshi NV .
1
From Department of Internal Medicine, Division of Cardiology, UT Southwestern Medical Center; McDermott Center for
Human Growth and Development, UT Southwestern Medical Center; Department of Molecular Biology, UT
/2016
6
Southwestern Medical Center; and Hamon Center for Regenerative Science and Medicine, UT Southwestern Medical
Center; Dallas, TX. [email protected].
28. J Clin Invest. 2016 Sep 12. pii: 87414. doi: 10.1172/JCI87414. [Epub ahead of print]
COUP-TFII regulates satellite cell function and muscular dystrophy.
Xie X, Tsai SY, Tsai MJ.
of print]
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.
1
2
2
2
2
3
1
3
4
3
Todeschini A , Gualandi F , Trabanelli C , Armaroli A , Ravani A , Fanin M , Rota S , Bello L , Ferlini A , Pegoraro E ,
1
5
Padovani A , Filosto M .
1
Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia,
Brescia, Italy.
2
Department of Medical Sciences, Logistic Unit of Medical Genetics, University- Hospital of Ferrara, Italy.
3
Department of Neurosciences, University of Padua, Padua.
4
Department of Medical Sciences, Logistic Unit of Medical Genetics, University- Hospital of Ferrara, Italy; Dubowitz
Neuromuscular Centre, Developmental Neuroscience Programme, UCL Institute of Child Health, London, UK.
5
Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia,
Brescia, Italy. Electronic address: [email protected].
of print]
Bone health measures in glucocorticoid-treated ambulatory boys with Duchenne muscular dystrophy.
1
1
2
3
4
5
5
6
Tian C , Wong BL , Hornung L , Khoury JC , Miller L , Bange J , Rybalsky I , Rutter MM .
1
Division of Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA;
University of Cincinnati College of Medicine, 2600 Clifton Avenue, Cincinnati, OH 45220, USA.
2
Division of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue,
Cincinnati, OH 45229, USA.
3
University of Cincinnati College of Medicine, 2600 Clifton Avenue, Cincinnati, OH 45220, USA; Division of Biostatistics
and Epidemiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA;
Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229,
USA.
4
Department of Psychological Sciences, University of Connecticut, 406 Babbidge Road, Storrs, CT 06269, USA.
5
Division of Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
6
University of Cincinnati College of Medicine, 2600 Clifton Avenue, Cincinnati, OH 45220, USA; Division of
Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Electronic address: [email protected].
31. Neuromuscul Disord. 2016 Aug 17. pii: S0960-8966(16)30030-X. doi: 10.1016/j.nmd.2016.08.006. [Epub ahead
of print]
Reduced neuronal density in the CA1 anterodorsal hippocampus of the mdx mouse.
1
2
2
Miranda R , Laroche S , Vaillend C .
1
Neuroscience Paris-Saclay Institute (Neuro-PSI), UMR 9197, Université Paris Sud, CNRS, Université Paris Saclay,
Orsay, France. Electronic address: [email protected].
2
Neuroscience Paris-Saclay Institute (Neuro-PSI), UMR 9197, Université Paris Sud, CNRS, Université Paris Saclay,
Orsay, France.
of print]
Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and
autism spectrum disorder: A case report.
1
2
3
4
5
2
Hendriksen JG , Klinkenberg S , Collin P , Wong B , Niks E , Vles JS .
1
Center of Neurological Learning Disabilities, Kempenhaeghe, Heeze, The Netherlands; Department of Neurology,
Maastricht University Medical Center, Maastricht, The Netherlands. Electronic address: [email protected].
/2016
7
2
Center of Neurological Learning Disabilities, Kempenhaeghe, Heeze, The Netherlands; Department of Neurology,
Maastricht University Medical Center, Maastricht, The Netherlands.
3
Center of Neurological Learning Disabilities, Kempenhaeghe, Heeze, The Netherlands; Koraalgroep, Gastenhof,
Maasbracht, The Netherlands.
4
Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, USA.
5
Department of Neurology, Leiden University Medical Center, The Netherlands.
Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in
(Pre-)Clinical Development for Duchenne Muscular Dystrophy.
1
1
1
Verheul RC , van Deutekom JC , Datson NA .
Author information
1
BioMarin Nederland BV, Leiden, The Netherlands.
34. Redox Biol. 2016 Aug 30;9:276-286. doi: 10.1016/j.redox.2016.08.016. [Epub ahead of print]
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever
Muscular Dystrophy dog model for Duchenne Muscular Dystrophy.
1
2
3
4
2
3
5
2
Terrill JR , Duong MN , Turner R , Le Guiner C , Boyatzis A , Kettle AJ , Grounds MD , Arthur PG .
1
School of Chemistry and Biochemistry, the University of Western Australia, Perth, Western Australia, Australia; School
of Anatomy, Physiology and Human Biology, the University of Western Australia, Perth, Western Australia, Australia.
2
School of Chemistry and Biochemistry, the University of Western Australia, Perth, Western Australia, Australia.
3
Centre for Free Radical Research, Department of Pathology, the University of Otago, Christchurch, New Zealand.
4
Atlantic Gene Therapies, INSERM UMR1089, Nantes, France; Genethon, Evry, France.
5
School of Anatomy, Physiology and Human Biology, the University of Western Australia, Perth, Western Australia,
Australia.
35. Ann Clin Transl Neurol. 2016 Jun 16;3(8):607-22. doi: 10.1002/acn3.319. eCollection 2016.
Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.
1
2
3
4
1
5
1
4
4
Godi C , Ambrosi A , Nicastro F , Previtali SC , Santarosa C , Napolitano S , Iadanza A , Scarlato M , Natali Sora MG ,
3
1
5
6
7
1
3
8
9
6
Tettamanti A , Gerevini S , Cicalese MP , Sitzia C , Venturini M , Falini A , Gatti R , Ciceri F , Cossu G , Torrente Y ,
10
Politi LS .
1
Neuroradiology Department Neuroradiology Research Group and CERMAC San Raffaele Scientific Institute and VitaSalute San Raffaele University Milan Italy.
2
CUSSB University Centre for Biomedical Sciences Vita-Salute San Raffaele University Milan Italy.
3
Laboratory of Analysis and Rehabilitation of Motor Function Division of Neuroscience San Raffaele Scientific Institute
Milan Italy.
4
Division of Neuroscience Institute of Experimental Neurology (INSpe) San Raffaele Scientific Institute Milan Italy.
5
San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) and Pediatric Immunohematology and Bone Marrow
Transplantation Unit San Raffaele Scientific Institute Milan Italy.
6
Stem Cell Laboratory Department of Pathophysiology and Transplantation Universitá degli Studi di Milano Fondazione
IRCCS Cá Granda Ospedale Maggiore Policlinico Centro Dino Ferrari, Milan Italy.
7
Radiology Department San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy.
8
Hematology and BMT Unit San Raffaele Scientific Institute and Vita-Salute San Raffaele University Milan Italy.
9
Institute of Inflammation and Repair University of Manchester Manchester United Kingdom.
10
Neuroradiology DepartmentNeuroradiology Research Group and CERMACSan Raffaele Scientific Institute and VitaSalute San Raffaele UniversityMilanItaly; Neuroimaging ResearchDivision of Hematology/OncologyBoston Children's
HospitalBostonMAUSA; Department of PediatricsHarvard Medical SchoolBostonMAUSA; University of Massachusetts
Memorial Medical Center and University of Massachusetts Medical SchoolWorcesterMAUSA.
/2016
8
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy
(FSHD)
36. BMC Med Genet. 2016 Sep 15;17(1):66. doi: 10.1186/s12881-016-0328-9.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case
report.
1
1
1
1
1,2
3
4
4
1
Gaillard MC , Puppo F , Roche S , Dion C , Campana ES , Mariot V , Chaix C , Vovan C , Mazaleyrat K , Tasmadjian
1
1,4
3
1,2
1,4
1,4
5
1,4
A , Bernard R , Dumonceaux J , Attarian S , Lévy N , Nguyen K , Magdinier F , Bartoli M .
Aix Marseille Univ, INSERM, GMGF, Marseille, France.
2
APHM, Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de la Timone, Marseille, 13385,
France.
3
Center of Research in Myology/ Institut de Myologie UMR974 - UPMC Université Paris 6/ Inserm /FRE3617- CNRS,
Groupement Hospitalier de la Pitié Salpétrière, Paris, Cedex 13, France.
4
APHM, Laboratoire de Génétique Médicale, Hôpital de la Timone, Marseille, 13385, France.
5
Aix Marseille Univ, INSERM, GMGF, Marseille, France. [email protected].
37. Hum Mol Genet. 2016 Sep 11. pii: ddw287. [Epub ahead of print]
Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.
1
2
1
1
1
1
1
3
Eidahl JO , Giesige CR , Domire JS , Wallace LM , Fowler AM , Guckes S , Garwick-Coppens S , Labhart P , Harper
4
SQ .
1
Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH.
2
Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH Biomedical
Sciences Graduate Program, The Ohio State University, Columbus, OH.
3
Active Motif, Carlsbad, CA.
4
Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH Biomedical
Sciences Graduate Program, The Ohio State University, Columbus, OH Department of Pediatrics, The Ohio State
University, Columbus, OH [email protected].
Dystrophies myotoniques - Myotonic dystrophies
38. Medicine (Baltimore). 2016 Sep;95(37):e4885. doi: 10.1097/MD.0000000000004885.
Opioid-free general anesthesia in patient with Steinert syndrome (myotonic dystrophy): Case report.
1
Gaszynski T .
1
Department of Anaesthesiology and Intensive Therapy, Medical University of Lodz, Lodz, Poland.
39. Neurol India. 2016 Sep-Oct;64(5):1051-2. doi: 10.4103/0028-3886.190276.
Myotonic dystrophy type 2 presenting as inflammatory myopathy.
1
2
3
2
3
4
Papadopoulos C , Panagopoulos G , Kekou K , Fardis V , Kitsiou-Tzeli S , Papadimas GK .
1
First Department of Neurology, University of Athens, Medical School, Aeginition Hospital; Department of Neurology, G.
Gennimatas General Hospital of Athens, Athens, Greece.
2
Department of Neurology, G. Gennimatas General Hospital of Athens, Athens, Greece.
3
Department of Medical Genetics, Athens University, Aghia Sophia Children's Hospital, Athens, Greece.
4
First Department of Neurology, University of Athens, Medical School, Aeginition Hospital, Athens, Greece.
40. Clin Neurol Neurosurg. 2016 Aug 29;150:84-88. doi: 10.1016/j.clineuro.2016.08.020. [Epub ahead of print]
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study.
1
1
2
1
3
3
4
Bombelli F , Lispi L , Porrini SC , Giacanelli M , Terracciano C , Massa R , Petrucci A .
1
Neuromuscular and Neurological Rare Diseases Centre, Neurology and Neurophysiology Unit, S. Camillo Forlanini
Hospital, C. Gianicolense, 87-00152, Rome, Italy.
2
Medical Genetics Unit, S. Camillo Forlanini Hospital, C. Gianicolense, 87-00152, Rome, Italy.
3
Neuromuscular Centre, Neuroscience, Department of Systems Medicine, University of Rome Tor Vergata, V.le Oxford,
81-00133, Rome, Italy.
4
Neuromuscular and Neurological Rare Diseases Centre, Neurology and Neurophysiology Unit, S. Camillo Forlanini
Hospital, C. Gianicolense, 87-00152, Rome, Italy. Electronic address: [email protected].
/2016
9
41. Indian J Ophthalmol. 2016 Jul;64(7):535-7. doi: 10.4103/0301-4738.190157.
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.
1
1
1
Kang MJ , Yim HB , Hwang HB .
1
Department of Ophthalmology and Visual Science, College of Medicine, Incheon St. Mary's Hospital, The Catholic
University of Korea, Incheon, Korea.
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva
42. Dis Model Mech. 2016 Sep 1;9(9):1067. doi: 10.1242/dmm.027573.
Correction: High-throughput screening for modulators of ACVR1 transcription: discovery of potential
therapeutics for fibrodysplasia ossificans progressiva.
Cappato S, Tonachini L, Giacopelli F, Tirone M, Galietta LJ, Sormani M, Giovenzana A, Spinelli AE, Canciani B, Brunelli
S, Ravazzolo R, Bocciardi R.
Erratum for
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia
ossificans progressiva. [Dis Model Mech. 2016]
Maladie de Pompe – Pompe’s disease
Late-onset Pompe disease in Iran, a clinical and genetic report.
1
1
2
1
3
4
5
6
Nazari F , Sinaei F , Nilipour Y , Fatehi F , Streubel B , Ashrafi MR , Aryani O , Nafissi S .
1
Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, IR, Iran.
2
Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, IR, Iran.
3
4
Department of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna, Austria.; Children's Medical
5
Center, School of Medicine, Tehran University of Medical Sciences, Tehran, IR, Iran.; Genetics Department, Special
6
Medical Center, Tehran, Iran.; Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical
Sciences, Tehran, IR, Iran. [email protected].
44. Neuromuscul Disord. 2016 Jul 19. pii: S0960-8966(16)30047-5. doi: 10.1016/j.nmd.2016.07.006. [Epub ahead
of print]
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease.
1
2
3
4
5
Gallay L , Petiot P , Durieu I , Streichenberger N , Berard F .
1
Department of Clinical Immunology, Edouard Herriot University Hospital, 5 place d'Arsonvaal, 69437 Lyon Cedex 03,
France; INMG, CNRS UMR 5310-INSERM U1217, University Lyon 1, France.
2
Department of Neurology, Croix-Rousse Hospital, Hospices Civils de Lyon, Claude Bernard University Lyon 1, Grande
rue de la croix rousse, 69004 Lyon, France.
3
Department of Internal and Vascular Medicine, Lyon Sud University Hospital, 69495 Pierre Bénite, France.
4
INMG, CNRS UMR 5310-INSERM U1217, University Lyon 1, France; Department of Neuropathology, Hospices Civils
de Lyon, Neurology and Neurosurgery Pierre Wertheimer University Hospital, Boulevard Pinel, 69500 Bron, France.
5
Department of Allergy and Clinical Immunology, Hospital Center Lyon Sud, 69495 Pierre Bénite, France; University
Lyon 1, France. Electronic address: [email protected].
A Senile Case of Late-onset Pompe's Disease.
1
Takano H , Ishihara T, Kosuga M, Okuyama T.
1
Neurology Service, Tachikawa General Hospital, Japan.
46. Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75.
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of
Antisense Oligonucleotides.
1,2,3
1,2,3
4
2,3
1,2,3
Bergsma AJ , In 't Groen SL , Verheijen FW , van der Ploeg AT , Pijnappel WP .
1
Department of Clinical Genetics, Molecular Stem Cell Biology, Erasmus Medical Center, Rotterdam, The Netherlands.
2
Department of Pediatrics, Erasmus Medical Center, Rotterdam, The Netherlands.
3
Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands.
4
Department of Clinical Genetics, Molecular Diagnostics, Erasmus Medical Center, Rotterdam, The Netherlands.
/2016
10
47. Physiol Genomics. 2016 Sep 9:physiolgenomics.00075.2016. doi: 10.1152/physiolgenomics.00075.2016.
[Epub ahead of print]
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
1
2
2
3
Turner SM , Falk DJ , Byrne BJ , Fuller DD .
1
University of Wisconsin-Madison.
2
University of Florida.
3
University of Florida, McKnight Brain Institute [email protected].
Myasthénie autoimmune– Myasthenia Gravis
48. J Clin Neurophysiol. 2016 Mar 31. [Epub ahead of print]
Diagnostic Accuracy of Single Fiber EMG for Myasthenia Gravis in Patients Followed Longitudinally.
1
Morren JA , Levin KH, Shields RW.
1
1Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.2Neuromuscular Center, Neurological
Institute, Cleveland Clinic, Cleveland, Ohio.3Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland,
Ohio.4Clinical Assistant Professor of Medicine (Neurology), Cleveland Clinic Lerner College of Medicine of Case
Western Reserve University.
Prevalence and clinical aspects of immigrants with Myasthenia Gravis in northern Europe.
1,2
3
3,4
5
5
5
5
3,6
Boldingh M , Maniaol A , Brunborg C , Dekker L , Lipka A , Niks E , Verschuuren J , Tallaksen C .
1
Department of Neurology, Oslo University Hospital, Oslo, Norway. [email protected].
2
Institute of Clinical Medicine, University of Oslo, Oslo, Norway. [email protected].
3
Department of Neurology, Oslo University Hospital, Oslo, Norway.
4
Oslo Centre for Biostatistics and Epidemiology, Research Support Services, Oslo University Hospital, Oslo, Norway.
5
Department of Neurology, Leiden University Medical Centre, The Netherlands.
6
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Multiethnic studies can provide etiological clues towards the genetic and environmental influence of a disease. The aim
of this study was to determine prevalence and clinical features of myasthenia gravis (MG) in immigrants compared to
native patients in 2 population-based cohorts.
50. J Anaesthesiol Clin Pharmacol. 2016 Jul-Sep;32(3):389-91. doi: 10.4103/0970-9185.168207.
Anesthetic management of robot-assisted thoracoscopic thymectomy.
1
1
1
1
Karlekar A , Dutta D , Saxena R , Sharma KK .
1
Department of Anaesthesiology and Intensive Care, Fortis Escorts Heart Institute, New Delhi, India.
51. BMC Neurol. 2016 Sep 13;16(1):172. doi: 10.1186/s12883-016-0697-x.
A case of late-onset, thymoma-associated myasthenia gravis with ryanodine receptor and titin antibodies and
concomitant granulomatous myositis.
1
2
2
3
4
5,6
Stefanou MI , Komorowski L , Kade S , Bornemann A , Ziemann U , Synofzik M .
1
Department of Neurovascular Diseases, Hertie Institute for Clinical Brain Research & Center for Neurology, Tuebingen,
Germany. [email protected].
2
Institute for Experimental Immunology, Affiliated to Euroimmun AG, Luebeck, Germany.
3
Department of Neuropathology, University of Tuebingen, Tuebingen, Germany.
4
Department of Neurovascular Diseases, Hertie Institute for Clinical Brain Research & Center for Neurology, Tuebingen,
Germany.
5
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center for Neurology,
Tuebingen, Germany.
6
Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Tuebingen, Germany.
52. Mymensingh Med J. 2016 Jul;25(3):536-41.
Outcome of Extended Thymectomy in Myasthenia Crisis Patient.
1
Aftabuddin M , Bhandari S.
Author information
/2016
11
1
Professor Dr Md Aftabuddin, Professor & Chairman, Department of Cardiac Surgery, Bangabandhu Sheikh Mujib
Medical University, Dhaka, Bangladesh.
53. Transfusion. 2016 Sep 9. doi: 10.1111/trf.13821. [Epub ahead of print]
Extracorporeal photopheresis did not prevent the development of an autoimmune disease: myasthenia gravis.
1
2
2
3
4
5
6
Uygun V , Daloğlu H , Öztürkmen SI , Döşemeci L , Karasu G , Hazar V , Yeşilipek A .
1
Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Bahçeşehir University.
[email protected].
2
Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Antalya, Turkey.
3
Intensive Care Unit, Istanbul Kemerburgaz University Faculty of Medicine.
4
Pediatric Bone Marrow Transplantation Unit, Medical Park Göztepe Hospital, Bahçeşehir University.
5
Pediatric Hematology and Oncology and Bone Marrow Transplantation Unit, Medipol University Faculty of Medicine,
Istanbul, Turkey.
6
Pediatric Bone Marrow Transplantation Unit, Medical Park Antalya Hospital, Bahçeşehir University.
54. Case Rep Neurol Med. 2016;2016:6297656. doi: 10.1155/2016/6297656. Epub 2016 Aug 17.
Colon Adenoma Implicating Myasthenia Gravis: A Case Report of a Patient with Postcolectomy Complications.
1
1
1
1
1
1
1
1
Papachatzakis Y , Tseliou E , Tatouli I , Dialoupi I , Michas F , Papadopoulou E , Kousouris D , Kontogiannis S ,
1
Dimopoulos MA .
1
Advanced Care Unit, Department of Therapeutics, Alexandra Hospital, University of Athens, Greece.
55. J Neuroimmunol. 2016 Sep 15;298:138-45. doi: 10.1016/j.jneuroim.2016.07.016. Epub 2016 Jul 20.
Astilbin ameliorates experimental autoimmune myasthenia gravis by decreased Th17 cytokines and upregulated T regulatory cells.
1
2
3
3
3
4
3
3
3
3
3
Meng QF , Zhang Z , Wang YJ , Chen W , Li FF , Yue LT , Zhang CJ , Li H , Zhang M , Wang CC , Zhang P , Chen
3
3
5
6
H , Duan RS , Sun SM , Li YB .
1
Department of Neurology, The Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan
250001, PR China.
2
Department of Emergency, The Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine,
Jinan 250001, PR China.
3
Department of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan 250014, PR China.
4
Central Laboratory, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan 250014, PR China.
5
Department of Traditional Chinese Medicine, Shandong Provincial Qianfoshan Hospital, Jinan 250014, PR China.
6
Department of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan 250014, PR China.
Therapeutic target of memory B cells depletion helps to tailor administration frequency of rituximab in
myasthenia gravis.
1
2
2
2
3
2
3
Lebrun C , Bourg V , Bresch S , Cohen M , Rosenthal-Allieri MA , Desnuelle C , Ticchioni M .
1
Service de Neurologie, Hôpital Pasteur 2, 30 voie Romaine, 06002 Nice, France. Electronic address: [email protected].
2
Service de Neurologie, Hôpital Pasteur 2, 30 voie Romaine, 06002 Nice, France.
3
Service d'Immunologie, Hôpital de l'Archet 1, Avenue saint Antoine de Ginestière, 06000 Nice, France.
Thymus involvement in myasthenia gravis: Epidemiological and clinical impacts of different self-tolerance
breakdown mechanisms.
1
2
3
4
5
Karni A , Asmail A , Drory VE , Kolb H , Kesler A .
1
Neuroimmunology Clinic, Tel Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv
University, Tel Aviv, Israel. Electronic address: [email protected].
2
3
Neuromuscular Service of the Department of Neurology, Tel Aviv Sourasky Medical Center, affiliated to the Sackler
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: [email protected].
4
/2016
12
5
Neuro-ophtalmology Unit of the Department of Ophthalmology, Tel Aviv Sourasky Medical Center, affiliated to the
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: [email protected].
Autoantibody profile and clinical characteristics in a cohort of Chinese adult myasthenia gravis patients.
1
2
3
4
5
6
6
3
7
Hong Y , Li HF , Skeie GO , Romi F , Hao HJ , Zhang X , Gao X , Owe JF , Gilhus NE .
1
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
2
Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.
3
Department of Neurology, Haukeland University Hospital, Bergen, Norway.
4
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Neurology, Haukeland
University Hospital, Bergen, Norway.
5
Department of Neurology, Peking University First Hospital, Beijing, China.
6
Department of Neurology, Affiliated Hospital of Qingdao University, Qingdao, China.
7
Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Neurology, Haukeland
University Hospital, Bergen, Norway. Electronic address: [email protected].
Myopathies congénitales – Congenital Myopathies
59. J Anesth. 2016 Sep 19. [Epub ahead of print]
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline
myopathy: a case report.
1
2
3
3
Hino H , Suzuki Y , Ishii E , Fukuda M .
1
Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, 791-0295, Japan.
[email protected].
2
Department of Pediatrics, Matsuyama Red Cross Hospital, Matsuyama, Ehime, Japan.
3
Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, 791-0295, Japan.
Myopathies liées à TRPV4 – TRPV4 related myopathies
of print]
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016
Naarden, The Netherlands.
1
2
3
4
Richard I , Laurent JP , Cirak S , Vissing J ; ENMC FKRP Study Group.
Collaborators (20)
1
2
3
4
5
1
6
7
1
1
Brown S , Campbell K , Cirak S , Gicquel E , Hogrel JY , Honnet G , Koelma N , Laurent JP , Mathews K , Muntoni F ,
8
1
9
1
1
1
10
11
12
Quijano-Roy S , Richard I , Robertson A , Stevenson H , Stojkovic T , Straub V , Topaloglu H , Vajsar J , Vissing J ,
13
Walter M .
1
INSERM, U951, INTEGRARE Research Unit, Evry, F-91002, France; Généthon, Evry, F-91002, France. Electronic
address: [email protected].
2
LGMD2i Fund, Seattle, WA, USA.
3
Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany; Department of Pediatrics,
University Hospital Cologne, 50931 Cologne, Germany; Center for Molecular Medicine, 50931 Cologne, Germany.
4
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen,
Copenhagen, Denmark.
Myopathies inflammatoires - Inflammatory myopathies
61. Ann Rheum Dis. 2016 Sep 20. pii: annrheumdis-2016-210198. doi: 10.1136/annrheumdis-2016-210198. [Epub
ahead of print]
Thigh muscle MRI in immune-mediated necrotising myopathy: extensive oedema, early muscle damage and role
of anti-SRP autoantibodies as a marker of severity.
1
2
2
2
2
2
2
2
Pinal-Fernandez I , Casal-Dominguez M , Carrino JA , Lahouti AH , Basharat P , Albayda J , Paik JJ , Ahlawat S ,
2
2
3
2
Danoff SK , Lloyd TE , Mammen AL , Christopher-Stine L .
1
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland,
USA.
/2016
13
2
Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland,
USA Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
3
62. Br J Dermatol. 2016 Oct;175(4):665-6. doi: 10.1111/bjd.14917.
Juvenile dermatomyositis: new clinical trial evidence to underpin therapeutic shared decision making.
1
2
2,3
Owen ED , Choy EH , Piguet V .
1
University Hospital of Wales, Heath Park, Cardiff, Wales, U.K.. [email protected].
2
University Hospital of Wales, Heath Park, Cardiff, Wales, U.K.
3
Division of Infection & Immunity, School of Medicine, Dermatology & Academic Wound Healing, College of Biomedical
and Life Sciences, Cardiff University, Cardiff, Wales, U.K.
Editorial
63. Case Rep Rheumatol. 2016;2016:9068061. doi: 10.1155/2016/9068061. Epub 2016 Aug 23.
Repository Corticotropin Injection for Treatment of Idiopathic Inflammatory Myopathies.
1
2
3
Patel A , Seely G , Aggarwal R .
1
Arthritis and Osteoporosis Center of Richmond, 9600 Patterson Avenue, Richmond, VA 23229, USA; Department of
Pediatrics, University of Virginia Children's Hospital, Box 800386, Charlottesville, VA 22908, USA.
2
Dermatology Associates of Virginia, P.C., 10800 Midlothian Turnpike, Suite 309, Richmond, VA 23226, USA.
3
Division of Rheumatology and Clinical Immunology, University of Pittsburgh, BST S725, 3500 Terrace Street,
Pittsburgh, PA 15217, USA.
64. Semin Arthritis Rheum. 2016 Aug 17. pii: S0049-0172(16)30200-1. doi: 10.1016/j.semarthrit.2016.08.009.
[Epub ahead of print]
A case of refractory dermatomyositis responsive to tofacitinib.
1
2
Paik JJ , Christopher-Stine L .
1
Johns Hopkins Myositis Center, Baltimore, MD. Electronic address: [email protected].
2
Johns Hopkins Myositis Center, Baltimore, MD.
LETTER
Gene Expression Profile of Inflammatory Myopathy with Malignancy is Similar to that of Dermatomyositis rather
than Polymyositis.
1
Noda T , Iijima M, Noda S, Maeshima S, Nakanishi H, Kimura S, Koike H, Ishigaki S, Iguchi Y, Katsuno M, Sobue G.
1
Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
Transforming growth factor-β signaling is upregulated in sporadic inclusion body myositis.
1
1
1,2
1
1
3
1
1
4,5
Noda S , Koike H , Maeshima S , Nakanishi H , Iijima M , Matsuo K , Kimura S , Katsuno M , Sobue G .
1
Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
2
3
Department of Neurology, Nagoya Ekisaikai Hospital, Japan.; Department of Neurology, Kariya Toyota General
4
Hospital, Japan.; Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
5
[email protected].; Research Division of Dementia and Neurodegenerative Disease, Nagoya University
Graduate School of Medicine, Japan. [email protected].
67. Pediatr Rheumatol Online J. 2016 Sep 13;14(1):52. doi: 10.1186/s12969-016-0112-6.
Treatment with high-dose recombinant human hyaluronidase-facilitated subcutaneous immune globulins in
patients with juvenile dermatomyositis who are intolerant to intravenous immune globulins: a report of 5 cases.
1
1
2
Speth F , Haas JP , Hinze CH .
1
Deutsches Zentrum für Kinder- und Jugendrheumatologie, Garmisch-Partenkirchen, Germany.
2
Klinik für Pädiatrische Rheumatologie und Immunologie, Universitätsklinikum Münster, Münster, Germany.
[email protected].
/2016
14
68. Arch Pediatr. 2016 Sep 9. pii: S0929-693X(16)30326-8. doi: 10.1016/j.arcped.2016.07.005. [Epub ahead of
print]
[Juvenile dermatomyositis: Early onset and unusual presentation].
[Article in French]
1
2
3
Rachadi H , Bouayad K , Chiheb S .
1
Service de dermatologie-vénérologie, CHU Ibn Rochd, 1, rue Lahcen-Elaarjoun, quartier des hôpitaux, 20000
Casablanca, Maroc. Electronic address: [email protected].
2
Service de pédiatrie 5, hôpital d'enfants, CHU Ibn Rochd, 6, rue Lahssen-Elaarjoun, quartier des hôpitaux, 20000
Casablanca, Maroc.
3
Service de dermatologie-vénérologie, CHU Ibn Rochd, 1, rue Lahcen-Elaarjoun, quartier des hôpitaux, 20000
Casablanca, Maroc.
Juvenile dermatomyositis (JDM) is a rare disease, with a mean age of onset of 7 years. We report a case of JDM in a
13-month-old infant.
69. Rev Neurol (Paris). 2016 Sep 8. pii: S0035-3787(16)30130-8. doi: 10.1016/j.neurol.2016.07.016. [Epub ahead
of print]
Sporadic inclusion-body myositis: Recent advances and the state of the art in 2016.
1
2
Gallay L , Petiot P .
1
Croix-Rousse University Hospital, Department of neurology, 103, grande rue de la Croix-Rousse, 69004 Lyon, France.
2
Croix-Rousse University Hospital, Department of neurology, 103, grande rue de la Croix-Rousse, 69004 Lyon, France.
70. Rev Med Interne. 2016 Sep 8. pii: S0248-8663(16)30479-9. doi: 10.1016/j.revmed.2016.08.004. [Epub ahead
of print]
[Usefulness of rehabilitation in inflammatory myopathies].
[Article in French]
1
2
Moyon Q , Benveniste O .
1
DHUI2B, UMR974, UPMC, département de médecine interne et immunologie clinique, groupe hospitalier PitiéSalpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
2
DHUI2B, UMR974, UPMC, département de médecine interne et immunologie clinique, groupe hospitalier PitiéSalpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: [email protected].
71. Reumatol Clin. 2016 Sep 5. pii: S1699-258X(16)30091-2. doi: 10.1016/j.reuma.2016.07.010. [Epub ahead of
print]
Multicenter Registry on Inflammatory Myositis From the Rheumatology Society in Madrid, Spain: Descriptive
Analysis.
[Article in English, Spanish]
1
2
2
3
3
4
4
5
Nuño L , Joven B , Carreira P , Maldonado V , Larena C , Llorente I , Tomero E , Barbadillo MC , García-de la Peña
6
7
7
8
8
9
10
11
12
P , Ruiz L , López-Robledillo JC , Moruno H , Pérez A , Cobo-Ibáñez T , Almodóvar R , Lojo L , Monteagudo I ,
13
12
García-De Yébenes MJ , López-Longo FJ .
1
Servicio de Reumatología, Hospital La Paz, Madrid, España. Electronic address: [email protected].
2
Servicio de Reumatología, Hospital Doce de Octubre, Madrid, España.
3
Servicio de Reumatología, Hospital Ramón y Cajal, Madrid, España.
4
Servicio de Reumatología, Hospital La Princesa, Madrid, España.
5
Servicio de Reumatología, Hospital Puerta de Hierro, Madrid, España.
6
Servicio de Reumatología, Hospital Madrid Norte Sanchinarro, Madrid, España.
7
Servicio de Reumatología, Hospital Infantil Niño Jesús, Madrid, España.
8
Servicio de Reumatología, Hospital Príncipe de Asturias, Madrid, España.
9
Servicio de Reumatología, Hospital Infanta Sofía, Madrid, España.
10
Servicio de Reumatología, Hospital Fundación Alcorcón, Madrid, España.
11
Servicio de Reumatología, Hospital Infanta Leonor, Madrid, España.
12
Servicio de Reumatología, Hospital Gregorio Marañón, Madrid, España.
13
Instituto de Salud Musculoesquelética, Madrid, España.
/2016
15
72. Curr Opin Rheumatol. 2016 Nov;28(6):619-24. doi: 10.1097/BOR.0000000000000335.
Spectrum of immune-mediated necrotizing myopathies and their treatments.
1
Pinal-Fernandez I , Mammen AL.
1
aNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda bJohns
Hopkins University School of Medicine, Baltimore, Maryland, USA.
73. Acta Reumatol Port. 2016 Apr-Jun;41(2):162-4.
Juvenile dermatomyositis with anti-signal recognition particle antibodies: a case report.
Almeida S, Braga M, Santos MJ.
74. Sci Rep. 2016 Sep 8;6:32818. doi: 10.1038/srep32818.
Transcriptomic profiling of long non-coding RNAs in dermatomyositis by microarray analysis.
1
1
1
1
1
1
Peng QL , Zhang YM , Yang HB , Shu XM , Lu X , Wang GC .
1
Department of Rheumatology, China-Japan Friendship Hospital, Beijing, China.
Myopathies métaboliques - Metabolic myopathies
75. Tohoku J Exp Med. 2016;240(2):113-22. doi: 10.1620/tjem.240.113.
Activation of PPARα by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
1
Yang Y , Feng Y, Zhang X, Nakajima T, Tanaka N, Sugiyama E, Kamijo Y, Aoyama T.
1
Department of Metabolic Regulation, Shinshu University Graduate School of Medicine.
First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L.
1
Shima A , Yasuno T, Yamada K, Yamaguchi M, Kohno R, Yamaguchi S, Kido H, Fukuda H.
1
Department of Neurology, Saiseikai Noe Hospital, Japan.
of print]
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
1
2
Koo B , Oskarsson B .
1
Department of Neurology, University of Washington, 1959 NE Pacific Street Box 356465, Seattle, WA 98195, USA.
2
Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Rd S, Jacksonville, FL 32224, USA.
Myopathies mitochondriales – Mitochondrial myopathies
78. EMBO Mol Med. 2016 Sep 19. pii: e201606592. doi: 10.15252/emmm.201606592. [Epub ahead of print]
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients.
1
2
1
3
4
1
5
6
6
Ahola S , Auranen M , Isohanni P , Niemisalo S , Urho N , Buzkova J , Velagapudi V , Lundbom N , Hakkarainen A ,
7
7
8
9
Muurinen T , Piirilä P , Pietiläinen KH , Suomalainen A .
1
Research Program of Molecular Neurology, Biomedicum Helsinki University of Helsinki, Helsinki, Finland.
2
Research Program of Molecular Neurology, Biomedicum Helsinki University of Helsinki, Helsinki, Finland Clinical
Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
3
Obesity Research Unit, Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.
4
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
5
Metabolomics Unit, Institute for Molecular Medicine Finland FIMM University of Helsinki, Helsinki, Finland.
6
Department of Radiology, University of Helsinki and HUS Radiology Helsinki Medical Imaging Center, Helsinki, Finland.
7
Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University
Hospitals, Helsinki, Finland.
8
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland Department
of Medicine, Division of Endocrinology, Helsinki University Central Hospital, Helsinki, Finland.
/2016
16
9
Research Program of Molecular Neurology, Biomedicum Helsinki University of Helsinki, Helsinki, Finland Clinical
Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland Neuroscience
Center, University of Helsinki, Helsinki, Finland [email protected].
79. Rev Med Interne. 2016 Sep 9. pii: S0248-8663(16)30440-4. doi: 10.1016/j.revmed.2016.06.007. [Epub ahead
of print]
[Sweet heart. Hypertrophic cardiomyopathy in a 49-year-old man].
[Article in French]
1
1
2
2
3
3
1
1
4
1
Benyamine A , Riccardi F , Coze S , Jacquier A , Chaussenot A , Paquis V , Sallée M , Aissi K , Thuny F , Frances Y ,
5
6
7
8
9
9
Granel B , Bauvois A , Malezieux-Picard A , Mourguet M , Murarasu A , Saada N .
1
Service de médecine interne, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
2
Service de radiologie, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
3
Service de génétique médicale, centre de référence des pathologies mitochondriales Sud Méditerranée, hôpital de
l'Archet2, 151, route de Saint-Antoine-de-Ginestière, BP 3079, 06202 Nice cedex 3, France.
4
Service de cardiologie, hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
5
Service de médecine interne, hôpital Nord, chemin des Bourrely, 13015 Marseille, France. Electronic address:
[email protected].
6
Service de médecine interne, CHU Bretonneau, 2, boulevard Tonnellé, 37000 Tours, France.
7
Service de médecine interne, hôpital Archet 1, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06200
Nice, France.
8
Médecine interne et immunopathologie clinique, institut universitaire du cancer Toulouse, Oncopole, 1, avenue IrèneJoliot-Curie, 31059 Toulouse, France.
9
Réanimation médico-chirurgicale, hôpital Avicenne, 125, rue de Stalingrad, 93000 Bobigny, France.
80. Epileptic Disord. 2016 Sep 12. [Epub ahead of print]
Myoclonic epilepsy in mitochondrial disorders.
1
2
Lamperti C , Zeviani M .
1
Unit of Molecular Neurogenetics, The Carlo Besta Institute of Neurology, Milan, Italy.
2
MRC-Mitochondrial Biology Unit, Cambridge, United Kingdom.
of print]
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
1
1
2
3
4
5
6
7
8
9
Ng YS , Hardy SA , Shrier V , Quaghebeur G , Mole DR , Daniels MJ , Downes SM , Freebody J , Fratter C , Hofer M ,
10
2
11
Nemeth AH , Poulton J , Taylor RW .
1
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon
Tyne, UK.
2
Nuffield Department of Obstetrics and Gynaecology, Women's Centre, Oxford, UK.
3
Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
4
Oxford Kidney Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
5
Division of Cardiovascular Medicine, BHF Oxbridge Centre of Regenerative Medicine, Oxford University, Oxford, UK.
6
Oxford Eye Hospital, Oxford, UK.
7
Neurosciences Offices, Level 3 West Wing, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust,
Oxford, UK.
8
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK.
9
Neuropathology and Ocular Pathology Department, John Radcliffe Hospital, Oxford, UK.
10
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Churchill Hospital, Oxford, UK.
11
Tyne, UK. Electronic address: [email protected].
/2016
17
Myopathies myofibrillaires – Myofibrillar myopathies
of print]
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual
histopathological features due to a novel missense mutation in FLNC.
1
1
2
2
3
4
1
1
Avila-Smirnow D , Gueneau L , Batonnet-Pichon S , Delort F , Bécane HM , Claeys K , Beuvin M , Goudeau B , Jais
5
1
6
7
8
9
10
7
11
11
JP , Nelson I , Richard P , Ben Yaou R , Romero NB , Wahbi K , Mathis S , Voit T , Furst D , van der Ven P , Gil
10
2
4
1
12
R , Vicart P , Fardeau M , Bonne G , Behin A .
1
Sorbonne universités, UPMC Paris 06, center of research in myology, Inserm UMRS974, CNRS FRE3617, 75013
Paris, France.
2
Sorbonne Paris Cité, université Paris Diderot, CNRS, unité de biologie fonctionnelle et adaptative, UMR 8251, 75013
Paris, France.
3
AP-HP, groupe hospitalier Pitié-Salpêtrière, institut de myologie, centre de référence de pathologie neuromusculaire
Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
4
Groupe hospitalier Pitié-Salpêtrière, association institut de myologie, unité de morphologie neuromusculaire, 75013
Paris, France.
5
GH Necker Enfants-Malades, université Paris Descartes, faculté de médecine, biostatistique et informatique médicale,
EA 4067, 75015 Paris, France.
6
AP-HP, groupe hospitalier Pitié-Salpêtrière, service de biochimie métabolique, U.F. cardiogénétique et myogénétique,
75013 Paris, France.
7
Paris, France; AP-HP, groupe hospitalier Pitié-Salpêtrière, institut de myologie, centre de référence de pathologie
neuromusculaire Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
8
Paris, France; Groupe hospitalier Pitié-Salpêtrière, association institut de myologie, unité de morphologie
neuromusculaire, 75013 Paris, France.
9
neuromusculaire Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France; AP-HP, groupe hospitalier Cochin-BrocaHôtel Dieu, service de cardiologie, 75013 Paris, France.
10
CHU de la Milétrie, service de neurologie, 86021 Poitiers, France.
11
University of Bonn, institute for cell biology, department of molecular cell biology, Bonn, Germany.
12
Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: [email protected].
of print]
Mitochondrial dysfunction in myofibrillar myopathy.
1
1
1
1
1
2
1
3
Vincent AE , Grady JP , Rocha MC , Alston CL , Rygiel KA , Barresi R , Taylor RW , Turnbull DM .
1
Tyne, NE2 4HH, UK.
2
Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Newcastle upon
Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4AZ, UK.
3
Tyne, NE2 4HH, UK. Electronic address: [email protected].
Myotonies congénitales –Myotonia congenita
of print]
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two
presumable endemic regions.
1
2
3
4
3
5
2
6
Tincheva S , Georgieva B , Todorov T , Savov A , Tsaneva S , Litvinenko I , Mitev V , Todorova A .
1
Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 Zdrave Str., Sofia, Bulgaria; Genetic
Medico-Diagnostic Laboratory "Genica", 90 Tsar Asen Str., Sofia, Bulgaria. Electronic address:
[email protected].
2
Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 Zdrave Str., Sofia, Bulgaria.
3
Genetic Medico-Diagnostic Laboratory "Genica", 90 Tsar Asen Str., Sofia, Bulgaria.
/2016
18
4
Department of Obstetrics and Gynecology, Faculty of Medicine, National Genetic Laboratory, Medical University Sofia,
2 Zdrave Str., Sofia, Bulgaria.
5
Department of Neurology, University Pediatric Hospital, Medical University, 11 Acad. Ivan Evstatiev Geshov Str., Sofia,
Bulgaria.
6
Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 Zdrave Str., Sofia, Bulgaria; Genetic
Medico-Diagnostic Laboratory "Genica", 90 Tsar Asen Str., Sofia, Bulgaria.
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome
of print]
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE
1267delG mutation. A long-term follow-up.
1
2
3
4
4
3
2
4
Natera-de Benito D , Domínguez-Carral J , Muelas N , Nascimento A , Ortez C , Jaijo T , Arteaga R , Colomer J ,
3
Vilchez JJ .
1
Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. Electronic address:
[email protected].
2
Department of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
3
Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.
4
Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
Dystrophies musculaires (plusieurs pathologies) - Muscular dystrophies (several diseases)
86. Eur Rev Med Pharmacol Sci. 2016 Sep;20(17):3683-7.
Dystroglycan induced muscular dystrophies - a review.
1
Zhang QZ .
1
Department of Neurology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
[email protected].
87. Cell Stem Cell. 2016 Sep 7. pii: S1934-5909(16)30253-3. doi: 10.1016/j.stem.2016.08.006. [Epub ahead of
print]
CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular
Dystrophies.
1
2
3
1
2
1
4
4
2
Alexander MS , Rozkalne A , Colletta A , Spinazzola JM , Johnson S , Rahimov F , Meng H , Lawlor MW , Estrella E ,
5
6
Kunkel LM , Gussoni E .
1
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Stem Cell Program at
Boston Children's Hospital, Boston, MA 02115, USA.
2
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
3
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Boston University School of
Medicine, Boston, MA 02215, USA.
4
Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin,
Milwaukee, WI 53226, USA.
5
Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston
Children's Hospital, Boston, MA 02115, USA.
6
Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: [email protected].
88. Proc Natl Acad Sci U S A. 2016 Sep 13. pii: 201605265. [Epub ahead of print]
Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal
muscle.
1
1
1
1
2
1
1
1
3
3
Rader EP , Turk R , Willer T , Beltrán D , Inamori KI , Peterson TA , Engle J , Prouty S , Matsumura K , Saito F ,
1
4
Anderson ME , Campbell KP .
1
Howard Hughes Medical Institute, The University of Iowa, Iowa City, IA 52242; Department of Molecular Physiology and
Biophysics, The University of Iowa, Iowa City, IA 52242; Department of Neurology, The University of Iowa, Iowa City, IA
52242; Department of Internal Medicine, The University of Iowa, Iowa City, IA 52242;
2
52242; Department of Internal Medicine, The University of Iowa, Iowa City, IA 52242; Division of Glycopathology,
/2016
19
Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi
981-8558, Japan;
3
Department of Neurology, Teikyo University School of Medicine, Itabashi-ku, Tokoyo 173-8605, Japan.
4
52242; Department of Internal Medicine, The University of Iowa, Iowa City, IA 52242; [email protected].
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
89. Skelet Muscle. 2016 Sep 15;6:32. doi: 10.1186/s13395-016-0103-9. eCollection 2016.
Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease.
1
2
2
2
2
Kim EY , Page P , Dellefave-Castillo LM , McNally EM , Wyatt EJ .
1
Molecular Pathogenesis and Molecular Medicine, The University of Chicago, Chicago, USA.
2
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, 303 E. Superior St., Chicago, IL
60611 USA.
90. Clin Case Rep. 2016 Aug 9;4(9):879-84. doi: 10.1002/ccr3.645. eCollection 2016.
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
1
1
2
1
1
Fernández RM , Peciña A , Muñoz-Cabello B , Antiñolo G , Borrego S .
1
Department of Genetics, Reproduction and Fetal MedicineInstitute of Biomedicine of Seville (IBIS)University Hospital
Virgen del Rocío/CSIC/University of SevilleSevilleSpain; Centre for Biomedical Network Research on Rare Diseases
(CIBERER)SevilleSpain.
2
Department of Pediatrics University Hospital Virgen del Rocío Seville Spain.
91. J Neurosci Methods. 2016 Sep 15. pii: S0165-0270(16)30200-X. doi: 10.1016/j.jneumeth.2016.09.003. [Epub
ahead of print]
A Novel Approach for Targeted Delivery to Motoneurons Using Cholera Toxin-B Modified Protocells.
1
2
1
3
4
5
Gonzalez Porras MA , Durfee PN , Gregory AM , Sieck GC , Brinker CJ , Mantilla CB .
1
Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, MN, United States.
2
Center for Micro-Engineered Materials, Advanced Materials, University of New Mexico, Albuquerque, New Mexico,
United States; Department of Chemical and Biological Engineering, University of New Mexico, Albuquerque, New
Mexico, United States.
3
Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, MN, United States; Department of
Anesthesiology, Mayo Clinic, Rochester, MN, United States.
4
Center for Micro-Engineered Materials, Advanced Materials, University of New Mexico, Albuquerque, New Mexico,
United States; Department of Chemical and Biological Engineering, University of New Mexico, Albuquerque, New
Mexico, United States; Advanced Materials Laboratory, Sandia National Laboratories, Albuquerque, New Mexico, United
States.
5
Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, MN, United States; Department of
Anesthesiology, Mayo Clinic, Rochester, MN, United States. Electronic address: [email protected].
92. J Obstet Gynaecol Can. 2016 Aug;38(8):763-787.e4. doi: 10.1016/j.jogc.2016.07.008.
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour
à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en
procréation, à l'ère des tests offerts directement aux consommateurs.
1
2
3
2
4
5
5
6
5
Wilson RD , De Bie I , Armour CM , Brown RN , Campagnolo C , Carroll JC , Okun N , Nelson T , Zwingerman R .
1
Calgary (Alb.).
2
Montréal (Qc).
3
Ottawa (Ont.).
4
London (Ont.).
5
Toronto (Ont.).
6
Vancouver (C.-B.).
/2016
20
93. J Obstet Gynaecol Can. 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008.
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers
of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
1
2
3
2
4
5
5
6
5
Wilson RD , De Bie I , Armour CM , Brown RN , Campagnolo C , Carroll JC , Okun N , Nelson T , Zwingerman R ,
2
7
2
4
5
2
1
5
1
Audibert F , Brock JA , Brown RN , Campagnolo C , Carroll JC , De Bie I , Johnson JA , Okun N , Pastruck M , Vallée2
8
5
9
5
2
10
5
2
Pouliot K , Wilson RD , Zwingerman R , Armour C , Chitayat D , De Bie I , Fernandez S , Kim R , Lavoie J , Leonard
11
6
11
6
6
N , Nelson T , Taylor S , Van Allen M , Van Karnebeek C .
1
Calgary AB.
2
Montréal QC.
3
Ottawa ON.
4
London ON.
5
Toronto ON.
6
Vancouver BC.
7
Halifax NS.
8
Calgary AB (chair).
9
Ottawa ON (chair).
10
St. John's NL.
11
Edmonton AB.
of print]
Myofibrillar and distal myopathies.
1
2
Palmio J , Udd B .
1
Tampere University and University Hospital, Neuromuscular Research Center, Neurology, 33014 Tampere, Finland.
2
Tampere University and University Hospital, Neuromuscular Research Center, Neurology, 33014 Tampere, Finland;
University of Helsinki, Haartman Institute, Folkhälsan Institute of Genetics and the Department of Medical Genetics,
Helsinki, Finland; Vasa Central Hospital, Department of Neurology, Vasa, Finland.
95. Interdiscip Sci. 2016 Sep 17. [Epub ahead of print]
A Novel Hybrid Feature Selection Model for Classification of Neuromuscular Dystrophies Using Bhattacharyya
Coefficient, Genetic Algorithm and Radial Basis Function Based Support Vector Machine.
1
2
3
Anand D , Pandey B , Pandey DK .
1
School of Computer Science and Engineering, Lovely Professional University, Chaheru, Punjab, India.
[email protected].
2
School of Computer Applications, Lovely Professional University, Chaheru, Punjab, India.
3
School of Biosciences, Lovely Professional University, Chaheru, Punjab, India.
Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.
1
2
3
4
Su X , Kang PB , Russell JA , Simmons Z .
1
Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
2
Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL, USA.
3
Section of Neurology, Lahey Hospital and Medical Center, Burlington, MA, USA.
4
Departments of Neurology and Humanities, Penn State Hershey Medical Center, Hershey, PA, USA.
[email protected].
97. J Clin Neurosci. 2016 Sep 6. pii: S0967-5868(16)30331-9. doi: 10.1016/j.jocn.2016.01.041. [Epub ahead of
print]
Skeletal muscle imaging in neuromuscular disease.
1
2
3
Simon NG , Noto YI , Zaidman CM .
1
St Vincent's Clinical School, University of New South Wales, Level 5 deLacy Building, St Vincent's Hospital, Victoria
Street, Darlinghurst, NSW 2010, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW,
Australia. Electronic address: [email protected].
2
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan;
Brain and Mind Centre, Sydney Medical School, The University of Sydney, NSW, Australia.
3
Department of Neurology, Washington University in St. Louis, St Louis, MO, USA.
*
*
/2016
*
21
Le tri par spécialité ci-dessous reprend les mêmes références que celles présentées par maladies / References sorted
by medical specialty are the same as those sorted by diseases.
Cardiologie - Cardiology
Rev Neurol (Paris). 2016 Sep 12. pii: S0035-3787(16)30174-6. doi: 10.1016/j.neurol.2016.07.017. [Epub ahead of print]
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual
histopathological features due to a novel missense mutation in FLNC.
1
1
2
2
3
4
1
1
Avila-Smirnow D , Gueneau L , Batonnet-Pichon S , Delort F , Bécane HM , Claeys K , Beuvin M , Goudeau B , Jais
5
1
6
7
8
9
10
7
11
11
JP , Nelson I , Richard P , Ben Yaou R , Romero NB , Wahbi K , Mathis S , Voit T , Furst D , van der Ven P , Gil
10
2
4
1
12
R , Vicart P , Fardeau M , Bonne G , Behin A .
1
Paris, France.
2
Sorbonne Paris Cité, université Paris Diderot, CNRS, unité de biologie fonctionnelle et adaptative, UMR 8251, 75013
Paris, France.
3
Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
4
Groupe hospitalier Pitié-Salpêtrière, association institut de myologie, unité de morphologie neuromusculaire, 75013
Paris, France.
5
GH Necker Enfants-Malades, université Paris Descartes, faculté de médecine, biostatistique et informatique médicale,
EA 4067, 75015 Paris, France.
6
AP-HP, groupe hospitalier Pitié-Salpêtrière, service de biochimie métabolique, U.F. cardiogénétique et myogénétique,
75013 Paris, France.
7
neuromusculaire Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
8
Paris, France; Groupe hospitalier Pitié-Salpêtrière, association institut de myologie, unité de morphologie
neuromusculaire, 75013 Paris, France.
9
neuromusculaire Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France; AP-HP, groupe hospitalier Cochin-BrocaHôtel Dieu, service de cardiologie, 75013 Paris, France.
10
CHU de la Milétrie, service de neurologie, 86021 Poitiers, France.
11
University of Bonn, institute for cell biology, department of molecular cell biology, Bonn, Germany.
12
Paris-Est, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: [email protected].
Imagerie médicale - Medical Imaging
J Clin Neurosci. 2016 Sep 6. pii: S0967-5868(16)30331-9. doi: 10.1016/j.jocn.2016.01.041. [Epub ahead of print]
Skeletal muscle imaging in neuromuscular disease.
1
2
3
Simon NG , Noto YI , Zaidman CM .
1
St Vincent's Clinical School, University of New South Wales, Level 5 deLacy Building, St Vincent's Hospital, Victoria
Street, Darlinghurst, NSW 2010, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW,
Australia. Electronic address: [email protected].
2
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan;
Brain and Mind Centre, Sydney Medical School, The University of Sydney, NSW, Australia.
3
Department of Neurology, Washington University in St. Louis, St Louis, MO, USA.
Pneumologie - Pneumology
J Rehabil Med. 2016 Sep 16. doi: 10.2340/16501977-2144. [Epub ahead of print]
Active lung volume recruitment to preserve vital capacity in Duchenne muscular dystrophy.
1
Chiou M , Bach JR, Jethani L, Gallagher MF.
1
Department of Physical Medicine and Rehabilitation, Rutgers New Jersey Medical School, 07103 Newark, USA.
[email protected].
/2016
22
Médecine physique et de réadaptation - Physical and rehabilitation medicine
PLoS One. 2016 Sep 14;11(9):e0161984. doi: 10.1371/journal.pone.0161984. eCollection 2016.
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular
Dystrophy 2i.
1
2
3
1
Maricelli JW , Lu QL , Lin DC , Rodgers BD .
1
School of Molecular Biology, Washington Center for Muscle Biology, Washington State University, Pullman,
Washington, United States of America.
2
Department of Neurology, Carolinas Medical Center, Charlotte, North Carolina, United States of America.
3
Voiland School of Chemical Engineering and Bioengineering, Department of Integrative Physiology and Neuroscience,
Washington Center for Muscle Biology, Washington State University, Pullman, Washington, United States of America.
PLoS One. 2016 Sep 13;11(9):e0161938. doi: 10.1371/journal.pone.0161938. eCollection 2016.
Muscle Activation during Gait in Children with Duchenne Muscular Dystrophy.
1,2
2,3
4,5
6
1
7
8,9
10
Ropars J , Lempereur M , Vuillerot C , Tiffreau V , Peudenier S , Cuisset JM , Pereon Y , Leboeuf F , Delporte
11
12
7
2,3
L , Delpierre Y , Gross R , Brochard S .
1
CHRU de Brest, service de pédiatrie, Brest, France.
2
Laboratoire de Traitement de l'Information Médicale INSERM U1101, Brest, France.
3
CHRU de Brest, Service de Médecine Physique et Réadaptation, Brest, France.
4
L'Escale, service central de rééducation pédiatrique, Lyon, France.
5
CNRS, UMR 5558, Pierre-Bénite, France.
6
CHRU de Lille, Service de médecine physique et de réadaptation, Lille, France.
7
CHRU de Lille, service de neurologie pédiatrique, Lille, France.
8
Centre de Référence Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France.
9
Atlantic Gene Therapy Institute, Nantes, France.
10
CHU de Nantes, Pôle de Médecine Physique et Réadaptation, Nantes, France.
11
Plateforme « Mouvement et Handicap », Hospices Civils de Lyon, Bron, France.
12
Service de rééducation neurologique pédiatrique, centre de l'Arche, Le Mans, France.
Rev Med Interne. 2016 Sep 8. pii: S0248-8663(16)30479-9. doi: 10.1016/j.revmed.2016.08.004. [Epub ahead of print]
[Usefulness of rehabilitation in inflammatory myopathies].
[Article in French]
1
2
Moyon Q , Benveniste O .
1
DHUI2B, UMR974, UPMC, département de médecine interne et immunologie clinique, groupe hospitalier PitiéSalpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75013 Paris, France.
2
DHUI2B, UMR974, UPMC, département de médecine interne et immunologie clinique, groupe hospitalier PitiéSalpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75013 Paris, France. Electronic address: [email protected].
Ophtalmologie - Ophtalmology
Indian J Ophthalmol. 2016 Jul;64(7):535-7. doi: 10.4103/0301-4738.190157.
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.
1
1
1
Kang MJ , Yim HB , Hwang HB .
1
Department of Ophthalmology and Visual Science, College of Medicine, Incheon St. Mary's Hospital, The Catholic
University of Korea, Incheon, Korea.
/2016
23

Veille Neuromusculaire / Neuromuscular Alert

Transcription

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