Veille bibliographique sur les maladies

Transcription

Veille bibliographique
sur les maladies neuromusculaires
Bibliographic alert on neuromuscular disorders
n° 2015-07-1 du 2 au 20 juillet 2015 (July 2-20, 2015)
Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille bibliographique sur les maladies
neuromusculaires" contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par
cette veille est celle de la Fiche Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires"
publiée par l'AFM-Téléthon et mise à jour en octobre 2012.
 Vous trouverez les alertes précédentes sur notre portail documentaire dédié aux maladies neuromusculaires
Myobase
Every two weeks, you will find in the Bibliographic Alert on Neuromuscular Disorders 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
Amyotrophies spinales distales - Distal spinal muscular atrophies ......................................................... 2
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease .............................................................. 2
Dystrophies musculaires congénitales - Congenital muscular dystrophies ............................................ 5
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies .......................................... 5
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker Dystrophinopathies......................................................................................................................................... 5
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 9
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy (FSHD) . 9
Dystrophies myotoniques - Myotonic dystrophies ................................................................................... 10
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva .................................. 11
Maladie de Pompe – Pompe’s disease........................................................................................................ 12
Myasthénie autoimmune– Myasthenia Gravis ........................................................................................... 12
Myopathies congénitales – Congenital Myopathies .................................................................................. 15
Myopathies distales – Distal myopathies ................................................................................................... 15
Myopathies liées à la cavéoline 3 – CAV3 related myopathies ................................................................ 15
Myopathies liées à GNE – GNE myopathies ............................................................................................... 16
Myopathies inflammatoires - Inflammatory myopathies ........................................................................... 16
Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 18
Myopathies avec surcharge en filaments ou à inclusions –Myopathies with excess of filaments or
inclusions ....................................................................................................................................................... 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
Gastro-entérologie / Nutrition- Gastro-enterolgy / Nutrition..................................................................... 22
Pneumologie - Pneumology ......................................................................................................................... 22
Médecine physique et de réadaptation - Physical and rehabilitation medicine ..................................... 22
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA)
1. Ann N Y Acad Sci. 2015 Jul 14. doi: 10.1111/nyas.12813. [Epub ahead of print]
Developing therapies for spinal muscular atrophy.
1
1
Wertz MH , Sahin M .
1
The F.M. Kirby Neurobiology Center, Department of Neurology, Children's Hospital Boston, Harvard Medical School,
Boston, Massachusetts.
AFM-Téléthon>Myodoc – 21/07/2015
1
2. BMJ Case Rep. 2015 Jul 9;2015. pii: bcr2015209716. doi: 10.1136/bcr-2015-209716.
Intermittent daytime mouthpiece ventilation successfully augments nocturnal non-invasive ventilation,
controlling ventilatory failure and maintaining patient independence.
1
1
1
1
Ward K , Ford V , Ashcroft H , Parker R .
1
Liverpool Centre for Sleep and Ventilation, Aintree University Hospital, Liverpool, Merseyside, UK.
3. Exp Ther Med. 2015 Jun;9(6):2053-2058. Epub 2015 Apr 20.
Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.
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Contreras-Capetillo SN , Blanco HL , Cerda-Flores RM , Lugo-Trampe J , Torres-Muñoz I , Bravo-Oro A , Esmer C ,
2
DE Villarreal LE .
1
Department of Genetics, Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatan, Mérida,
Yucatán CP 97225, Mexico.
2
Department of Genetics, School of Medicine, Monterrey, Nuevo León CP 64460, Mexico.
3
School of Nursing, Autonomous University of Nuevo León, Monterrey, Nuevo León CP 64460, Mexico.
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Neuropediatrics, Central Hospital 'Dr. Ignacio Morones Prieto', San Luis Potosí CP 78240, Mexico.
5
Department of Genetics, Central Hospital 'Dr. Ignacio Morones Prieto', San Luis Potosí CP 78240, Mexico.
4. PLoS One. 2015 Jul 2;10(7):e0132364. doi: 10.1371/journal.pone.0132364. eCollection 2015.
Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.
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4
McGovern VL , Massoni-Laporte A , Wang X , Le TT , Le HT , Beattie CE , Rich MM , Burghes AH .
1
Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus,
Ohio, United States of America.
2
Department of Neuroscience, Cell Biology, and Physiology, Wright State University, Dayton, Ohio, United States of
America.
3
Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of
America.
4
Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus,
Ohio, United States of America; Department of Neurology, The Ohio State University Wexner Medical Center,
Columbus, Ohio, United States of America.
Amyotrophies spinales distales - Distal spinal muscular atrophies
5. Pan Afr Med J. 2015 Apr 16;20:380.
[Hirayama disease: report of four Tunisian cases and review of literature].
[Article in French]
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1
1
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2
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1
Amor SB , Hassine A , Chatti I , Khefifi A , Doggui M , Harzallah MS , Benammou S .
1
Service de Neurologie, Hôpital Sahloul, Sousse, Tunisie.
2
Service de Neurophysiologie, Hôpital Sahloul, Sousse, Tunisie.
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease
6. J Oral Maxillofac Surg. 2015 Jun 25. pii: S0278-2391(15)00897-6. doi: 10.1016/j.joms.2015.06.162. [Epub
ahead of print]
Anesthetic and Surgical Management of a Bilateral Mandible Fracture in a Patient With Charcot-Marie-Tooth
Disease: A Case Report.
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2
2
3
Smith JD , Minkin P , Lindsey S , Bovino B .
1
Resident, Department of Oral and Maxillofacial Surgery, Mt Sinai-St Luke's/Mt Sinai-Roosevelt Hospitals, New York,
NY. Electronic address: [email protected].
2
Resident, Department of Oral and Maxillofacial Surgery, Mt Sinai-St Luke's/Mt Sinai-Roosevelt Hospitals, New York,
NY.
3
Director, Department of Oral and Maxillofacial Surgery, Mt Sinai-St Luke's/Mt Sinai-Roosevelt Hospitals, New York, NY.
2
7. Case Rep Cardiol. 2015;2015:646890. doi: 10.1155/2015/646890. Epub 2015 Jun 9.
Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease.
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3
Eltawansy SA , Bakos A , Checton J .
1
Internal Medicine Department, Monmouth Medical Center, Long Branch, NJ 07740, USA.
2
Drexel University College of Medicine, Philadelphia, PA 19129, USA.
3
Internal Medicine Department, Monmouth Medical Center, Long Branch, NJ 07740, USA ; Cardiology Department,
Monmouth Medical Center, Long Branch, NJ 07740, USA.
8. Neurodiagn J. 2015 Jun;55(2):97-106.
Case Studies of Transcranial Electrical Motor Evoked Potentials (TCeMEP) on Patients with Charcot-MarieTooth Disease during Posterior Spinal Instrumentation and Fusion.
Schmidt R, Mani P, Weber D.
9. Neural Regen Res. 2015 Apr;10(4):659-66. doi: 10.4103/1673-5374.155444.
Connexin: a potential novel target for protecting the central nervous system?
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2
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1
Xie HY , Cui Y , Deng F , Feng JC .
1
Departmet of Neurology, the First Hospital of Jilin University, Changchun, Jilin Province, China.
2
Department of Neurosurgery, the First People's Hospital of Xianyang, Xianyang, Shaanxi Province, China.
10. J Neurol. 2015 Jul 11. [Epub ahead of print]
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a
patient with the R232C TRPV4 mutation.
1
Koutsis G , Lynch D, Manole A, Karadima G, Reilly MM, Houlden H, Panas M.
1
Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens Medical School, 74 Vas.
Sophias Ave., 11528, Athens, Greece, [email protected].
11. J Neurol Sci. 2015 Jun 27. pii: S0022-510X(15)00407-4. doi: 10.1016/j.jns.2015.06.056. [Epub ahead of print]
Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy
in NCCTG N08CA (Alliance).
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Boora GK , Kulkarni AA , Kanwar R , Beyerlein P , Qin R , Banck MS , Ruddy KJ , Pleticha J , Lynch CA , Behrens
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RJ , Züchner S , Loprinzi CL , Beutler AS .
1
Department of Oncology, Mayo Clinic, Rochester, MN, USA.
2
Department of Diagnostic Bioinformatics, Technische Hochschule Wildau, Wildau, Germany.
3
Alliance Statistics and Data Center, Mayo Clinic, Rochester, MN, USA.
4
Guthrie Corning Cancer Center, Sayre, PA, USA.
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Iowa Wide Oncology Research Coalition, Des Moines, IA, USA.
6
Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of
Miami, Miami, FL, USA.
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Department of Oncology, Mayo Clinic, Rochester, MN, USA. Electronic address: [email protected].
12. J Neurol Sci. 2015 May 29. pii: S0022-510X(15)00328-7. doi: 10.1016/j.jns.2015.05.033. [Epub ahead of print]
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
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Stuppia G , Rizzo F , Riboldi G , Del Bo R , Nizzardo M , Simone C , Comi GP , Bresolin N , Corti S .
1
Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of
Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122,
Milan, Italy.
2
Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of
Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122,
Milan, Italy. Electronic address: [email protected].
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13. J Biomed Sci. 2015 Jun 19;22(1):43. doi: 10.1186/s12929-015-0154-y.
Overexpression of mutant HSP27 causes axonal neuropathy in mice.
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Lee J , Jung SC , Joo J , Choi YR , Moon HW , Kwak G , Yeo HK , Lee JS , Ahn HJ , Jung N , Hwang S , Rheey J ,
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6,7
Woo SY , Kim JY , Hong YB , Choi BO .
1
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro,
Gangnam-gu, Seoul, 135-710, Korea.
2
Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea.
3
Samsung Biomedical Research Institute, Samsung Advanced Institute of Technology, Seoul, Korea.
4
Microbiology, Ewha Womans University School of Medicine, Seoul, Korea.
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Stem Cell & Regenerative Medicine Center, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710,
Korea. [email protected].
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Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro,
Gangnam-gu, Seoul, 135-710, Korea. [email protected].
7
Neuroscience center, Samsung Medical Center, Seoul, Korea. [email protected].
14. Nat Commun. 2015 Jul 3;6:7520. doi: 10.1038/ncomms8520.
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA
synthetases.
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Niehues S , Bussmann J , Steffes G , Erdmann I , Köhrer C , Sun L , Wagner M , Schäfer K , Wang G , Koerdt SN ,
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1
Stum M , RajBhandary UL , Thomas U , Aberle H , Burgess RW , Yang XL , Dieterich D , Storkebaum E .
1
1] Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, 48149 Münster, Germany [2]
Faculty of Medicine, University of Münster, 48149 Münster, Germany.
2
1] Research Group Neuralomics, Leibniz Institute for Neurobiology, 39118 Magdeburg, Germany [2] Institute for
Pharmacology and Toxicology, Otto-von-Guericke-University, 39120 Magdeburg, Germany.
3
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
4
The Scripps Research Institute, La Jolla, California 92037, USA.
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The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
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Department of Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology, 39118 Magdeburg, Germany.
7
Functional Cell Morphology Lab, Heinrich Heine University, 40225 Düsseldorf, Germany.
15. Neurology. 2015 Jul 1. pii: 10.1212/WNL.0000000000001747. [Epub ahead of print]
Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation.
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2
Shi CH , Song B , Luo HY , Mao CY , Shang DD , Cao Y , Sun SL , Wu J , Zhuang ZP , Xu YM .
1
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated
Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Zp.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD.
2
From the Department of Neurology (C-h.S., B.S., H-y.L., C-y.M., D-d.S., Y.C., S-l.S., J.W., Y-m.X.), The First Affiliated
Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China; and Surgical Neurology Branch (Zp.Z.), National Institute of Neurological Disorders and Stroke, Bethesda, MD. [email protected].
16. J Theor Biol. 2015 Jun 30;382:23-33. doi: 10.1016/j.jtbi.2015.06.019. [Epub ahead of print]
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A
molecular modeling and dynamics.
1
2
Agrahari A , George Priya Doss C .
1
Medical Biotechnology Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu,
India.
2
Medical Biotechnology Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu,
India. Electronic address: [email protected].
4
Dystrophies musculaires congénitales - Congenital muscular dystrophies
17. Muscle Nerve. 2015 Jul 14. doi: 10.1002/mus.24770. [Epub ahead of print]
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
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Schwartz DP , Dastgir J , Salman A , Lear B , Bönnemann CG , Lehky TJ .
1
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10 CRC Room 7SW 5680, 10 Center Drive MSC 1404, Bethesda, Maryland, 20892, USA.
18. Neurol Sci. 2015 Jul 8. [Epub ahead of print]
Long-term survival in a patient with muscle-eye-brain disease.
1
Falsaperla R , Giunta L, Lubrano R, Foti R, Vitaliti G.
1
General Pediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Via
Plebiscito n. 628, 95100, Catania, Italy.
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies
19. Neurosciences (Riyadh). 2015 Jul;20(3):259-66. doi: 10.17712/nsj.2015.3.201501097.
The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A
controlled clinical trial.
1
Kilinc M , Yildirim SA, Tan E.
1
Department of Physical Therapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey.
E-mail: [email protected].
20. Acta Myol. 2015 May;34(1):3-8.
Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.
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Siciliano G , Simoncini C , Giannotti S , Zampa V , Angelini C , Ricci G .
1
Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy;
2
Second Orthopaedic and Traumatologic Clinic, University of Pisa, Italy;
3
Department of Diagnostic and Interventional Radiology, University of Pisa, Italy;
4
Fondazione Ospedale S.Camillo, IRCCS, Lido Venice, Italy.
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
- Dystrophinopathies
21. Biosci Rep. 2015 May 12;35(3). pii: e00213. doi: 10.1042/BSR20150013.
Reduction in mdx mouse muscle degeneration by low-intensity endurance exercise: a proteomic analysis in
quadriceps muscle of exercised compared with sedentary mdx mice.
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Fontana S , Schillaci O , Frinchi M , Giallombardo M , Morici G , Liberto VD , Alessandro R , De Leo G , Perciavalle V ,
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4
Belluardo N , Mudò G .
1
Department of Biopathology and Medical Biotechnology, Section of Biology and Genetics, University of Palermo, I90127 Palermo, Italy.
2
Department of Experimental Biomedicine and Clinical Neurosciences, Section of Physiology, University of Palermo, I90134 Palermo, Italy.
3
Department of Biomedical and Biotechnological Sciences, Section of Physiology, University of Catania, I-95125
Catania, Italy.
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Department of Experimental Biomedicine and Clinical Neurosciences, Section of Physiology, University of Palermo, I90134 Palermo, Italy [email protected].
Late-onset Becker Muscular Dystrophy: Refining the clinical features and electrophysiological findings.
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2
Papsdorf TB , Howard JF Jr , Chahin N .
1
Neuromuscular Disorders Section, Department of Neurology, The University of North Carolina at Chapel Hill.
2
Department of Neurology, University of Connecticut Health Center.
5
23. FASEB J. 2015 Jul 15. pii: fj.15-276782. [Epub ahead of print]
Mineralocorticoid receptors are present in skeletal muscle and represent a potential therapeutic target.
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Chadwick JA , Hauck JS , Lowe J , Shaw JJ , Guttridge DC , Gomez-Sanchez CE , Gomez-Sanchez EP , Rafael2
Fortney JA .
1
*Department of Molecular and Cellular Biochemistry, Department of Physiology and Cell Biology, Department of
Molecular Virology, Immunology, and Medical Genetics College of Medicine, The Ohio State University, Columbus,
Ohio, USA; and Department of Internal Medicine and Department of Pharmacology and Toxicology, University of
Mississippi Medical Center, Jackson, Mississippi, USA.
2
*Department of Molecular and Cellular Biochemistry, Department of Physiology and Cell Biology, Department of
Molecular Virology, Immunology, and Medical Genetics College of Medicine, The Ohio State University, Columbus,
Ohio, USA; and Department of Internal Medicine and Department of Pharmacology and Toxicology, University of
Mississippi Medical Center, Jackson, Mississippi, USA [email protected].
24. Neuroreport. 2015 Jul 14. [Epub ahead of print]
Increased calcium in neurons in the cerebral cortex and cerebellum is not associated with cell loss in the mdx
mouse model of Duchenne muscular dystrophy.
1
Tuckett E , Gosetti T, Hayes A, Rybalka E, Verghese E.
1
aCentre for Chronic Disease, College of Health and Biomedicine bInstitute of Sport, Exercise and Active Living (ISEAL),
Victoria University, Melbourne, Victoria, Australia.
25. Nucleic Acid Ther. 2015 Jul 15. [Epub ahead of print]
Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of
Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides.
1
1
1
2
2
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1
Burki U , Keane J , Blain A , O'Donovan L , Gait MJ , Laval SH , Straub V .
1
1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases at Newcastle,
Institute of Genetic Medicine, Newcastle University , Newcastle upon Tyne, United Kingdom .
2
2 Laboratory of Molecular Biology , Medical Research Council, Cambridge, United Kingdom .
26. Biochim Biophys Acta. 2015 Jul 10. pii: S0925-4439(15)00200-8. doi: 10.1016/j.bbadis.2015.07.008. [Epub
ahead of print]
Differential roles of MMP-9 in early and late stages of dystrophic muscles in a mouse model of Duchenne
muscular dystrophy.
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6
1
Shiba N , Miyazaki D , Yoshizawa T , Fukushima K , Shiba Y , Inaba Y , Imamura M , Takeda S , Koike K , Nakamura
7
A.
1
Department of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
2
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi,
Matsumoto 390-8621, Japan.
3
Division of Laboratory Animal Research, Research Center for Human and Environmental Sciences, Shinshu University,
3-1-1 Asahi, Matsumoto 390-8621, Japan.
4
Intractable Disease Care Center, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
5
Department of Cardiovascular Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621,
Japan.
6
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 41-1 Ogawahigashi, Kodaira 187-8561, Japan.
7
Intractable Disease Care Center, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan. Electronic
address: [email protected].
27. Curr Gene Ther. 2015 Jul 10. [Epub ahead of print]
ADENO-ASSOCIATED VIRUS (AAV) MEDIATED DYSTROPHIN GENE TRANSFER STUDIES AND EXON SKIPPING
STRATEGIES FOR DUCHENNE MUSCULAR DYSTROPHY (DMD).
Kawecka K, Theodoulides M, Hasoglu Y, Jarmin S, Kymalainen H, Le-Heron A, Popplewell L, Malerba A, Dickson G,
1
Athanasopoulos T .
1
Molecular Biotechnology, Faculty of Science & Engineering, University of Wolverhampton, City Campus South,
Wulfruna St., Wolverhampton, WV1 1LY, UK. [email protected].
6
28. Rinsho Shinkeigaku. 2015 Jul 7. [Epub ahead of print]
Survey of the actual state of medical care of patients with Duchenne muscular dystrophy in Japan.
1
Matsumura T , Komaki H, Kawai M.
1
Department of Neurology, National Hospital Organization Toneyama National Hospital.
29. Acta Myol. 2015 May;34(1):9-13.
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.
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Taglia A , Petillo R , D'Ambrosio P , Picillo E , Torella A , Orsini C , Ergoli M , Scutifero M , Passamano L , Palladino
1
3
1
A , Nigro G , Politano L .
1
Cardiomiology and Medical Genetics, Department of Experimental Medicine;
2
Laboratory of Medical Genetics, Department of Biochemistry, Biophysics and General Pathology;
3
Arrhythmologic Unit, Department of Cardio-Respiratory Sciences, Second University of Naples, Italy.
30. Arch Dis Child. 2015 Jul 7. pii: archdischild-2014-307962. doi: 10.1136/archdischild-2014-307962. [Epub ahead
of print]
Recent advances in the management of Duchenne muscular dystrophy.
1
1
Strehle EM , Straub V .
1
The John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne, UK.
31. Hum Genet. 2015 Jul 8. [Epub ahead of print]
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple
patterns of alternative splicing including two intronic insertion events.
1
Nishida A , Minegishi M, Takeuchi A, Awano H, Niba ET, Matsuo M.
1
Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, 518 Arise, Ikawadani, Nishi,
Kobe, 651-2180, Japan.
32. Clin Chim Acta. 2015 Jul 3;448:146-149. doi: 10.1016/j.cca.2015.07.002. [Epub ahead of print]
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and
protein analysis.
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2
Boulez FR , Menassa R , Streichenberger N , Manel V , Mallet-Motak D , Morel Y , Michel-Calemard L .
1
Laboratoire d'Endocrinologie Moléculaire et Maladies Rares, Hospices Civils de Lyon, Lyon, France; Université Claude
Bernard Lyon 1, Lyon, France. Electronic address: [email protected].
2
Laboratoire d'Endocrinologie Moléculaire et Maladies Rares, Hospices Civils de Lyon, Lyon, France.
3
Université Claude Bernard Lyon 1, Lyon, France; Laboratoire d'Anatomo-Cyto-Pathologie, Hospices Civils de Lyon,
Lyon, France.
4
Service de Neuropédiatrie, HFME, Hospices Civils de Lyon, Lyon, France.
5
Laboratoire d'Endocrinologie Moléculaire et Maladies Rares, Hospices Civils de Lyon, Lyon, France; Université Claude
Bernard Lyon 1, Lyon, France.
In vivo treatment with the NF-κB inhibitor ursodeoxycholic acid (UDCA) improves tension development in the
isolated mdx costal diaphragm.
1
Carlson CG , Potter R, Yu V, Luo K, Lavin J, Nielsen C.
1
Department of Physiology, Midwestern University Glendale, Glendale, AZ, 85308.
34. Arch Dis Child. 2015 Jul 3. pii: archdischild-2015-308654. doi: 10.1136/archdischild-2015-308654. [Epub ahead
of print]
Short stature and pubertal delay in Duchenne muscular dystrophy.
1
2
2
2
3
Wood CL , Straub V , Guglieri M , Bushby K , Cheetham T .
7
1
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK The John Walton Muscular
Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle
upon Tyne, UK.
2
The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of
Genetic Medicine, Newcastle upon Tyne, UK.
3
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Institute of Genetic
Medicine, Newcastle upon Tyne, UK.
35. Compr Physiol. 2015 Jul 1;5(3):1223-39. doi: 10.1002/cphy.c140048.
The Dystrophin Complex: Structure, Function, and Implications for Therapy.
1
2
Gao QQ , McNally EM .
1
Committee on Development, Regeneration and Stem Cell Biology, The University of Chicago, Chicago, Illinois, USA.
2
Center for Genetic Medicine, Northwestern University, Chicago, Chicago, Illinois, USA.
36. Exp Physiol. 2015 Jul 3. doi: 10.1113/EP085308. [Epub ahead of print]
Advances in genetic therapeutic strategies for Duchenne muscular dystrophy.
1
1
1
1
Guiraud S , Chen H , Burns DT , Davies KE .
1
Medical Research Council Functional Genomics Unit at the University of Oxford, Department of Physiology, Anatomy
and Genetics, Oxford, OX1 3PT, United Kingdom.
37. EBioMedicine. 2015 Feb 26;2(4):285-93. doi: 10.1016/j.ebiom.2015.02.014. eCollection 2015.
Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade.
1
1
2
1
3
2
2
1
3
Pelosi L , Berardinelli MG , De Pasquale L , Nicoletti C , D'Amico A , Carvello F , Moneta GM , Catizone A , Bertini E ,
2
4
De Benedetti F , Musarò A .
1
Institute Pasteur-Cenci Bolognetti, DAHFMO-Unit of Histology and Medical Embryology, IIM, Sapienza University of
Rome, 00161, Italy.
2
Division of Rheumatology, Bambino Gesù Children's Hospital, Rome 00100, Italy.
3
Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's
Hospital, Rome 00100, Italy.
4
Institute Pasteur-Cenci Bolognetti, DAHFMO-Unit of Histology and Medical Embryology, IIM, Sapienza University of
Rome, 00161, Italy ; Center for Life Nano Science@Sapienza, Istituto Italiano di Tecnologia, Rome 00161, Italy.
38. EBioMedicine. 2015 Mar 28;2(4):274-5. doi: 10.1016/j.ebiom.2015.03.018. eCollection 2015.
IL-6 Blockade as a Therapeutic Approach for Duchenne Muscular Dystrophy.
1
1
Mammen AL , Sartorelli V .
1
Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin
Diseases, National Institutes of Health, Bethesda, MD, United States.
39. Ther Adv Neurol Disord. 2015 Jul;8(4):166-77. doi: 10.1177/1756285615586123.
Duchenne muscular dystrophy: current cell therapies.
1
2
1
1
1
Sienkiewicz D , Kulak W , Okurowska-Zawada B , Paszko-Patej G , Kawnik K .
1
Department of Pediatric Rehabilitation Medical University, Bialystok, Poland.
2
Department of Pediatric Rehabilitation, Medical University of Białystok, 15-274 Bialystok, 17 Waszyngtona street,
Poland.
40. Acta Neurol Scand. 2015 Jul 2. doi: 10.1111/ane.12450. [Epub ahead of print]
Leptin and metabolic syndrome in patients with Duchenne/Becker muscular dystrophy.
1
1
2
1
Rodríguez-Cruz M , Cruz-Guzmán OR , Escobar RE , López-Alarcón M .
1
Laboratorio de Biología Molecular, Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico
Nacional Siglo XXI, IMSS, México, D.F., México.
2
Servicio de Electrodiagnóstico y Distrofia Muscular, Instituto Nacional de la Rehabilitación, México, D.F., México.
8
41. Ann Neurosci. 2015 Apr;22(2):108-18. doi: 10.5214/ans.0972.7531.221210.
Dystrophin induced cognitive impairment: mechanisms, models and therapeutic strategies.
1
1
2
3
4
4
Anand A , Tyagi R , Mohanty M , Goyal M , Silva KR , Wijekoon N .
1
Neuroscience Research Lab, Department of Neurology.
2
Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, INDIA;
3
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, INDIA;
4
Diagnostic and Research Laboratory, Department of Anatomy, University of Sri Jayewardenepura, Nugegoda, SRI
LANKA.
42. J Cell Physiol. 2015 Jun 30. doi: 10.1002/jcp.25085. [Epub ahead of print]
Agents Which Inhibit NF-κB Signaling Block Spontaneous Contractile Activity and Negatively Influence Survival
of Developing Myotubes.
1,2
2
2
1
2
Carlson CG , Stein L , Dole E , Potter RM , Bayless D .
1
Department of Physiology, Midwestern University Glendale, Glendale, AZ, 85308.
2
Department of Physiology, Kirksville College Osteopathic Medicine, Kirksville, MO, 63501.
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies
43. Mol Med Rep. 2015 Jul 8. doi: 10.3892/mmr.2015.4065. [Epub ahead of print]
Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
1
2
2
2
2
Zhang L , Shen H , Zhao Z , Bing Q , Hu J .
1
Department of Cardiovascular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051,
P.R. China.
2
Department of Neuromuscular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051,
P.R. China.
44. Am J Physiol Cell Physiol. 2015 Jul 8:ajpcell.00177.2015. doi: 10.1152/ajpcell.00177.2015. [Epub ahead of
print]
Lmo7 is dispensable for skeletal muscle and cardiac function.
1
1
1
1
2
1
1
1
1
Lao DH , Esparza MC , Bremner SN , Banerjee I , Zhang J , Veevers J , Bradford WH , Gu Y , Dalton ND , Knowlton
1
1
3
4
KU , Peterson KL , Lieber RL , Chen J .
1
University of California San Diego.
2
UCSD/Wuhan University, China.
3
Rehabilitation Institute of Chicago.
4
University of California San Diego [email protected].
Dystrophie musculaire facio-scapulo-humérale- Facioscapulohumeral muscular dystrophy
(FSHD)
45. Nucleic Acids Res. 2015 Jul 15. pii: gkv721. [Epub ahead of print]
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in
Facioscapulohumeral dystrophy.
1
1
1
2
3
1
4
5
6
Kim E , Rich J , Karoutas A , Tarlykov P , Cochet E , Malysheva D , Mamchaoui K , Ogryzko V , Pirozhkova I .
1
CNRS, University Paris-Sud, UMR-8126, Gustave Roussy, Villejuif 94408, France.
2
National Center for Biotechnology, Astana 010000, Kazakhstan.
3
CNRS, University Paris-Sud, UMR-8126, Gustave Roussy, Villejuif 94408, France Proteomic Platform, IRCIV Gustave
Roussy, Villejuif 94408, France.
4
Thérapie des maladies du muscle strié, Institut de Myologie, UM76-Pierre et Marie CURIE University/ U974-INSERM/
UMR7215-CNRS, Paris 75013, France.
5
Proteomic Platform, IRCIV Gustave Roussy, Villejuif 94408, France INSERM, CNRS, University Paris-Sud, UMR-8126,
Gustave Roussy, Villejuif 94408, France.
6
CNRS, University Paris-Sud, UMR-8126, Gustave Roussy, Villejuif 94408, France [email protected].
9
46. PLoS One. 2015 Jul 16;10(7):e0132717. doi: 10.1371/journal.pone.0132717.
Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular
Dystrophy Type 1.
1
2
3
1
1
2
1
Lareau-Trudel E , Le Troter A , Ghattas B , Pouget J , Attarian S , Bendahan D , Salort-Campana E .
1
Centre de référence des maladies neuromusculaires et de la SLA, Centre hospitalier universitaire la Timone, Université
Aix-Marseille, Marseille, France.
2
Aix-Marseille Université, Centre de Résonance Magnétique Biologique et Médicale, UMR CNRS 7339, Marseille,
France.
3
Institut de Mathématiques de Marseille, Université Aix-Marseille, Marseille, France.
Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study.
1
2
2
2
2
Andersen G , Prahm KP , Dahlqvist JR , Citirak G , Vissing J .
1
From the Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen,
Denmark. [email protected].
2
Denmark.
48. Gait Posture. 2015 Jun 22. pii: S0966-6362(15)00507-X. doi: 10.1016/j.gaitpost.2015.06.005. [Epub ahead of
print]
Dynamic stability during level walking and obstacle crossing in persons with facioscapulohumeral muscular
dystrophy.
1
2
3
4
Rijken NH , van Engelen BG , Geurts AC , Weerdesteyn V .
Radboud University Medical Centre, Donders Centre for Neuroscience, Department of Rehabilitation, Nijmegen, The
Netherlands.
2
Radboud University Medical Centre, Donders Centre for Neuroscience, Department of Neurology, Nijmegen, The
Netherlands.
3
Netherlands; Sint Maartenskliniek Research, Nijmegen, The Netherlands.
4
Netherlands; Sint Maartenskliniek Research, Nijmegen, The Netherlands. Electronic address:
[email protected].
Dystrophies myotoniques - Myotonic dystrophies
49. Clin Case Rep. 2015 Jun;3(6):424-6. doi: 10.1002/ccr3.256. Epub 2015 Apr 9.
Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child.
1
2
1
1
Glaser AM , Johnston JH , Gleason WA , Rhoads JM .
1
Department of Pediatrics, Division of Gastroenterology, University of Texas Medical School at Houston Houston, Texas.
2
Department of Radiology, University of Texas Medical School at Houston Houston, Texas.
Muscular dystrophy has been traditionally associated with common gastrointestinal symptoms such as reflux,
constipation, and dysphasia. In myotonic dystrophy, there are rare reports of chronic intestinal pseudoobstruction
(CIPOS). We herein present a case of CIPOS requiring colectomy and with good results.
50. Neurol Res. 2015 Jul 17:1743132815Y0000000068. [Epub ahead of print]
Variability of multisystemic features in myotonic dystrophy type 1 - lessons from Serbian registry.
Rakocevic-Stojanovic V, Peric S, Basta I, Dobricic V, Ralic V, Kacar A, Peric M, Novakovic I.
BACKGROUND:
Myotonic dystrophy type 1 (DM1) is a rare disease. Creating registry for such a disease is of outstanding importance
since it provides us with a full spectrum of the disorder.
10
51. Case Rep Endocrinol. 2015;2015:735868. doi: 10.1155/2015/735868. Epub 2015 Jun 15.
Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and
Review of the Literature.
1
1
1
1
1
1
Cherif Y , Zantour B , Alaya W , Berriche O , Younes S , Sfar MH .
1
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100
Mahdia, Tunisia.
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.
1
2
2,3
Johnson NE , Abbott D , Cannon-Albright LA .
1
Department of Neurology, University of Utah School of Medicine.
2
Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine.
3
George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah.
53. Neurology. 2015 Jul 14;85(2):203. doi: 10.1212/WNL.0000000000001734.
Toe-extension myotonia in myotonic dystrophy type 1.
1
2
Mankodi A , Grunseich C .
1
From the Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
[email protected].
2
From the Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
54. Biochim Biophys Acta. 2015 Jul 11. pii: S0925-4439(15)00198-2. doi: 10.1016/j.bbadis.2015.07.006. [Epub
ahead of print]
Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle.
1
2
2
1
3
3
2
4
Zhao Y , Ogawa H , Yonekura SI , Mitsuhashi H , Mitsuhashi S , Nishino I , Toyoshima C , Ishiura S .
1
Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, 3-8-1 Komaba, Meguroku, Tokyo 153-8902, Japan.
2
Institute of Molecular and Cellular Biosciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo 113-0032,
Japan.
3
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and
Psychiatry, Tokyo, Japan.
4
Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, 3-8-1 Komaba, Meguroku, Tokyo 153-8902, Japan. Electronic address: [email protected].
55. Eur Rev Med Pharmacol Sci. 2015 Jun;19(12):2144-5.
Interatrial block, supraventricular arrhythmias and myotonic dystrophy.
1
Marano M .
1
Hemodialysis Unit, Maria Rosaria Clinic, Pompeii, Italy. [email protected].
56. Acta Clin Belg. 2015 Jul 2:2295333715Y0000000043. [Epub ahead of print]
Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.
Finsterer J, Karpatova A, Rauschka H, Loewe-Grgurin M, Frank M, Gencik M.
OBJECTIVE:
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva
57. Indian J Nucl Med. 2015 Jul-Sep;30(3):290-1. doi: 10.4103/0972-3919.151657.
Fibrodysplasia ossificance progressiva: A familial presentation.
1
1
1
1
Pawar SU , Sahoo S , Manglunia A , Tilve GH .
1
Department of Nuclear Medicine, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
11
Maladie de Pompe – Pompe’s disease
58. Orphanet J Rare Dis. 2015 Jul 19;10(1):87.
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength
and core stability before and after a 12 week training program.
1
1,2
3
1
2
4
2
3
van den Berg LE , Favejee MM , Wens SC , Kruijshaar ME , Praet SF , Reuser AJ , Bussmann JB , van Doorn PA ,
5
van der Ploeg AT .
1
Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center Sophia Children's Hospital, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.
2
Department of Rehabilitation Medicine & Physical Therapy, Erasmus MC University Medical Center, PO Box 2040,
3000, CA, Rotterdam, The Netherlands.
3
Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, PO
Box 2040, 3000, CA, Rotterdam, The Netherlands.
4
Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus MC University Medical
Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.
5
Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center Sophia Children's Hospital, PO Box 2040, 3000, CA, Rotterdam, The Netherlands. [email protected].
59. Mol Genet Metab Rep. 2015 Sep 1;4:30-34.
Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach
to High-Sustained Antibody Titers.
1
2
3
3
2
Stenger EO , Kazi Z , Lisi E , Gambello MJ , Kishnani P .
1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, United
States.
2
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
3
Division of Medical Genetics, Department of Human Genetics, Emory University, Atlanta, GA, United States.
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe
disease phenotype.
1
1
1
1
1
Morales A , Poling MI , Páez MT , Cabrera J , McCormick RJ .
1
Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia,
USA.
61. Genet Med. 2015 Jul 2;17(7):596. doi: 10.1038/gim.2015.57.
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients
treated with ERT monotherapy.
[No authors listed]
Myasthénie autoimmune– Myasthenia Gravis
62. BMJ Open. 2015 Jul 16;5(7):e007863. doi: 10.1136/bmjopen-2015-007863.
Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebocontrolled n-of-1 trials.
1
2
3
4
5
6
7
5
Vrinten C , Lipka AF , van Zwet EW , Schimmel KJ , Cornel MC , Kuijpers MR , Hekster YA , Weinreich SS ,
2
Verschuuren JJ .
1
Department of Epidemiology and Public Health, University College London, London, UK Department of Clinical
Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
2
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
3
Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.
4
Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
5
Department of Clinical Genetics, EMGO Institute for Health and Care Research, VU University Medical Center,
Amsterdam, The Netherlands.
6
Department of Care, Section Pharmaceutical Care, National Health Care Institute, Diemen, The Netherlands.
12
7
Department of Pharmacy, Radboud University Medical Center, Nijmegen, The Netherlands.
63. Int J Cardiol. 2015 Jul 4;199:40-41. doi: 10.1016/j.ijcard.2015.06.165. [Epub ahead of print]
Myasthenia gravis. A potential cause of false positively elevated troponin T? Case report and brief review.
1
2
1
3
4
5
6
Stavroulakis G , Papadopoulou M , Koutroulis G , Zouvelou V , Katsavochristos J , Georgiadis E , Baltogiannis C ,
1
Avrampos G .
1
Cardiology Department Ygeias Melathron, Greece.
2
Neurology Department Ygeias Melathron, Greece. Electronic address: [email protected].
3
Neurology Department Aeginition Hospital, University of Athens, Greece.
4
Biopathology/Microbiology Department Ygeias Melathron, Greece.
5
Radiology Department Ygeias Melathron, Greece.
6
Neurology Department Ygeias Melathron, Greece.
LETTER
64. Acta Neurol Belg. 2015 Jul 17. [Epub ahead of print]
Low vitamin D levels in healthy controls and patients with autoimmune neuromuscular disorders in Greece.
1
Chroni E , Dimisianos N, Punga AR.
1
Department of Neurology, School of Medicine, University of Patras, Patras, Greece.
65. J Phys Ther Sci. 2015 Jun;27(6):2013-8. doi: 10.1589/jpts.27.2013. Epub 2015 Jun 30.
Sleep disorders in patients with myasthenia gravis: a systematic review.
1
1
1
1
1
1
2
Fernandes Oliveira E , Nacif SR , Alves Pereira N , Fonseca NT , Urbano JJ , Perez EA , Cavalcante V , Santos
1
3
2
1
Oliveira C , Insalaco G , Oliveira AS , Oliveira LV .
1
Sleep Laboratory, Rehabilitation Sciences Master's and PhD Degree Program, Nove de Julho University, Brazil.
2
Division of Neuromuscular Disorders, Department of Neurology and Neurosurgery, Federal University of Sao Paulo
(UNIFESP), Brazil.
3
National Research Council of Italy, Institute of Biomedicine and Molecular Immunology "A. Monroy", Italy.
Efficacy of Prednisone for the Treatment of Ocular Myasthenia (EPITOME): A Randomized Controlled Trial.
1
1
1
1
1
1
1
1
1
Benatar M , McDermott MP , Sanders DB , Wolfe GI , Barohn RJ , Nowak RJ , Hehir M , Juel V , Katzberg H , Tawil
1
R ; Muscle Study Group (MSG).
1
Department of Neurology Miller School of Medicine, University of Miami, 1120 NW 14th Street, CRB 1318, Miami, FL,
33129.
67. Autoimmune Dis. 2015;2015:197893. doi: 10.1155/2015/197893. Epub 2015 Jun 14.
Gender and Ethnicity Based Differences in Clinical and Laboratory Features of Myasthenia Gravis.
1
2
1
1
2
Abukhalil F , Mehta B , Saito E , Mehta S , McMurtray A .
1
Neurology Department, Los Angeles Biomedical Research Institute, 1124 West Carson Street, Building E5, Torrance,
CA 90502, USA.
2
Neurology Department, Los Angeles Biomedical Research Institute, 1124 West Carson Street, Building E5, Torrance,
CA 90502, USA ; Department of Neurology, Harbor-UCLA Medical Center, 1000 West Carson Street, Torrance, CA
90509, USA.
A mimic's imitator: a cavitary pneumonia in a myasthenic patient with history of tuberculosis.
1
1
1
Garcia RR , Bhanot N , Min Z .
1
Division of Infectious Diseases, Allegheny General Hospital, Allegheny Health Network, Pittsburgh, Pennsylvania, USA.
13
69. Nat Rev Neurol. 2015 Jul 7. doi: 10.1038/nrneurol.2015.120. [Epub ahead of print]
Improved diagnostic sensitivity can aid the correct choice of treatment for patients with myasthenia gravis.
Malkki H.
Olfactory and gustatory dysfunction in Myasthenia gravis: A study in Turkish patients.
1
1
2
3
1
4
5
6
7
Tekeli H , Senol MG , Altundag A , Yalcınkaya E , Kendirli MT , Yaşar H , Salihoglu M , Saglam O , Cayonu M ,
8
9
Cesmeci E , Hummel T .
1
GATA Haydarpasa Training Hospital, Department of Neurology, İstanbul, Turkey.
2
Istanbul Surgery Hospital, Department of Otorhinolaryngology, İstanbul, Turkey.
3
Koru Hospitals, Department of Otorhinolaryngology, Ankara, Turkey.
4
Ankara Mevki Military Hospital, Department of Neurology, Ankara, Turkey. Electronic address: [email protected].
5
GATA Haydarpasa Training Hospital, Department of Otorhinolaryngology, İstanbul, Turkey.
6
Kasımpasa Military Hospital, Department of Otorhinolaryngology, İstanbul, Turkey.
7
Amasya Training And Research Hospital, Department of Otorhinolaryngology, Amasya, Turkey.
8
Diyarbakır Military Hospital, Department of Otorhinolaryngology, Diyarbakır, Turkey.
9
Technical University of Dresden, Department of Otorhinolaryngology, Smell and Taste Clinic, Dresden, Germany.
71. Arch Pediatr. 2015 Jul 2. pii: S0929-693X(15)00191-8. doi: 10.1016/j.arcped.2015.04.019. [Epub ahead of
print]
Myasthenia gravis and the neurology of inflammatory bowel disease.
1
2
de Assis Aquino Gondim F , Patrick Thomas F .
1
Departamento de Clínica Médica, Universidade Federal do Ceará, Fortaleza, Brazil. Electronic address:
[email protected].
2
Departments of Neurology and Psychiatry, and Physical Therapy, Institute for Molecular Virology, Saint-Louis University
School of Medicine, Saint-Louis, MO, USA.
LETTER
Chemosensory disturbances-associated nanocholinergic dysfunction: The case of, not only, myasthenia gravis.
1
2
3
4
Leon-Sarmiento FE , Leon-Ariza JS , Prada DG , Leon-Ariza DS .
1
Smell & Taste Center, Department of Otorhinolaryngology, Perelman School of Medicine, Philadelphia, PA, USA.
Electronic address: [email protected].
2
Mediciencias Research Group, Unicolciencias/Universidad Nacional, Bogota, Colombia; Visiting Scholar, Department of
Radiology, Perelman School of Medicine, Philadelphia, PA, USA.
3
Department of Environmental Health, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
4
Mediciencias Research Group, Unicolciencias/Universidad Nacional, Bogota, Colombia; Faculty of Health Sciences,
UDES, Bucaramanga, Colombia.
EDITORIAL
73. Eur Neurol. 2015 Jul 1;74(1-2):22-27. [Epub ahead of print]
Clinical and Electrophysiological Markers in Myasthenia Gravis Patients.
1
Jing F , Cui F, Chen Z, Yang F, Ling L, Huang X.
1
Department of Neurology, Chinese PLA General Hospital, Beijing, China.
74. Int J Clin Oncol. 2015 Jul 3. [Epub ahead of print]
Thymic carcinoma patients with myasthenia gravis exhibit better prognoses.
1
Li W , Miao Z, Liu X, Zhang Q, Sun L, Li P, Liu W, Zhang L.
1
Department of Thoracic Surgery, The First Affiliated Hospital of China Medical University, No. 155 North Nanjing Street,
Shenyang, 110001, Liaoning Province, China.
14
75. Isr Med Assoc J. 2015 May;17(5):318-20.
Presacral Mass Discovered during Pregnancy followed by Myasthenia Gravis.
Benjamin B, Zaltzman R, Shpitz B, Gordon CR, Avital S.
Myopathies congénitales – Congenital Myopathies
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
1
2
3
1
Witting N , Werlauff U , Duno M , Vissing J .
1
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen.
2
The Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus.
3
Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark.
77. J Mol Cell Biol. 2015 Jul 9. pii: mjv049. [Epub ahead of print]
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle
growth.
1
2
1
3
4
1
1
5
1
Blondelle J , Ohno Y , Gache V , Guyot S , Storck S , Blanchard-Gutton N , Barthélémy I , Walmsley G , Rahier A ,
1
1
1
1
6
1
7
1
5
Gadin S , Maurer M , Guillaud L , Prola A , Ferry A , Aubin-Houzelstein G , Demarquoy J , Relaix F , Piercy RJ , Blot
1
2
8
8
S , Kihara A , Tiret L , Pilot-Storck F .
1
Inserm, IMRB U955-E10, 94000 Créteil, France Université Paris-Est, Ecole nationale vétérinaire d'Alfort (EnvA), 94700,
Maisons-Alfort, & Faculté de médecine, 94000 Créteil, France APHP, Hopitaux Universitaires Henri Mondor, DHU Pepsy
& Centre de référence des maladies neuromusculaires GNMH, 94000 Créteil, France Etablissement Français du Sang,
94017 Créteil, France.
2
Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan.
3
UMR A 02.102 Procédés Alimentaires et Microbiologiques, équipe Procédés Microbiologiques et Biotechnologiques,
AgroSup Dijon / Université de Bourgogne, 21000 Dijon, France.
4
Institut Necker-Enfants Malades, INSERM U1151-CNRS UMR 8253, Université Paris Descartes, Sorbonne Paris Cité,
Faculté de médecine, site Broussais, 75000 Paris, France.
5
Comparative Neuromuscular Disease Laboratory, Department of Clinical Sciences and Services, Royal Veterinary
College, London, NW1 0TU, UK.
6
Thérapie des maladies du muscle strié INSERM U974 - CNRS UMR7215 - UPMC UM76 - Institut de Myologie,
Université Pierre et Marie Curie, and Université Paris Descartes, 75000 Paris, France.
7
Laboratoire Bio-PeroxIL, Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique, Université de Bourgogne Faculté des Sciences Gabriel, 21000 Dijon, France.
8
Inserm, IMRB U955-E10, 94000 Créteil, France Université Paris-Est, Ecole nationale vétérinaire d'Alfort (EnvA), 94700,
Maisons-Alfort, & Faculté de médecine, 94000 Créteil, France APHP, Hopitaux Universitaires Henri Mondor, DHU Pepsy
& Centre de référence des maladies neuromusculaires GNMH, 94000 Créteil, France Etablissement Français du Sang,
94017 Créteil, France [email protected] [email protected].
Myopathies distales – Distal myopathies
78. J Neurosci Rural Pract. 2015 Jul-Sep;6(3):428-30. doi: 10.4103/0976-3147.158798.
Calf heads on a trophy sign: Miyoshi myopathy.
1
1
1
1
Shyma MM , Roopchand PS , Ram KM , Shaji CV .
1
Department of Neurology, Goverment TD Medical College Alappuzha, Kerala, India.
Myopathies liées à la cavéoline 3 – CAV3 related myopathies
79. Neurologist. 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036.
Caveolinopathies in Greece.
1
Papadopoulos C , Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P.
1
*1st Department of Neurology, School of Medicine, University of Athens, Eginition Hospital, Athens †Department of
Medical Genetics, Athens University, "Aghia Sophia" Children's Hospital, Hellas, Greece.
15
Myopathies liées à GNE – GNE myopathies
80. Ann Rehabil Med. 2015 Jun;39(3):494-7. doi: 10.5535/arm.2015.39.3.494. Epub 2015 Jun 30.
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.
1
2
3
4
Choi YA , Park SH , Yi Y , Kim K .
1
Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.
2
Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
3
Department of Rehabilitation Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
4
Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea. ; Department of Biomedical
Engineering, Seoul National University College of Medicine, Seoul, Korea.
Myopathies inflammatoires - Inflammatory myopathies
81. Pan Afr Med J. 2015 Apr 15;20:368.
[Muscle paralysis secondary to polymyositis].
[Article in French]
1
1
1
1
1
1
1
Ennafiri M , Elotmani W , Awab A , El Moussaoui R , El Hijri A , Alilou M , Azzouzi A .
1
Service de Réanimation Chirurgicale, Hôpital Avicenne, CHU Ibn Sina, Rabat, Maroc.
82. Joint Bone Spine. 2015 Jul 13. pii: S1297-319X(15)00126-8. doi: 10.1016/j.jbspin.2015.03.004. [Epub ahead of
print]
Gastrointestinal endarteropathy in adult dermatomyositis.
1
2
3
Mestre-Torres J , Landolfi S , Selva-O'Callaghan A .
1
Internal Medicine Department, Vall D'hebron General Hospital, Universitat Autonoma de Barcelona, 08035 Barcelona,
Spain.
2
Pathology Department, Vall D'hebron General Hospital, Universitat Autonoma de Barcelona, 08035 Barcelona, Spain.
3
Internal Medicine Department, Vall D'hebron General Hospital, Universitat Autonoma de Barcelona, 08035 Barcelona,
Spain. Electronic address: [email protected].
LETTER
83. Medicine (Baltimore). 2015 Jul;94(28):e1138. doi: 10.1097/MD.0000000000001138.
Increased Risk of Herpes Zoster Following Dermatomyositis and Polymyositis: A Nationwide Population-Based
Cohort Study.
1
Tsai SY , Lin CL, Wong YC, Yang TY, Kuo CF, Cheng JM, Wang JS, Kao CH.
1
From the Department of Laboratory Medicine, Mackay Memorial Hospital, Mackay Medical College, New Taipei City,
Taiwan (S-YT); Department of Health Policy and Management, Bloomberg School of Public Health, Johns Hopkins
University, USA (S-YT); Management Office for Health Data, China Medical University Hospital (C-LL); College of
Medicine, China Medical University, Taichung (C-LL); Department of Medicine, National Defense Medical Center, Taipei
(Y-CW); Molecular and Genomic Epidemiology Center, China Medical University Hospital, China Medical University,
Taichung (T-YY); Division of Nephrology, Department of Internal Medicine, Changhua Christian Hospital, Changhua (TYY); Division of Infectious Disease, Department of Medicine, Mackay Memorial Hospital (C-FK); Institute of Biomedical
Engineering, National Taiwan University, Taipei (J-MC); Department of Pathology and Laboratory Medicine, Kaohsiung
Veterans General Hospital, Kaohsiung (J-SW); Department of Nuclear Medicine and PET Center, China Medical
University Hospital, Taichung (C-HK); and Graduate Institute of Clinical Medical Science and School of Medicine,
College of Medicine, China Medical University, Taichung, Taiwan (C-HK).
84. Discov Med. 2015 Jun;19(107):463-70.
Polymyositis and dermatomyositis: novel insights into the pathogenesis and potential therapeutic targets.
1
Lahouti AH , Christopher-Stine L.
1
Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
16
85. Rev Prat. 2015 May;65(5):607-12.
[Acquired inflammatory myopathies: interest of specific autoantibodies for their classification].
[Article in French]
Benveniste O.
86. Rheumatology (Oxford). 2015 Jul 9. pii: kev247. [Epub ahead of print]
High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive
dermatomyositis.
1
2
3
4
5
2
Muro Y , Sugiura K , Nara M , Sakamoto I , Suzuki N , Akiyama M .
Author information
1
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, [email protected].
2
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya.
3
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Akita.
4
Department of Nephrology, Nagoya Memorial Hospital, Nagoya and.
5
Department of Dermatology, Toyohashi Municipal Hospital, Toyohashi, Japan.
LETTER
87. Clin Rheumatol. 2015 Jul 7. [Epub ahead of print]
Clinical and serological features of patients with dermatomyositis complicated by spontaneous
pneumomediastinum.
1
Ma X , Chen Z, Hu W, Guo Z, Wang Y, Kuwana M, Sun L.
1
Department of Rheumatology and Immunology, Drum Tower Clinical Medical College of Nanjing Medical University,
140 Hanzhong Road, Nanjing, 210029, China.
88. Neuromuscul Disord. 2015 Jun 16. pii: S0960-8966(15)00641-0. doi: 10.1016/j.nmd.2015.06.460. [Epub ahead
of print]
Inclusion body myositis with granuloma formation in muscle tissue.
1
2
2
3
4
4
4
Sakai K , Ikeda Y , Ishida C , Matsumoto Y , Ono K , Iwasa K , Yamada M .
1
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences,
Kanazawa, Japan. Electronic address: [email protected].
2
Kanazawa, Japan; Department of Neurology, National Hospital Organization Iou Hospital, Kanazawa, Japan.
3
Kanazawa, Japan; Department of Neurology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
4
Kanazawa, Japan.
89. Mod Rheumatol. 2015 Jul 3:1-5. [Epub ahead of print]
Comment on "Corticosteroid-sparing effect of tacrolimus in the initial treatment of dermatomyositis and
polymyositis" by Yokoyama et al.
Nagashima T, Minota S.
90. Ther Adv Neurol Disord. 2015 Jul;8(4):153-9. doi: 10.1177/1756285615584739.
Subcutaneous immunoglobulin in treating inflammatory neuromuscular disorders.
1
1
2
Yoon MS , Gold R , Kerasnoudis A .
1
Department of Neurology, Ruhr University, Bochum, Germany.
2
Department of Neurology, St. Josef-Hospital, Ruhr University, Gudrunstr. 56, 44791 Bochum, Germany.
Plasma IP-10 level distinguishes inflammatory myopathy.
1
1
1
1
1
1
2
Uruha A , Noguchi S , Sato W , Nishimura H , Mitsuhashi S , Yamamura T , Nishino I .
1
From the Translational Medical Center (A.U., S.N., S.M., I.N.) and the National Institute of Neuroscience (A.U., S.N.,
W.S., H.N., S.M., T.Y., I.N.), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
17
2
From the Translational Medical Center (A.U., S.N., S.M., I.N.) and the National Institute of Neuroscience (A.U., S.N.,
W.S., H.N., S.M., T.Y., I.N.), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. [email protected].
Myopathies mitochondriales – Mitochondrial myopathies
92. Eplasty. 2015 Jun 8;15:e20. eCollection 2015.
Cranial and Cervical Muscular Weakness in Mitochondrial Myopathy Is Associated With Resolution of Migraine
Headaches: Further Evidence That Muscular Compression of Cranial and Peripheral Nerves Is a Cause of
Headache in a Subset of Patients With Migraine.
1
Miranda EP .
1
Center for Complex Reconstruction, San Francisco, Calif ; Department of Plastic Surgery, California Pacific Medical
Center, San Francisco, Calif.
Myopathies avec surcharge en filaments ou à inclusions –Myopathies with excess of filaments
or inclusions
93. J Med Genet. 2015 Jul 1. pii: JMEDGENET-2014-102882. doi: 10.1136/jmedgenet-2014-102882. [Epub ahead
of print]
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
1
1
1
2
3
4
1
1
5
Di Blasi C , Sansanelli S , Ruggieri A , Moriggi M , Vasso M , D'Adamo AP , Blasevich F , Zanotti S , Paolini C , Protasi
5
6
3
1
7
1
F , Tezzon F , Gelfi C , Morandi L , Pessia M , Mora M .
1
Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.
2
Department of Biomedical Sciences for Health, University of Milano, Milano, Italy.
3
Department of Biomedical Sciences for Health, University of Milano, Milano, Italy CNR-Institute of Bioimaging and
Molecular Physiology, Milano, Italy.
4
Medical Genetics, University of Trieste, Trieste, Italy.
5
CeSI, Center for Research on Ageing & Department of Neuroscience, Imaging, and Clinical Sciences, University G
D'Annunzio of Chieti, Chieti, Italy.
6
Neurology Unit, F Tappeiner Hospital of Merano, Merano, Italy.
7
Faculty of Medicine, Section of Physiology and Biochemistry, Department of Experimental Medicine, University of
Perugia, Perugia, Italy.
Myotonies congénitales –Myotonia congenita
94. J Pediatr Neurosci. 2015 Apr-Jun;10(2):169-71. doi: 10.4103/1817-1745.159202.
Schwartz-Jampel syndrome.
1
2
3
1
Chandra SR , Issac TG , Gayathri N , Shivaram S .
1
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
2
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka,
India.
3
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and
electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.
95. Arch Pediatr. 2015 Jul 1. pii: S0929-693X(15)00189-X. doi: 10.1016/j.arcped.2015.05.002. [Epub ahead of
print]
[Brody syndrome: An underdiagnosed cause of muscle stiffness and cramps in children].
[Article in French]
1
2
2
2
Ben Achour N , Kessentini N , Kraoua I , Ben Youssef-Turki I .
1
UR12SP24, service de neurologie de l'enfant et de l'adolescent, Institut national Mongi Ben Hmida de neurologie,
Tunis, Tunisie. Electronic address: [email protected].
2
UR12SP24, service de neurologie de l'enfant et de l'adolescent, Institut national Mongi Ben Hmida de neurologie,
Tunis, Tunisie.
18
LETTER
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome
96. Brain. 2015 Jun 30. pii: awv185. [Epub ahead of print]
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with
dystroglycanopathies.
1
2
1
1
3
4
4
5
6
Belaya K , Rodríguez Cruz PM , Liu WW , Maxwell S , McGowan S , Farrugia ME , Petty R , Walls TJ , Sedghi M ,
7
8
9
10
11
12
5
10
13
10
Basiri K , Yue WW , Sarkozy A , Bertoli M , Pitt M , Kennett R , Schaefer A , Bushby K , Parton M , Lochmüller H ,
12
14
15
Palace J , Muntoni F , Beeson D .
1
1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine,
University of Oxford, Oxford, OX3 9DS, UK.
2
University of Oxford, Oxford, OX3 9DS, UK 2 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital,
Oxford, OX3 9DU, UK.
3
3 Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford,
OX3 9DS, UK.
4
4 Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
5
5 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
6
6 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
7
7 Neurology Department, Neuroscience Research Centre, Isfahan University of Medical Sciences, Isfahan, Iran.
8
8 Structural Genomics Consortium, University of Oxford, Oxford, OX3 7DQ, UK.
9
9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular
Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 10 MRC Centre for Neuromuscular Diseases,
UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
10
9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular
Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
11
11 Department of Clinical Neurophysiology, Great Ormond Street Hospital for children NHS foundation trust, London
WC1N 3JH.
12
2 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
13
10 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and
Neurosurgery, Queen Square, London, UK.
14
12 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Institute of Child Health,
London, WC1N 1EH, UK.
15
University of Oxford, Oxford, OX3 9DS, UK [email protected].
Dystrophies musculaires (plusieurs pathologies) - Muscular dystrophies (several diseases)
97. J Pediatr Ophthalmol Strabismus. 2015 Jul 21:1-6. doi: 10.3928/01913913-20150714-01. [Epub ahead of print]
Ophthalmological Findings of Turkish Children With Muscular Dystrophies.
Ozer PA, Kabatas EU, Ertugrul GT, Kurtul BE, Aksoy A, Yuksel D, Ozkan M.
98. J Neurophysiol. 2015 Jul 15:jn.00538.2015. doi: 10.1152/jn.00538.2015. [Epub ahead of print]
Zebrafish Needle EMG: a New Tool for High-throughput Drug Screens.
1
2
1
2
2
3
Cho SJ , Nam TS , Byun D , Choi SY , Kim MK , Kim S .
1
Gwangju Institute of Science and Technology (GIST).
2
Chonnam National University Medical School.
3
Gwangju Inst. Science and Technology (GIST) [email protected].
Aerobic exercise in muscular dystrophy: Gain without pain.
1
2
Ensrud E , Kissel JT .
1
From the Boston VA Health Care System and Brigham and Women's Hospital (E.E.), MA; and The Ohio State
University (J.T.K.), Columbus.
19
2
University (J.T.K.), Columbus. [email protected].
EDITORIAL
100.
Nat Commun. 2015 Jul 7;6:7713. doi: 10.1038/ncomms8713.
MicroRNA-431 accelerates muscle regeneration and ameliorates muscular dystrophy by targeting Pax7 in mice.
1
1
1
1
1
1
1
2
1
1
Wu R , Li H , Zhai L , Zou X , Meng J , Zhong R , Li C , Wang H , Zhang Y , Zhu D .
1
The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of
Medical Sciences and School of Basic Medicine, Peking Union Medical College, 5 Dong Dan San Tiao, Beijing 100005,
China.
2
Gladstone Institute of Cardiovascular Disease, Roddenberry Center for Stem Cell Biology and Medicine, 1650 Owens
Street, San Francisco, California 94158, USA.
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
101.
Neurology. 2015 Jul 17. pii: 10.1212/WNL.0000000000001857. [Epub ahead of print]
Cost-effectiveness of shared medical appointments for neuromuscular patients.
1
2
2
2
2
Seesing FM , Groenewoud HJ , Drost G , van Engelen BG , van der Wilt GJ .
1
From the Departments of Neurology (F.M.S., G.D., B.G.M.v.E.) and Health Evidence (H.J.G., G.J.v.d.W.), Radboud
University Medical Centre, Nijmegen; and the Departments of Neurology and Neurosurgery (G.D.), University of
Groningen, University Medical Center Groningen, the Netherlands. [email protected].
2
From the Departments of Neurology (F.M.S., G.D., B.G.M.v.E.) and Health Evidence (H.J.G., G.J.v.d.W.), Radboud
University Medical Centre, Nijmegen; and the Departments of Neurology and Neurosurgery (G.D.), University of
Groningen, University Medical Center Groningen, the Netherlands.
102.
Assist Technol. 2015 Jul 17. [Epub ahead of print]
Exploring the Psychosocial Impact of Wheelchair and Contextual Factors on Quality of Life of People with
Neuromuscular Disorders.
1
Pousada García T , Groba González B, Nieto Rivero L, Pereira Loureiro J, Díez Villoria E.
1
a Faculty of Health Science , University of A Coruña. As Xuvias , Coruña , Spain.
103.
IEEE Trans Neural Syst Rehabil Eng. 2015 Jul 9. [Epub ahead of print]
Single-Channel EMG Classification With Ensemble-Empirical-Mode-Decomposition-Based ICA for Diagnosing
Neuromuscular Disorders.
Naik G, Selvan S, Nguyen H.
104.
Eur J Phys Rehabil Med. 2015 Jul 9. [Epub ahead of print]
Physical rehabilitation for critical illness myopathy and neuropathy. An abridged version of Cochrane
Systematic Review.
1
Mehrholz J , Pohl M, Kugler J, Burridge J, Mückel S, Elsner B.
1
Wissenschaftliches Institut, Private Europäische Medizinische Akademie der Klinik Bavaria in Kreischa GmbH,
Kreischa, Germany - [email protected].
105.
J Neurol. 2015 Jul 4. [Epub ahead of print]
Development of a new scale for dysphagia in patients with progressive neuromuscular diseases: the
Neuromuscular Disease Swallowing Status Scale (NdSSS).
1
Wada A , Kawakami M, Liu M, Otaka E, Nishimura A, Liu F, Otsuka T.
1
Department of Rehabilitation Medicine, National Higashisaitama Hospital, Saitama, Japan.
20
106.
Qual Life Res. 2015 Jul 4. [Epub ahead of print]
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease.
1
Dany A , Barbe C, Rapin A, Réveillère C, Hardouin JB, Morrone I, Wolak-Thierry A, Dramé M, Calmus A, Sacconi S,
Bassez G, Tiffreau V, Richard I, Gallais B, Prigent H, Taiar R, Jolly D, Novella JL, Boyer FC.
1
University of Reims Champagne-Ardenne, Reims, France, [email protected].
107.
Am J Phys Med Rehabil. 2015 Jul 1. [Epub ahead of print]
Sleep Transcutaneous vs. End-Tidal CO2 Monitoring for Patients with Neuromuscular Disease.
1
Won YH , Choi WA, Lee JW, Bach JR, Park J, Kang SW.
1
From the Department of Physical Medicine and Rehabilitation, Research Institute of Clinical Medicine, and Institute for
Medical Science, Chonbuk National University Medical School and Hospital, Jeonju, South Korea (YHW); Department of
Rehabilitation Medicine, Gangnam Severance Hospital, Rehabilitation Institute of Neuromuscular Disease, Yonsei
University College of Medicine, Seoul, South Korea (WAC, JWL, S-WK); Department of Physical Medicine and
Rehabilitation, Rutgers New Jersey Medical School, University Hospital, Newark, New Jersey (JRB); Department of
Physical Medicine and Rehabilitation, SRC Rehabilitation Hospital, Gwangju, South Korea (JP); and Yonsei University
Graduate School of Medicine, Seoul, South Korea (YHW, S-WK).
108.
World J Stem Cells. 2015 Jun 26;7(5):823-38. doi: 10.4252/wjsc.v7.i5.823.
Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.
1
1
1
Yanovsky-Dagan S , Mor-Shaked H , Eiges R .
1
Shira Yanovsky-Dagan, Hagar Mor-Shaked, Rachel Eiges, Stem Cell Research Laboratory, Medical Genetics Institute,
Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem 91031, Israel.
*
*
*
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
Mol Med Rep. 2015 Jul 8. doi: 10.3892/mmr.2015.4065. [Epub ahead of print]
Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
1
2
2
2
2
Zhang L , Shen H , Zhao Z , Bing Q , Hu J .
1
Department of Cardiovascular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051,
P.R. China.
2
Department of Neuromuscular Disorders, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei 050051,
P.R. China.
Gastro-entérologie / Nutrition- Gastro-enterolgy / Nutrition
J Neurol. 2015 Jul 4. [Epub ahead of print]
Development of a new scale for dysphagia in patients with progressive neuromuscular diseases: the
Neuromuscular Disease Swallowing Status Scale (NdSSS).
1
Wada A , Kawakami M, Liu M, Otaka E, Nishimura A, Liu F, Otsuka T.
1
Department of Rehabilitation Medicine, National Higashisaitama Hospital, Saitama, Japan.
Pneumologie - Pneumology
BMJ Case Rep. 2015 Jul 9;2015. pii: bcr2015209716. doi: 10.1136/bcr-2015-209716.
Intermittent daytime mouthpiece ventilation successfully augments nocturnal non-invasive ventilation,
controlling ventilatory failure and maintaining patient independence.
1
1
1
1
Ward K , Ford V , Ashcroft H , Parker R .
1
Liverpool Centre for Sleep and Ventilation, Aintree University Hospital, Liverpool, Merseyside, UK.
Am J Phys Med Rehabil. 2015 Jul 1. [Epub ahead of print]
Sleep Transcutaneous vs. End-Tidal CO2 Monitoring for Patients with Neuromuscular Disease.
1
Won YH , Choi WA, Lee JW, Bach JR, Park J, Kang SW.
1
From the Department of Physical Medicine and Rehabilitation, Research Institute of Clinical Medicine, and Institute for
Medical Science, Chonbuk National University Medical School and Hospital, Jeonju, South Korea (YHW); Department of
Rehabilitation Medicine, Gangnam Severance Hospital, Rehabilitation Institute of Neuromuscular Disease, Yonsei
University College of Medicine, Seoul, South Korea (WAC, JWL, S-WK); Department of Physical Medicine and
Rehabilitation, Rutgers New Jersey Medical School, University Hospital, Newark, New Jersey (JRB); Department of
Physical Medicine and Rehabilitation, SRC Rehabilitation Hospital, Gwangju, South Korea (JP); and Yonsei University
Graduate School of Medicine, Seoul, South Korea (YHW, S-WK).
Médecine physique et de réadaptation - Physical and rehabilitation medicine
The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A
controlled clinical trial.
1
Kilinc M , Yildirim SA, Tan E.
1
Department of Physical Therapy and Rehabilitation, Faculty of Health Sciences, Hacettepe University, Ankara, Turkey.
E-mail: [email protected].
Eur J Phys Rehabil Med. 2015 Jul 9. [Epub ahead of print]
Physical rehabilitation for critical illness myopathy and neuropathy. An abridged version of Cochrane
Systematic Review.
1
Mehrholz J , Pohl M, Kugler J, Burridge J, Mückel S, Elsner B.
1
Wissenschaftliches Institut, Private Europäische Medizinische Akademie der Klinik Bavaria in Kreischa GmbH,
Kreischa, Germany - [email protected].
22
Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study.
1
2
2
2
2
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EDITORIAL
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1
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2
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23

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