Détail de l'auteur
Documents disponibles écrits par cet auteur (69)
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America
Green JD, Barohn RJ, Bartoccion E, et al.
BMJ Open, 2020, 10, 9
Chronic Graft Versus Host Myopathies: Noninflammatory, Multi-Tissue Pathology With Glycosylation Disorders
Pestronk A
Journal of neuropathology and experimental neurology, 2020, 79, 1, p 102
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Pena LDM, Barohn RJ, Byrne BJ, et al.
Neuromuscular disorders : NMD, 2019, 29, 3, p 167
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy
Findlay AR, Findlay AR, Harms MB, et al.
Neuromuscular disorders : NMD, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Diaz-Manera J, Fernández-Torrón R, Llauger J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Moore UR, Jacobs M, Fernández-Torrón R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 11, p 1224
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
Argov Z, Bronstein F, Esposito A, et al.
Journal of clinical neuromuscular disease, 2017, 19, 1, p 19
Cystinosis distal myopathy, novel clinical, pathological and genetic features
Cabrera-Serrano M, Junckerstorff RC, Alisheri A, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 873
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study
Argov Z, Caraco Y, Lau H, et al.
Journal of Neuromuscular Diseases, 2016, 3, 1, p 49
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
van der Ploeg A, Carlier PG, Carlier RY, et al.
Molecular genetics and metabolism, 2016, 119, 1-2, p 115
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
Sansone VA, Burge J, McDermott MP, et al.
Neurology, 2016, 86, 15, p 1408
Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy
Griggs RC, Miller JP, Greenberg CR, et al.
Neurology, 2016, 87, 20, p 2123
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs
Albulym OM, Kennerson ML, Harms MB, et al.
Annals of neurology, 2015, 79, 3, p 419
A Genome-wide Association Study of Myasthenia Gravis
Renton AE, Pliner HA, Provenzano C, et al.
JAMA Neurology, 2015, 72, 4, p 396
Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement
Goyal NA, Cash TM, Alam U, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 87, 4, p 373
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
Bucelli RC, Arhzaouy K, Pestronk A, et al.
Neurology, 2015, 85, 8, p 665
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
Weihl CC, Baloh RH, Lee Y, et al.
Neuromuscular disorders : NMD, 2015, 25, 4, p 289
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy
Flanigan KM, Ceco E, Lamar KM, et al.
Annals of neurology, 2013, 73, 4, p. 481-488
Ultrasound of inherited vs. acquired demyelinating polyneuropathies
Zaidman CM, Harms MB, Pestronk A
Journal of neurology, 2013, 260, 12, p. 3115-3121
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
Harms MB, Sommerville RB, Allred P, et al.
Annals of neurology, 2012, 71, 3, p. 407-416
Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa
van der Ploeg AT, Barohn R, Carlson L, et al.
Molecular genetics and metabolism, 2012, 107, 3, p 456
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Harms MB, Ori-McKenney KM, Scoto M, et al.
Neurology, 2012, 78, 22, p. 1714-1720
CINRG pilot trial of coenzyme Q10 in steroid-treated Duchenne muscular dystrophy
Spurney CF, Rocha CT, Henricson E, et al.
Muscle & Nerve, 2011, 44, 2, p. 174-178
