Veille bibliographique sur les maladies

Transcription

Veille bibliographique
sur les maladies neuromusculaires
Bibliographic alert on neuromuscular disorders
n° 2014-07-1 du 19 juin au 3 juillet 2014 (June 19 – July 3, 2014)
Publiée tous les 15 jours par le service de documentation de l'AFMTÉLÉTHON, 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’AFMTÉLÉTHON et mise à jour en octobre 2012. Elle est susceptible d’évoluer au
e
regard du périmètre de la future filière neuromusculaire en cours d'élaboration dans le cadre du 2 Plan National
Maladies Rares.
Every two weeks, you will find in the Bibliographic 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 AFMTÉLÉTHON. This list will expand based on
e
the evolution of the "2 Plan national maladies rares".
Sommaire par maladies / diseases
Amyotrophies spinales - Spinal muscular atrophies .................................................................................. 1
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA) ............... 2
Canalopathies musculaires- Muscular Channelopathies ........................................................................... 2
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease .............................................................. 3
Dystrophies musculaires congénitales - Congenital muscular dystrophies ............................................ 4
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies .......................................... 5
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker Dystrophinopathies ......................................................................................................................................... 6
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 7
Dystrophie musculaire facio-scapulo-humérale - Facioscapulohumeral muscular dystrophy (FSHD). 8
Dystrophies myotoniques - Myotonic dystrophies...................................................................................... 8
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva..................................... 8
Laminopathies - Laminopathies .................................................................................................................... 8
Maladie de Pompe – Pompe disease ............................................................................................................. 8
Myasthénie autoimmune– Myasthenia Gravis ........................................................................................... 10
Myopathies congénitales – Congenital Myopathies .................................................................................. 12
Myopathies distales – Distal myopathies ................................................................................................... 12
Myopathies inflammatoires - Inflammatory myopathies ........................................................................... 13
Myopathies métaboliques - Metabolic myopathies ................................................................................... 14
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome ...................................... 15
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) ........... 15
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 16
Sommaire par spécialités / specialties
Cardiologie - Cardiology............................................................................................................................... 18
Pneumologie - Pneumology ......................................................................................................................... 18
Amyotrophies spinales - Spinal muscular atrophies
1. Ann Otol Rhinol Laryngol. 2014 Jun 24. pii: 0003489414539130. [Epub ahead of print]
Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy.
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Oonk AM , Ekker MS , Huygen PL , Kunst HP , Kremer H , Schelhaas JJ , Pennings RJ .
1
Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Centre, Nijmegen, the Netherlands
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, the Netherlands
[email protected].
2
Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Centre, Nijmegen, the Netherlands.
3
Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, the Netherlands.
4
Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.
5
Expertise Centre for Epileptology, Sleep Medicine and Neurocognition, Kempenhaege, Heeze, the Netherlands.
AFM-Téléthon>Myodoc - 04/07/2014
1
Amyotrophie spinale proximale liée à SMN1 - SMN1 related spinal muscular atrophy (SMA)
2. PLoS One. 2014 Jul 1;9(7):e101225. doi: 10.1371/journal.pone.0101225. eCollection 2014.
The smn-independent beneficial effects of trichostatin a on an intermediate mouse model of spinal muscular
atrophy.
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2
1
3
Liu H , Yazdani A , Murray LM , Beauvais A , Kothary R .
1
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
2
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Department of Cellular
and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.
3
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Department of Cellular
and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada; Department of Medicine, University of Ottawa,
Ottawa, Ontario, Canada.
.
3.
Mol Cell Neurosci. 2014 Jun 28. pii: S1044-7431(14)00067-0. doi: 10.1016/j.mcn.2014.06.006. [Epub ahead of
print]
Autophagy dysregulation in cell culture and animals models of Spinal Muscular Atrophy.
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2
Custer SK , Androphy EJ .
1
Indiana University School of Medicine, Department of Dermatology, Walther Hall, R3 C636, Indianapolis, IN 46202.
2
Indiana University School of Medicine, Department of Dermatology, Walther Hall, R3 C636, Indianapolis, IN 46202.
Electronic address: [email protected].
4. Dis Model Mech. 2014 Jul;7(7):799-809.
Fishing for causes and cures of motor neuron disorders.
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1
1
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1
3
Patten SA , Armstrong GA , Lissouba A , Kabashi E , Parker JA , Drapeau P .
1
Department of Neuroscience, FRQS Groupe de Recherche sur le Système Nerveux Central and CRCHUM, University
of Montréal, Montréal, QC H3A 2B4, Canada.
2
Institut du Cerveau et de la Moelle Épinière, Centre de Recherche, CHU Pitié-Salpétrière, 75013 Paris, France.
3
Department of Neuroscience, FRQS Groupe de Recherche sur le Système Nerveux Central and CRCHUM, University
of Montréal, Montréal, QC H3A 2B4, Canada. [email protected].
5. Brain. 2014 Jun 25. pii: awu169. [Epub ahead of print]
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
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3
Peeters K , Chamova T , Jordanova A .
1
1 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen 2610,
Belgium2 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium
[email protected].
2
3 Department of Neurology, Medical University-Sofia, Sofia 1000, Bulgaria [email protected].
3
1 Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen 2610,
Belgium2 Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium4
Department of Medical Chemistry and Biochemistry, Molecular Medicine Centre, Medical University-Sofia, Sofia 1431,
Bulgaria.
Canalopathies musculaires- Muscular Channelopathies
6. Rinsho Shinkeigaku. 2014;54(5):434-9.
Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V
mutation.
1
Shiga K , Mizuta I, Noto Y, Nakagawa M, Sasaki R, Yamawaki M.
1
Department of Medical Education, Kyoto Prefectural University of Medicine.
7. BMJ Case Rep. 2014 Jun 17;2014. pii: bcr2014204430. doi: 10.1136/bcr-2014-204430.
Focal and abnormally persistent paralysis associated with congenital paramyotonia.
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1
Magot A , David A , Sternberg D , Péréon Y .
2
1
Centre de Référence Maladies Neuromusculaires Nantes-Angers, Nantes, France.
Service de génétique médicale, Nantes, France.
3
Centre de Référence des Canalopathies Musculaires, Service de Biochimie Métabolique, ICM UMR_S975, Paris,
France.
2
8. J Gen Physiol. 2014 Jul 14. pii: jgp.201411199. [Epub ahead of print]
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic
periodic paralysis.
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1
2
Mi W , Rybalchenko V , Cannon SC .
1
Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390.
2
Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390
[email protected].
9. Physiol Genomics. 2014 Jun 1;46(11):385-97. doi: 10.1152/physiolgenomics.00166.2013. Epub 2014 Apr 8.
Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4
channels do not correlate with Na+ influx or channel content.
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Lucas B , Ammar T , Khogali S , DeJong D , Barbalinardo M , Nishi C , Hayward LJ , Renaud JM .
1
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada; and.
2
Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts.
3
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada; and
[email protected].
10. Cell Mol Neurobiol. 2014 Jul;34(5):707-14. doi: 10.1007/s10571-014-0052-y. Epub 2014 Mar 29.
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic
paralysis.
1
Wu L , Zhang B, Kang Y, Wu W.
1
Department of Neurology, The Second Affiliated Hospital of Medical School, Zhejiang University, Jiefang Road 88,
Hangzhou, 310009, China.
Maladie de Charcot-Marie-Tooth - Charcot-Marie-Tooth disease
11. Eur J Phys Rehabil Med. 2014 Jul 1. [Epub ahead of print]
Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal CharcotMarie-Tooth neuropathy (AR-CMT2).
1
Tiffreau V , Allart E, Dangleterre C, Boutry N, Petit F, Cuisset JM, Thevenon A.
1
Center for Neuromuscular Disorders, Department of Physical and Rehabilitation Medicine, LilleUniversity Medical
Centre and University of Lille Nord de France, F--59037 Lille cedex, France - [email protected].
12. Eur J Orthop Surg Traumatol. 2014 Jun 27. [Epub ahead of print]
Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular
polyneuropathy: questionnaire assessment.
1
Napiontek M , Pietrzak K.
1
Ortop Poliklinika, Poznan, Poland, [email protected].
13. Pediatrics. 2014 Jul;134(1):e270-3. doi: 10.1542/peds.2012-3243.
Charcot-marie-tooth disease masquerading as acute demyelinating encephalomyelitis-like illness.
1
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4
Kim GH , Kim KM , Suh SI , Ki CS , Eun BL .
1
Departments of Pediatrics, and.
2
Radiology, Korea University College of Medicine, Seoul, Korea; and.
3
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of
Medicine, Seoul, Korea.
4
Departments of Pediatrics, and [email protected].
3
14. JAMA Neurol. 2014 Jun 23. doi: 10.1001/jamaneurol.2014.629. [Epub ahead of print]
Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features.
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Bombelli F , Stojkovic T , Dubourg O , Echaniz-Laguna A , Tardieu S , Larcher K , Amati-Bonneau P , Latour P , Vignal
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O , Cazeneuve C , Brice A , Leguern E .
1
Groupe Hospitalier (GH) Pitié-Salpêtrière, Centre de Référence des Maladies Neuromusculaires Paris Est, Institut de
Myologie, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
2
Département de Neurologie, Hôpitaux Universitaires, Centre Hospitalier Universitaire (CHU) de Strasbourg, Strasbourg,
France.
3
Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France.
4
Département de Biochimie et Génétique, CHU Angers, Angers, France.
5
Département de Biochimie, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France.
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Service d'Ophtalmologie, Fondation Rothschild, Paris, France.
7
Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la
Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris,
France.
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Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la
Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris,
France8Université Pi.
Importance:
15. Neuromuscul Disord. 2014 Jun;24(6):516-23. doi: 10.1016/j.nmd.2014.03.010. Epub 2014 Mar 28.
The role of the prefrontal cortex in the development of muscle fatigue in Charcot-Marie-Tooth 1A patients.
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Menotti F , Berchicci M , Di Russo F , Damiani A , Vitelli S , Macaluso A .
1
Department of Human Movement, Social and Health Sciences, University of Rome Foro Italico, Rome, Italy.
2
Department of Human Movement, Social and Health Sciences, University of Rome Foro Italico, Rome, Italy;
Neuropsychology Lab, IRCCS Santa Lucia Foundation, Rome, Italy.
3
Unione Italiana Lotta alla Distrofia Muscolare (UILDM), Sezione Laziale, Rome, Italy.
4
Department of Human Movement, Social and Health Sciences, University of Rome Foro Italico, Rome, Italy. Electronic
address: [email protected].
Dystrophies musculaires congénitales - Congenital muscular dystrophies
16. Pediatr Phys Ther. 2014 Fall;26(3):360-5. doi: 10.1097/PEP.0000000000000064.
Balance outcomes following a tap dance program for a child with congenital myotonic muscular dystrophy.
1
Biricocchi C , Drake J, Svien L.
1
Department of Physical Therapy, University of South Dakota, Vermillion, South Dakota.
17. Arch Phys Med Rehabil. 2014 Jun 25. pii: S0003-9993(14)00436-5. doi: 10.1016/j.apmr.2014.06.005. [Epub
ahead of print]
Rasch Analysis of the Motor Function Measure in Patients with Congenital Muscle Dystrophy and Congenital
Myopathy.
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Vuillerot C , Rippert P , Kinet V , Renders A , Jain M , Waite M , Glanzman AM , Girardot F , Hamroun D , Iwaz J ,
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Ecochard R , Quijano-Roy S , Bérard C , Poirot I , Bönnemann CG ; CDM MFM study group.
1
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, L'Escale, Service de Médecine Physique et de Réadaptation
Pédiatrique, Bron, F-69500, France; Université de Lyon, Lyon, F-69000, France; Université Lyon I, Villeurbanne, F69100, France; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, PierreBénite, F-69310, France; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda,
MD 20814, USA. Electronic address: [email protected].
2
Hospices Civils de Lyon, Pôle Information Médicale, Évaluation, Recherche, Lyon, F-69003, France.
3
Cliniques Universitaires Saint-Luc, Centre de Référence des maladies neuromusculaires, Université Catholique de
Louvain, B- 1200, Bruxelles, Belgique.
4
Clinical Research Center, Bethesda, National Institutes of Health, MD 20814, USA.
5
The Children's Hospital of Philadelphia, Physical Therapy Department, Philadelphia, PA 19104-4399, USA.
6
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, L'Escale, Service de Médecine Physique et de Réadaptation
Pédiatrique, Bron, F-69500, France.
7
Centre Hospitalo-Universitaire de Montpellier, Hôpital Arnaud de Villeneuve, F-34000, Montpellier, France.
8
Université de Lyon, Lyon, F-69000, France; Université Lyon I, Villeurbanne, F-69100, France; CNRS UMR 5558,
Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, Pierre-Bénite, F-69310, France; Hospices
Civils de Lyon, Service de Biostatistique, Lyon, F-69003, France.
4
9
AP-HP, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle pédiatrique, Centre de Référence Maladies
Neuromusculaires (GNMH), Hôpital Raymond Poincaré, Garches ; Université Versailles Saint-Quentin UVSQ, France.
10
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA.
18. Mol Ther Nucleic Acids. 2014 Jun 24;3:e171. doi: 10.1038/mtna.2014.22.
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular
Dystrophy Fibroblasts.
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1
Noguchi S , Ogawa M , Kawahara G , Malicdan MC , Nishino I .
1
1] Department of Neuromuscular Research, National Institute of Neuroscience, Translational Medical Center, National
Center of Neurology and Psychiatry, Tokyo, Japan [2] Department of Clinical Development, Translational Medical
Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
2
Department of Neuromuscular Research, National Institute of Neuroscience, Translational Medical Center, National
Center of Neurology and Psychiatry, Tokyo, Japan.
3
Center of Neurology and Psychiatry, Tokyo, Japan [2] Division of Genetics, Program in Genomics, Children's Hospital
Boston, Boston, Massachusetts, USA.
4
Center of Neurology and Psychiatry, Tokyo, Japan [2] Medical Genetics Branch, National Human Genome Research
Institute, National Institutes of Health, Bethesda, Maryland, USA.
19. J Neurol Neurosurg Psychiatry. 2014 Jun 17. pii: jnnp-2013-307052. doi: 10.1136/jnnp-2013-307052. [Epub
ahead of print]
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
1
2
Yonekawa T , Nishino I .
1
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and
Psychiatry (NCNP), Kodaira, Tokyo, Japan Department of Child Neurology, National Center Hospital, NCNP, Kodaira,
Tokyo, Japan.
2
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and
Psychiatry (NCNP), Kodaira, Tokyo, Japan Department of Clinical Development, Translational Medical Center, NCNP.
Dystrophies musculaires des ceintures - Limb girdle muscular dystrophies
20. Arq Neuropsiquiatr. 2014 Jun;72(6):481.
Limb-girdle muscular dystrophy in Brazilian children: clinical, histological and molecular characterization.
Albuquerque MA.
21. Neuromuscul Disord. 2014 Jun 2. pii: S0960-8966(14)00134-5. doi: 10.1016/j.nmd.2014.05.008. [Epub ahead
of print]
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral
neuropathy.
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1
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4
Chan SH , Reghan Foley A , Phadke R , Mathew AA , Pitt M , Sewry C , Muntoni F .
1
Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH,
United Kingdom.
2
Department of Clinical Neurophysiology, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom.
3
United Kingdom; RJAH Orthopaedic Hospital, Oswestry SY10 7AG, United Kingdom.
4
United Kingdom. Electronic address: [email protected].
5
Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker
- Dystrophinopathies
22. Front Cell Dev Biol. 2014 Jan 30;2(1). pii: 00001.
Muscle satellite cell heterogeneity and self-renewal.
Motohashi N, Asakura A.
Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, Stem Cell Institute, University of
Minnesota Medical School, Minneapolis, MN, USA.
23. Exp Physiol. 2014 Jun 27. [Epub ahead of print]
Amitriptyline is efficacious in ameliorating muscle inflammation and depressive symptoms in the mdx mouse
model of Duchenne muscular dystrophy.
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Manning J , Kulbida R , Rai P , Jensen L , Bouma J , Singh SP , O'Malley D , Yilmazer-Hanke D .
1
Department of Physiology, University College Cork, Cork, Ireland Department of Anatomy & Neuroscience, University
College Cork, Cork, Ireland.
2
Department of Anatomy & Neuroscience, University College Cork, Cork, Ireland.
3
Department of Biomedical Sciences, Creighton University, School of Medicine, Omaha, USA Department of Neurology,
Creighton University, School of Medicine, Omaha, USA.
4
Department of Neurology, Creighton University, School of Medicine, Omaha, USA.
5
Department of Biomedical Sciences, Creighton University, School of Medicine, Omaha, USA.
6
Department of Physiology, University College Cork, Cork, Ireland [email protected]
[email protected].
7
Department of Anatomy & Neuroscience, University College Cork, Cork, Ireland Department of Biomedical Sciences,
Creighton University, School of Medicine, Omaha, USA [email protected] [email protected].
24. Proc Natl Acad Sci U S A. 2014 Jun 26. pii: 201402544. [Epub ahead of print]
Impaired functional communication between the L-type calcium channel and mitochondria contributes to
metabolic inhibition in the mdx heart.
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3
4
3
5
Viola HM , Adams AM , Davies SM , Fletcher S , Filipovska A , Hool LC .
1
School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, WA 6009, Australia;
2
Western Australian Neuroscience Research Institute and Centre for Neuromuscular and Neurological Disorders, The
University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia;
3
Harry Perkins Institute for Medical Research, The University of Western Australia, Perth, WA 6000, Australia;
4
University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia;Centre for Comparative Genomics,
Murdoch University, Murdoch, WA 6150, Australia; and.
5
School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, WA 6009,
Australia;Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia [email protected].
of print]
Predictive factors for masticatory performance in Duchenne muscular dystrophy.
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2
5
van Bruggen HW , van de Engel-Hoek L , Steenks MH , Bronkhorst EM , Creugers NH , de Groot IJ , Kalaykova SI .
1
Department of Oral Function and Prosthetic Dentistry, College of Dental Science, Radboud University Medical Center,
Nijmegen, The Netherlands; Department of Oral-Maxillofacial Surgery, Prosthodontics and Special Dental Care,
University Medical Center Utrecht, The Netherlands. Electronic address: [email protected].
2
Department of Rehabilitation, Radboud University Medical Center, Nijmegen, The Netherlands.
3
Nijmegen, The Netherlands; Department of Oral-Maxillofacial Surgery, Prosthodontics and Special Dental Care,
University Medical Center Utrecht, The Netherlands.
4
Department of Preventive and Restorative Dentistry, College of Dental Science, Radboud University Medical Center,
Nijmegen, The Netherlands.
5
Nijmegen, The Netherlands.
6
26. Indian J Anaesth. 2014 Mar;58(2):219-21. doi: 10.4103/0019-5049.130843.
Anaesthetic management of a case of Duchenne muscle dystrophy with Moyamoya disease.
Bhutia MP, Pandia MP, Rai A.
Department of Neuroanaesthesia, All India Institute of Medical Sciences, New Delhi, India.
27. Neuromuscul Disord. 2014 May 28. pii: S0960-8966(14)00081-9. doi: 10.1016/j.nmd.2014.03.006. [Epub ahead
of print]
Biomarkers and surrogate endpoints in Duchenne: Meeting report.
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2
3
Aartsma-Rus A , Ferlini A , Vroom E .
1
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
[email protected].
2
Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
3
United Parent Project Muscular Dystrophy, The Netherlands.
28. Cell Mol Life Sci. 2014 Jun 20. [Epub ahead of print]
Recovery of altered neuromuscular junction morphology and muscle function in mdx mice after injury.
1
Pratt SJ , Shah SB, Ward CW, Kerr JP, Stains JP, Lovering RM.
1
Department of Orthopaedics, University of Maryland School of Medicine, 100 Penn St. AHB, Room 540, Baltimore, MD,
21201, USA.
29. Stem Cell Rev. 2014 Jun 19. [Epub ahead of print]
Human Adipose Tissue Derived Pericytes Increase Life Span in Utrn tm1Ked Dmd mdx /J Mice.
1
Valadares MC , Gomes JP, Castello G, Assoni A, Pellati M, Bueno C, Corselli M, Silva H, Bartolini P, Vainzof M,
Margarido PF, Baracat E, Péault B, Zatz M.
1
Human Genome and stem-cell Center, Institute of Biosciences, University of São Paulo, Rua do Matāo 106, São Paulo,
CEP 05508-030, Brazil.
30. Gene Ther. 2014 Jun 19. doi: 10.1038/gt.2014.53. [Epub ahead of print]
Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage
dystrophic dko mice.
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1
1
1
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2
1
Wu B , Cloer C , Lu P , Milazi S , Shaban M , Shah SN , Marston-Poe L , Moulton HM , Lu QL .
1
McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Department of Neurology,
Carolinas Medical Center, Charlotte, NC, USA.
2
Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, USA.
31. Nat Rev Neurol. 2014 Jun 24. doi: 10.1038/nrneurol.2014.116. [Epub ahead of print]
Neuromuscular disease: Caspase-4 is a potential therapeutic target for Duchenne muscular dystrophy.
[No authors listed]
Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies
32. Europace. 2014 Jun 19. pii: euu146. [Epub ahead of print]
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial
function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy.
1
2
Russo V , Nigro G .
1
Chair of Cardiology, Second University of Naples-Monaldi Hospital, 80131 Piazzale Ettore Ruggeri, Naples, Italy
[email protected].
2
Chair of Cardiology, Second University of Naples-Monaldi Hospital, 80131 Piazzale Ettore Ruggeri, Naples, Italy.
LETTER
7
Dystrophie musculaire facio-scapulo-humérale - Facioscapulohumeral muscular dystrophy
(FSHD)
33. Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014.
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
1
2
3
Tawil R , van der Maarel SM , Tapscott SJ .
1
Department of Neurology, University of Rochester, Rochester, NY 14642, USA ; Fred Hutchinson Cancer Research
Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.
2
Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands ; Fred
Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.
3
Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
; Department of Neurology, University of Washington, Seattle, WA 98105, USA ; Fred Hutchinson Cancer Research
Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.
Dystrophies myotoniques - Myotonic dystrophies
34. Ann Noninvasive Electrocardiol. 2014 Jun 18. doi: 10.1111/anec.12168. [Epub ahead of print]
Unmasked Brugada Pattern by Ajmaline Challenge in Patients with Myotonic Dystrophy Type 1.
1
Pambrun T , Bortone A, Bois P, Degand B, Patri S, Mercier A, Chahine M, Chatelier A, Coisne D, Amiel A.
1
Cardiology Department, University Hospital of Poitiers, Poitiers, France; Cardiology Department, Les Franciscaines
Private Hospital, Nîmes, France.
35. ChemMedChem. 2014 Jun 17. doi: 10.1002/cmdc.201402095. [Epub ahead of print]
Small Molecules that Target the Toxic RNA in Myotonic Dystrophy Type 2.
1
Nguyen L , Lee J, Wong CH, Zimmerman SC.
1
Department of Chemistry, University of Illinois at Urbana-Champaign, 600 S. Mathews Ave., Urbana, IL 61801 (USA).
Fibrodysplasie ossifiante progressive - Fibrodysplasia ossificans progressiva
36. J Contemp Dent Pract. 2014 Jan 1;15(1):112-126.
Clinical Aspects and Conservative Dental Management of a Patient with Fibrodysplasia Ossifcans Progressiva.
1
1
2
3
4
4
Forte FA Oliveira , Fernandes CP , Barbosa KS Araujo , Nunes Alves AP , Sousa FB , Lima Mota MR .
1
Doctorate Student, Department of Stomatology and Oral Pathology Federal University of Ceara, Ceara, Brazil.
2
Undergraduate Dental Student,, Department of Stomatology and Oral Pathology Federal University of Ceara, Ceara,
Brazil.
3
Associate Professor, Department of Oral Pathology, Federal University of Ceara Ceara, Brazil.
4
Associate Professor, Department of Stomatology and Oral Pathology Federal University of Ceara, Ceara, Brazil.
Laminopathies - Laminopathies
37. Int J Biochem Cell Biol. 2014 Jun 3;53C:271-280. doi: 10.1016/j.biocel.2014.05.035. [Epub ahead of print]
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
1
1
1
2
Kiel T , Busch A , Meyer-Rachner A , Hübner S .
1
Julius-Maximilians-University of Würzburg, Institute of Anatomy and Cell Biology, Würzburg, Germany.
2
Julius-Maximilians-University of Würzburg, Institute of Anatomy and Cell Biology, Würzburg, Germany. Electronic
Maladie de Pompe – Pompe disease
38. Arch Pediatr. 2014 Jun;21(6):561-3. doi: 10.1016/j.arcped.2014.03.013. Epub 2014 Apr 24.
[Should we consider newborn screening for Pompe disease?].
[Article in French]
1
2
Lacombe D , Verloes A .
8
1
Service de génétique médicale, hôpital Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux
cedex, France; EA4576, laboratoire MRGM : maladies rares : génétique et métabolisme, université de Bordeaux, 33076
Bordeaux, France. Electronic address: [email protected].
2
Inserm UMR676, département de génétique médicale, hôpital Robert-Debré, AP-HP, 75019 Paris, France.
39. J Pediatr Endocrinol Metab. 2014 Jul 15. pii: /j/jpem.ahead-of-print/jpem-2014-0107/jpem-2014-0107.xml. doi:
10.1515/jpem-2014-0107. [Epub ahead of print]
Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
Aykut A, Onay H, Kose M, Erbas Canda E, Karaca E, Coker M, Ozkinay F.
40. Mol Biol Rep. 2014 Jun 30. [Epub ahead of print]
A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen
storage disease type II (Pompe disease).
1
Aryani O , Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M.
1
Department of Medical Genetics, Special Medical Center, Tehran, Iran.
41. World J Pediatr Congenit Heart Surg. 2014 Jun 23;5(3):491-493. [Epub ahead of print]
Apical Hypertrophic Cardiomyopathy in an Infant: First Presentation of Pompe's Disease.
1
2
2
2
2
Patra S , Subramaniun A , Mahimaiha J , Sastry UM , Nanjappa MC .
1
Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore, Karnataka, India
[email protected].
2
Department of Cardiology, Sri Jayadeva Institute Cardiovascular Sciences & Research, Bangalore, Karnataka, India.
42. J Neurol. 2014 Jun 13. [Epub ahead of print]
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
1
Hundsberger T , Rösler KM, Findling O.
1
Department of Neurology, Cantonal Hospital St. Gallen, Rorschacherstr. 95, 9007, St. Gallen, Switzerland,
[email protected].
43. J Inherit Metab Dis. 2014 Jun 7. [Epub ahead of print]
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCSLSD cohort study.
1
Anderson LJ , Henley W, Wyatt KM, Nikolaou V, Waldek S, Hughes DA, Lachmann RH, Logan S.
1
Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon,
EX2 4SG, UK, [email protected].
44. PLoS One. 2014 Jun 4;9(6):e98336. doi: 10.1371/journal.pone.0098336. eCollection 2014.
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
1
2
2
2
3
3
4
2
Nayak S , Doerfler PA , Porvasnik SL , Cloutier DD , Khanna R , Valenzano KJ , Herzog RW , Byrne BJ .
1
Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, Florida, United States of
America; Department of Medicine, Center for Infection Medicine, Karolinska Institute, Stockholm, Sweden.
2
Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, Florida, United States of
America.
3
Amicus Therapeutics Inc., Cranbury, New Jersey, United States of America.
4
Department of Pediatrics, Cellular and Molecular Therapy, University of Florida, Gainesville, Florida, United States of
America.
45. J Clin Neuromuscul Dis. 2014 Jun;15(4):152-6. doi: 10.1097/CND.0000000000000029.
Sixty six-month follow-up of muscle power and respiratory function in a case with adult-type pompe disease
treated with enzyme replacement therapy.
1
Isayama R , Shiga K, Seo K, Azuma Y, Araki Y, Hamano A, Takezawa H, Kuriyama N, Takezawa N, Mizuno T,
Nakagawa M.
1
Departments of *Neurology and †Rehabilitation, Kyoto Prefectural University of Medicine, Kyoto, Japan; and ‡Kyoto
Prefectural Support Center of Rehabilitation, Kyoto, Japan.
46. Neuromuscul Disord. 2014 Jul;24(7):648-50. doi: 10.1016/j.nmd.2014.04.005. Epub 2014 Apr 24.
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.
1
2
3
4
5
6
6
7
8
4
Sacconi S , Wahbi K , Theodore G , Garcia J , Salviati L , Bouhour F , Vial C , Duboc D , Laforêt P , Desnuelle C .
1
Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France. Electronic address:
[email protected].
2
Cardiology Department, Cochin Hospital, APHP, Paris, France; Neuromuscular Diseases Specialized Center Paris Est,
Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France.
9
3
Cardiology Department, Pasteur Hospital, CHU Nice, France.
Neuromuscular Diseases Specialized Center, Archet 1 Hospital, CHU Nice, France.
5
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy; IRP città della
Speranza, Padova, Italy.
6
Electromyography and Neuromuscular Pathologies Department Lyon Est, Bron Hospitals, France.
7
Cardiology Department, Cochin Hospital, APHP, Paris, France.
8
Neuromuscular Diseases Specialized Center Paris Est, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France.
4
47. J Inherit Metab Dis. 2014 Jul;37(4):653. doi: 10.1007/s10545-014-9719-2. Epub 2014 May 10.
Arterial stiffness in patients with non-classic Pompe disease: role of antihypertensive drugs and statins.
Varol E.
Tip Fakultesi, Suleyman Demirel Univesitesi, Isparta, Turkey, [email protected].
48. Anal Bioanal Chem. 2014 Jul;406(18):4337-43. doi: 10.1007/s00216-014-7832-6. Epub 2014 May 2.
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
1
Casado M , Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R.
1
Clinical Biochemistry Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950,
Esplugues, Barcelona, Spain.
49. Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30.
Pregnancy and delivery in women with Pompe disease.
1
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3
4
5
6
1
6
4
Karabul N , Berndt J , Kornblum C , Kley RA , Wenninger S , Tiling N , Mengel E , Plöckinger U , Vorgerd M ,
2
5
7
Deschauer M , Schoser B , Hanisch F .
1
Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Langenbeckstr. 2, 55131 Mainz, Germany.
2
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale),
Germany.
3
Department of Neurology, University Hospital of Bonn, Bonn, Germany.
4
Department of Neurology, Neuromuscular Centre Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University
Bochum, Buerkle-de-la-Camp-Platz 1, 44789 Bochum, Germany.
5
Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany.
6
Kompetenzzentrum Seltene Stoffwechselkrankheiten, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum,
Augustenburger Platz 1, 13353 Berlin, Germany.
7
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale),
Germany. Electronic address: [email protected].
50. Muscle Nerve. 2014 Aug;50(2):301-302. doi: 10.1002/mus.24257. Epub 2014 Jul 14.
Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease.
1
Chien YH , Lee NC, Tsai YJ, Thurberg BL, Tsai FJ, Hwu WL.
1
Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University
School of Medicine, Taipei, Taiwan.
Myasthénie autoimmune– Myasthenia Gravis
51. Neurohospitalist. 2014 Jul;4(3):117-8. doi: 10.1177/1941874414522498.
Two cases of Parkinson disease and concurrent myasthenia gravis, generalized and ocular.
1
2
Neuman LA , Cheema FZ .
1
Department of Neurology, Hauenstein Parkinson Center, Mercy Health St Mary's, Grand Rapids, MI, USA.
2
Department of Pulmonary Medicine and Critical Care, Henry Ford Hospital, Detroit, MI, USA.
52. Acta Neurol Scand. 2014 Jul 1. doi: 10.1111/ane.12270. [Epub ahead of print]
Myasthenia gravis incidence in a general North Atlantic isolated population.
Joensen P.
Department of Medicine and Neuro-physiology Laboratory, National Hospital of the Faroe Islands, Torshavn, Faroe
Islands.
53. J Thorac Dis. 2014 Jun;6(6):726-33. doi: 10.3978/j.issn.2072-1439.2014.04.08.
Comparative study of video-assisted thoracic surgery versus open thymectomy for thymoma in one single
center.
10
Yuan ZY, Cheng GY, Sun KL, Mao YS, Li J, Wang YG, Wang DL, Gao SG, Xue Q, Huang JF, Mu JW.
Department of Thoracic Surgical Oncology, Cancer Institute & Hospital, Chinese Academy of Medical Sciences and
Peking Union Medical College, Beijing 100021, China.
BACKGROUND:
54. J Formos Med Assoc. 2014 Jun 25. pii: S0929-6646(14)00181-8. doi: 10.1016/j.jfma.2014.05.010. [Epub ahead
of print]
Thymectomy for myasthenia gravis: Video-assisted versus transsternal.
1
1
1
2
3
Lo CM , Lu HI , Hsieh MJ , Lee SS , Chang JP .
1
Division of Thoracic and Cardiovascular Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University
College of Medicine, Kaohsiung City, Taiwan, ROC.
2
Division of Oncology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine,
Kaohsiung City, Taiwan, ROC.
3
Division of Thoracic and Cardiovascular Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University
College of Medicine, Kaohsiung City, Taiwan, ROC. Electronic address: [email protected].
55. J Immunol. 2014 Jun 27. pii: 1301555. [Epub ahead of print]
Proteasome Inhibition with Bortezomib Depletes Plasma Cells and Specific Autoantibody Production in Primary
Thymic Cell Cultures from Early-Onset Myasthenia Gravis Patients.
1
2
1
1
3
1
4
4
1
Gomez AM , Willcox N , Vrolix K , Hummel J , Nogales-Gadea G , Saxena A , Duimel H , Verheyen F , Molenaar PC ,
1
1
5
5
Buurman WA , De Baets MH , Martinez-Martinez P , Losen M .
1
School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, the Netherlands;
2
Department of Clinical Neurology, University of Oxford, Oxford OX3 9DU, United Kingdom;
[email protected] [email protected] [email protected].
3
School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, the Netherlands; Unidad de
Enfermedades Neuromusculares, Institut de Recerca del Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de
Barcelona, 08913 Barcelona, Spain;
4
Electron Microscopy Unit-Center for Research Innovation, Support and Policy, Maastricht University, 6200 MD
Maastricht, the Netherlands; Department of Molecular Cell Biology, Maastricht University, 6200 MD Maastricht, the
Netherlands.
5
School for Mental Health and Neuroscience, Maastricht University, 6229 ER Maastricht, the Netherlands;
[email protected] [email protected] [email protected].
56. J Autoimmun. 2014 Jun 23. pii: S0896-8411(14)00100-0. doi: 10.1016/j.jaut.2014.06.003. [Epub ahead of print]
Experimental Autoimmune Myasthenia Gravis (EAMG): From immunochemical characterization to therapeutic
approaches.
1
2
3
3
Fuchs S , Aricha R , Reuveni D , Souroujon MC .
1
Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address:
[email protected].
2
Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel.
3
Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel; Department of Natural
Sciences, The Open University of Israel, Raanana, Israel.
57. J Neuroimmunol. 2014 Jun 15;271(1-2):69.
Retraction. Association of transforming growth factor beta-1 (TGFB1) regulatory region polymorphisms with
myasthenia gravis-related ophthalmoparesis.
Akinyi MV, Dandara C, Gamieldien J, Heckmann JM.
58. Immunology. 2014 Jun 24. doi: 10.1111/imm.12347. [Epub ahead of print]
Silencing miR-146a influences B cells and ameliorates experimental autoimmune myasthenia gravis.
1
Zhang J , Jia G, Liu Q, Hu J, Yan M, Yang B, Yang H, Zhou W, Li J.
1
Department of Neurosurgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan,
410008, P. R. China.
11
59. Oncol Lett. 2014 Jul;8(1):317-322. Epub 2014 Apr 25.
Expression and polymorphisms of T cell immunoglobulin domain and mucin domain protein-1 in thymoma with
or without myasthenia gravis.
Zheng K, Xu G, Lu X, Zhang J, Zhang P.
Department of Cardiothoracic Surgery, Tianjin Medical University General Hospital, Heping, Tianjin 300052, P.R. China.
60. Acta Neurol Scand. 2014 Jun 20. doi: 10.1111/ane.12271. [Epub ahead of print]
Antititin antibody in early- and late-onset myasthenia gravis.
1
Szczudlik P , Szyluk B, Lipowska M, Ryniewicz B, Kubiszewska J, Dutkiewicz M, Gilhus NE, Kostera-Pruszczyk A.
1
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Myopathies congénitales – Congenital Myopathies
61. J Clin Invest. 2014 Jun 24. pii: 74994. doi: 10.1172/JCI74994. [Epub ahead of print]
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing
NG, Grange RW, Bassel-Duby R, Olson EN.
62. Neuromuscul Disord. 2014 May 23. pii: S0960-8966(14)00129-1. doi: 10.1016/j.nmd.2014.05.003. [Epub ahead
of print]
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.
1
1
2
1
3
4
5
6
1
7
Illingworth MA , Main M , Pitt M , Feng L , Sewry CA , Gunny R , Vorstman E , Beeson D , Manzur A , Muntoni F ,
1
Robb SA .
1
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.
2
Department of Clinical Neurophysiology, Great Ormond Street Hospital, London, UK.
3
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK;
Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK.
4
Department of Radiology, Great Ormond Street Hospital, London, UK.
5
Department of Paediatrics, Gloucester Royal Hospital, Gloucester, UK.
6
Weatherall Institute, John Radcliffe Hospital, Oxford, UK.
7
Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.
Electronic address: [email protected].
63. Pediatr Neurol. 2014 Apr 28. pii: S0887-8994(14)00266-5. doi: 10.1016/j.pediatrneurol.2014.04.024. [Epub
ahead of print]
Ryanodine Myopathies Without Central Cores-Clinical, Histopathologic, and Genetic Description of Three
Cases.
1
2
2
3
3
4
Rocha J , Taipa R , Melo Pires M , Oliveira J , Santos R , Santos M .
1
Department of Neurology, Hospital de Braga, Braga, Portugal. Electronic address: [email protected].
2
Neuropathology Unit, Centro Hospitalar do Porto, Porto, Portugal.
3
Medical Genetics Unit, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.
4
Neuromuscular Diseases Unit, Department of Pediatric Neurology, Centro Hospitalar do Porto, Porto, Portugal.
Myopathies distales – Distal myopathies
64. Indian J Anaesth. 2014 Mar;58(2):228-30. doi: 10.4103/0019-5049.130853.
Anaesthetic management of a case of distal myopathy.
Agrawal N, Sharma A, Batra R.
Department of Anaesthesiology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
12
of print]
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial
cardiac variability and putative anticipation.
1
2
3
4
4
2
Finsterer J , Brandau O , Stöllberger C , Wallefeld W , Laing NG , Laccone F .
1
Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: [email protected].
2
Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.
3
2nd Medical Department with Cardiology and Intensive Care Medicine Krankenanstalt Rudolfstiftung, Vienna, Austria.
4
Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII
Medical Centre, Nedlands, Western Australia 6009, Australia.
Myopathies inflammatoires - Inflammatory myopathies
66. Isr Med Assoc J. 2014 May;16(5):329-30.
A case of severe dermatomyositis in an African woman.
Ocampo C, Segwagwe ML, Deonarain J, Cainelli F, Vento S.
67. G Ital Dermatol Venereol. 2014 Jun 30. [Epub ahead of print]
Cancer risk in dermatomyositis: a systematic review of the literature.
1
Di Rollo D , Abeni D, Tracanna M, Capo A, Amerio P.
1
Department of Dermatology and Venereology, University of ChietiPescaraChieti,Italy - [email protected].
68. Neurology. 2014 Jun 27. pii: 10.1212/WNL.0000000000000642. [Epub ahead of print]
Evaluation and construction of diagnostic criteria for inclusion body myositis.
1
2
2
2
2
1
Lloyd TE , Mammen AL , Amato AA , Weiss MD , Needham M , Greenberg SA .
1
From the Departments of Neurology (T.E.L., A.L.M.), Neuroscience (T.E.L.), and Medicine (A.L.M.), Johns Hopkins
University School of Medicine and Johns Hopkins Bayview Myositis Center, Baltimore, MD; Department of Neurology
(A.A.A., S.A.G.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology
(M.D.W.), University of Washington, Seattle; Department of Neurology (M.N.), Australian Neuromuscular Research
Institute, University of Western Australia; and Children's Hospital Informatics Program (S.A.G.), Boston Children's
Hospital and Harvard-MIT Division of Health Sciences and Technology, Boston, MA. [email protected]
[email protected].
2
From the Departments of Neurology (T.E.L., A.L.M.), Neuroscience (T.E.L.), and Medicine (A.L.M.), Johns Hopkins
University School of Medicine and Johns Hopkins Bayview Myositis Center, Baltimore, MD; Department of Neurology
(A.A.A., S.A.G.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology
(M.D.W.), University of Washington, Seattle; Department of Neurology (M.N.), Australian Neuromuscular Research
Institute, University of Western Australia; and Children's Hospital Informatics Program (S.A.G.), Boston Children's
Hospital and Harvard-MIT Division of Health Sciences and Technology, Boston, MA.
69. Rheumatology (Oxford). 2014 Jun 26. pii: keu258. [Epub ahead of print]
Cytokine profiles in polymyositis and dermatomyositis complicated by rapidly progressive or chronic interstitial
lung disease.
1
1
2
1
1
1
1
1
1
1
Gono T , Kaneko H , Kawaguchi Y , Hanaoka M , Kataoka S , Kuwana M , Takagi K , Ichida H , Katsumata Y , Ota Y ,
1
1
Kawasumi H , Yamanaka H .
1
Institute of Rheumatology, Tokyo Women's Medical University and Division of Rheumatology, Department of Internal
Medicine, Keio University School of Medicine, Tokyo, Japan.
2
Medicine, Keio University School of Medicine, Tokyo, Japan. [email protected].
70. Clin Exp Immunol. 2014 Jun 26. doi: 10.1111/cei.12407. [Epub ahead of print]
MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant
macrophages.
1
Fujikawa K , Migita K, Shigemitsu Y, Umeda M, Nonaka F, Tamai M, Nakamura H, Mizokami A, Tsukada T, Origuchi T,
Yonemitsu N, Yasunami M, Kawakami A, Eguchi K.
13
1
Department of Rheumatology, Japan Community Health care Organization, Isahaya General Hospital, 24-1,
Eishohigashi-machi, Isahaya, Japan.
71. Joint Bone Spine. 2014 Jun 20. pii: S1297-319X(14)00091-8. doi: 10.1016/j.jbspin.2014.03.013. [Epub ahead of
print]
Usefulness of anti-SRP antibody testing in inflammatory myopathies.
1
2
2
2
Wendling D , Guillot X , Godfrin-Valnet M , Prati C .
1
Service de rhumatologie, CHRU de Besançon, université de Franche-Comté, Besançon, France. Electronic address:
[email protected].
2
Service de rhumatologie, CHRU de Besançon, université de Franche-Comté, Besançon, France.
LETTER
Correction: pre-treatment ferritin level and alveolar-arterial oxygen gradient can predict mortality rate due to
acute/subacufte interstitial pneumonia in dermatomyositis treated by cyclosporine a/glucocorticosteroid
combination therapy: a case control study.
PLOS ONE Staff.
[This corrects the article DOI: 10.1371/journal.pone.0089610.].
73. Orphanet J Rare Dis. 2014 Jun 19;9:88. doi: 10.1186/1750-1172-9-88.
Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.
1
Gang Q , Bettencourt C, Machado P, Hanna MG, Houlden H.
1
Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London
WC1N 3BG, UK. [email protected].
74. Rinsho Shinkeigaku. 2014;54(5):408-12.
A case of dermatomyositis with anti-CADM-140 antibody and alveolar hemorrhage.
1
Sato K , Morozumi S, Takeuchi Y, Ochiai J, Mabuchi C.
1
Department of Neurology, Nagoya Ekisaikai Hospital.
75. Drugs. 2014 Jun;74(9):981-98. doi: 10.1007/s40265-014-0240-6.
Innate immune-response mechanisms in dermatomyositis: an update on pathogenesis, diagnosis and
treatment.
1
Hornung T , Wenzel J.
1
Department of Dermatology, University of Bonn, Sigmund-Freud-Strasse 25, 53105, Bonn, Germany.
Myopathies métaboliques - Metabolic myopathies
76. Tex Heart Inst J. 2014 Jun 1;41(3):332-4. doi: 10.14503/THIJ-13-3279. eCollection 2014.
Asymptomatic young man with danon disease.
Kim J, Parikh P, Mahboob M, Arrighi JA, Atalay MK, Rowin EJ, Maron MS.
Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island
Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of
Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
77. J Inherit Metab Dis. 2014 Jul 15. [Epub ahead of print]
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
1
Moorthie S , Cameron L, Sagoo GS, Bonham JR, Burton H.
14
1
PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN, UK, [email protected].
78. J Inherit Metab Dis. 2014 Jun 27. [Epub ahead of print]
Expanded newborn screening in New South Wales: missed cases.
1
Estrella J , Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V.
1
Department of Medical Genetics Westmead Hospital, Sydney, Australia.
Syndromes myasthéniques congénitaux - Congenital myasthenic syndrome
79. Pediatr Neurol. 2014 Jul;51(1):165-9. doi: 10.1016/j.pediatrneurol.2014.03.012. Epub 2014 Mar 22.
Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing Congenital Myasthenic Syndrome
in a Syrian Family.
1
2
1
2
3
4
Matlik HN , Milhem RM , Saadeldin IY , Al-Jaibeji HS , Al-Gazali L , Ali BR .
1
Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
2
Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United
Arab Emirates.
3
Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United
Arab Emirates.
4
Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United
Arab Emirates. Electronic address: [email protected].
Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases)
Muscle atrophy reversed by growth factor activation of satellite cells in a mouse muscle atrophy model.
Hauerslev S, Vissing J, Krag TO.
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen,
Denmark.
81. Biomed Res Int. 2014;2014:818107. Epub 2014 May 19.
Influence of Immune Responses in Gene/Stem Cell Therapies for Muscular Dystrophies.
1
1
2
1
1
Farini A , Sitzia C , Erratico S , Meregalli M , Torrente Y .
1
Laboratorio Cellule Staminali, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di
Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Via F. Sforza 35, 20122
Milano, Italy.
2
Ystem s.r.l., Via Podgora 7, 20122 Milano, Italy.
82. Europace. 2014 Jun 17. pii: euu141. [Epub ahead of print]
Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular
dystrophy.
1
2
3
4
Stoyanov N , Winterfield J , Varma N , Gollob MH .
1
Arrhythmia Service, Division of Cardiology, University of Ottawa Heart Institute, Ottawa, ON, Canada K1Y 4W7.
2
Arrhythmia Service, Division of Cardiology, Loyola Center for Heart and Vascular Medicine, Park Ridge, 60153 IL, USA.
3
Arrhythmia Service, Division of Cardiology, Cleveland Clinic Foundation, 44106 Cleveland, OH, USA.
4
Arrhythmia Service, Division of Cardiology, University of Ottawa Heart Institute, Ottawa, ON, Canada K1Y 4W7
[email protected].
AIMS:
15
Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several
diseases)
83. Pediatr Int. 2014 Jun 30. doi: 10.1111/ped.12428. [Epub ahead of print]
EFFECTS OF MUSCLE WEAKNESS DISTRIBUTION ON BALANCE IN NEUROMUSCULAR DISEASES (TITLE).
1
Kaya P , Alemdaroğlu I, Yilmaz O, Karaduman A, Topaloğlu H.
1
Hacettepe University, Faculty of Health Sciences, Physiotherapy and Rehabilitation Department, Ankara, Turkey.
84. Respirology. 2014 Jun 30. doi: 10.1111/resp.12330. [Epub ahead of print]
Neuromuscular disease and respiratory physiology in children: Putting lung function into perspective.
1
Fauroux B , Khirani S.
1
Pediatric Noninvasive Ventilation and Sleep Unit, Necker University Hospital, Paris Descartes University, Paris, France.
85. Curr Drug Targets. 2014 Jun 26. [Epub ahead of print]
MicroRNA-133:Expression, Function and Therapeutic Potential in Muscle Diseases and Cancer.
1
Hao YU, Yinhui LU, Zhaofa LI, Wang Q .
1
Sol Sherry Thrombosis Research Center, School of Medicine, Temple University 3400 N Broad St, Philadelphia, PA,
19140, United States. [email protected].
86. Orthop Traumatol Surg Res. 2014 Jun 23. pii: S1877-0568(14)00117-0. doi: 10.1016/j.otsr.2014.05.002. [Epub
ahead of print]
The Targon PH® nail for distal femoral fracture fixation in disabled children. A report of three cases.
1
2
3
Biber R , Stedtfeld HW , Bail HJ .
1
Department of Trauma and Orthopaedic Surgery, Klinikum Nürnberg Sued, Breslauer Strasse 201, 90471 Nuernberg,
2
3
87. Acta Neurol Belg. 2014 Jun 24. [Epub ahead of print]
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular
Disease Registry (BNMDR).
1
Roy AJ , Van den Bergh P, Van Damme P, Doggen K, Van Casteren V; The BNMDR Scientific Committee.
1
Health Services Research Unit, Department of Public Health and Surveillance, Scientific Institute of Public Health,
Health Services Research, 14 rue Juliette Wytsman, 1150, Brussels, Belgium, [email protected].
88. Cell Metab. 2014 Jun 18. pii: S1550-4131(14)00220-4. doi: 10.1016/j.cmet.2014.05.012. [Epub ahead of print]
SDHAF4 Promotes Mitochondrial Succinate Dehydrogenase Activity and Prevents Neurodegeneration.
1
2
3
3
4
5
6
Van Vranken JG , Bricker DK , Dephoure N , Gygi SP , Cox JE , Thummel CS , Rutter J .
1
Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
2
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
3
Department of Cell Biology, Harvard University Medical School, Boston, MA 02115, USA.
4
Metabolomics Core Research Facility, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
5
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA. Electronic
6
Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA. Electronic address:
[email protected].
89. Pediatr Neurol. 2014 Apr 18. pii: S0887-8994(14)00255-0. doi: 10.1016/j.pediatrneurol.2014.04.013. [Epub
ahead of print]
Diagnostic Yield of Electromyography in Children With Myopathic Disorders.
1
2
Ghosh PS , Sorenson EJ .
1
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
2
Department of Neurology, Mayo Clinic, Rochester, Minnesota. Electronic address: [email protected].
16
90. Neuromuscul Disord. 2014 May 21. pii: S0960-8966(14)00131-X. doi: 10.1016/j.nmd.2014.05.005. [Epub ahead
of print]
Rhabdomyolysis: Review of the literature.
1
2
3
4
5
Zutt R , van der Kooi AJ , Linthorst GE , Wanders RJ , de Visser M .
1
Department of Neurology, Academic Medical Center, University of Amsterdam/University Medical Center Groningen,
The Netherlands.
2
Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands. Electronic address:
[email protected].
3
Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam,
The Netherlands.
4
Department of Paediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, The
Netherlands.
5
Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
91. Neurology. 2014 Jun 18. pii: 10.1212/WNL.0000000000000588. [Epub ahead of print]
Shared medical appointments improve QOL in neuromuscular patients: A randomized controlled trial.
1
2
2
2
2
Seesing FM , Drost G , Groenewoud J , van der Wilt GJ , van Engelen BG .
1
From the Department of Neurology (F.M.S., G.D., B.G.M.v.E.) and Department for Health Evidence (J.G., G.J.v.d.W.),
Radboud University Medical Centre, Nijmegen; and Departments of Neurology and Neurosurgery (G.D.), University
Medical Centre Groningen, University of Groningen, the Netherlands. [email protected].
2
From the Department of Neurology (F.M.S., G.D., B.G.M.v.E.) and Department for Health Evidence (J.G., G.J.v.d.W.),
Radboud University Medical Centre, Nijmegen; and Departments of Neurology and Neurosurgery (G.D.), University
Medical Centre Groningen, University of Groningen, the Netherlands.
OBJECTIVE:
92. Hum Mol Genet. 2014 Jun 18. pii: ddu310. [Epub ahead of print]
Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.
1
2
2
3
4
3
5
6
7
Chapman MA , Zhang J , Banerjee I , Guo LT , Zhang Z , Shelton GD , Ouyang K , Lieber RL , Chen J .
1
Department of Bioengineering and.
2
Department of Medicine.
3
Department of Pathology, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA.
4
Department of Cardiothoracic Surgery, The Second Xiangya Hospital of Central South University, No. 139 Renmin
Road, Changsha, Hunan 410011, P.R. China and.
5
Department of Medicine, School of Chemical Biology and Biotechnology, Peking University, Shenzhen 518055, P.R.
China.
6
Department of Bioengineering and Department of Orthopaedic Surgery, University of California San Diego, and
Department of Veteran's Affairs, 9500 Gilman Drive, La Jolla, CA 92093-0863, USA.
7
Department of Medicine, [email protected].
*
*
17
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
Europace. 2014 Jun 19. pii: euu146. [Epub ahead of print]
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial
function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy.
1
2
Russo V , Nigro G .
1
Chair of Cardiology, Second University of Naples-Monaldi Hospital, 80131 Piazzale Ettore Ruggeri, Naples, Italy
[email protected].
2
Chair of Cardiology, Second University of Naples-Monaldi Hospital, 80131 Piazzale Ettore Ruggeri, Naples, Italy.
LETTER
Europace. 2014 Jun 17. pii: euu141. [Epub ahead of print]
Atrial arrhythmias in the young: early onset atrial arrhythmias preceding a diagnosis of a primary muscular
dystrophy.
1
2
3
4
Stoyanov N , Winterfield J , Varma N , Gollob MH .
1
Arrhythmia Service, Division of Cardiology, University of Ottawa Heart Institute, Ottawa, ON, Canada K1Y 4W7.
2
Arrhythmia Service, Division of Cardiology, Loyola Center for Heart and Vascular Medicine, Park Ridge, 60153 IL, USA.
3
Arrhythmia Service, Division of Cardiology, Cleveland Clinic Foundation, 44106 Cleveland, OH, USA.
4
Arrhythmia Service, Division of Cardiology, University of Ottawa Heart Institute, Ottawa, ON, Canada K1Y 4W7
[email protected].
AIMS:
Proc Natl Acad Sci U S A. 2014 Jun 26. pii: 201402544. [Epub ahead of print]
Impaired functional communication between the L-type calcium channel and mitochondria contributes to
metabolic inhibition in the mdx heart.
1
2
3
4
3
5
Viola HM , Adams AM , Davies SM , Fletcher S , Filipovska A , Hool LC .
1
School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, WA 6009, Australia;
2
University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia;
3
Harry Perkins Institute for Medical Research, The University of Western Australia, Perth, WA 6000, Australia;
4
University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia;Centre for Comparative Genomics,
Murdoch University, Murdoch, WA 6150, Australia; and.
5
School of Anatomy, Physiology and Human Biology, The University of Western Australia, Crawley, WA 6009,
Australia;Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia [email protected].
Neuromuscul Disord. 2014 Jun 4. pii: S0960-8966(14)00148-5. doi: 10.1016/j.nmd.2014.05.010. [Epub ahead of print]
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial
cardiac variability and putative anticipation.
1
2
3
4
4
2
Finsterer J , Brandau O , Stöllberger C , Wallefeld W , Laing NG , Laccone F .
1
Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: [email protected].
2
Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.
3
2nd Medical Department with Cardiology and Intensive Care Medicine Krankenanstalt Rudolfstiftung, Vienna, Austria.
4
Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII
Medical Centre, Nedlands, Western Australia 6009, Australia.
Pneumologie - Pneumology
Rheumatology (Oxford). 2014 Jun 26. pii: keu258. [Epub ahead of print]
Cytokine profiles in polymyositis and dermatomyositis complicated by rapidly progressive or chronic interstitial
lung disease.
18
1
1
2
1
1
1
1
1
1
1
Gono T , Kaneko H , Kawaguchi Y , Hanaoka M , Kataoka S , Kuwana M , Takagi K , Ichida H , Katsumata Y , Ota Y ,
1
1
Kawasumi H , Yamanaka H .
1
Medicine, Keio University School of Medicine, Tokyo, Japan.
2
Medicine, Keio University School of Medicine, Tokyo, Japan. [email protected].
Respirology. 2014 Jun 30. doi: 10.1111/resp.12330. [Epub ahead of print]
Neuromuscular disease and respiratory physiology in children: Putting lung function into perspective.
1
Fauroux B , Khirani S.
1
Pediatric Noninvasive Ventilation and Sleep Unit, Necker University Hospital, Paris Descartes University, Paris, France.
19

Veille bibliographique sur les maladies

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