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Auteur Pestronk A |
Documents disponibles écrits par cet auteur (69)



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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
Revue : BMJ Open, 10, 9 Titre : Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America Type de document : Article Auteurs : Green JD ; Barohn RJ ; Bartoccion E ; Benatar M ; Blackmore D ; Chaudhry V ; Chopra M ; Corse A ; Dimachkie MM ; Evoli A ; Florence J ; Freimer M ; Howard JF ; Jiwa T ; Kaminski HJ ; Kissel JT ; Koopman WJ ; Lipscomb B ; Maestri M ; Marino M ; Massey JM ; McVey A ; Mezei MM ; Muppidi S ; Nicolle MW ; Oger J ; Pascuzzi RM ; Pasnoor M ; Pestronk A ; Provenzano C ; Ricciardi R ; Richman DP ; Rowin J ; Sanders DB ; Siddiqi Z ; Soloway A ; Wolfe GI ; Wulf C ; Drachman DB ; Traynor BJ Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32948566 / DOI : 10.1136/bmjopen-2020-037909
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32948566 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of neuropathology and experimental neurology, 79, 1 Titre : Chronic Graft Versus Host Myopathies: Noninflammatory, Multi-Tissue Pathology With Glycosylation Disorders Type de document : Article Auteurs : Pestronk A Editeur : England Année de publication : 01/2020 Pages : p 102 Langues : Anglais (eng) Mots-clés : adulte ; dermatomyosite ; diagnostic différentiel ; étude rétrospective ; maladie immunitaire ; transplantation cellulaire Pubmed / DOI : Pubmed : 31803918 / DOI : 10.1093/jnen/nlz111
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31803918 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD, 29, 3 Titre : 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 Type de document : Article Auteurs : Pena LDM, Auteur ; Barohn RJ ; Byrne BJ ; Desnuelle C ; Goker-Alpan O ; Ladha S ; Laforêt P ; Mengel KE ; Pestronk A ; Pouget J ; Schoser B ; Straub V ; Trivedi J ; Van Damme P ; Vissing J ; Young P ; Kacena K ; Shafi R ; Thurberg BL ; Culm-Merdek K ; van der Ploeg AT Année de publication : 03/2019 Pages : p 167 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2018.12.004 / Pubmed : 30770310
N° Profil MNM : 2019022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30770310 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy
Findlay AR, Findlay AR, Harms MB, et al.
Neuromuscular disorders : NMD, 2018
Revue : Neuromuscular disorders : NMD Titre : Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy Type de document : Article Auteurs : Findlay AR, Auteur ; Findlay AR ; Harms MB ; Pestronk A ; Weihl CC Année de publication : 21/05/2018 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2018.05.006 / Pubmed : 29934118
N° Profil MNM : 2018071 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29934118 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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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
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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
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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
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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
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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
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Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
Sansone VA, Burge J, McDermott MP, et al.
Neurology, 2016, 86, 15, p 1408
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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
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The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
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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
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A Genome-wide Association Study of Myasthenia Gravis
Renton AE, Pliner HA, Provenzano C, et al.
JAMA Neurology, 2015, 72, 4, p 396
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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
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SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
Bucelli RC, Arhzaouy K, Pestronk A, et al.
Neurology, 2015, 85, 8, p 665
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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
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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
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Ultrasound of inherited vs. acquired demyelinating polyneuropathies
Zaidman CM, Harms MB, Pestronk A
Journal of neurology, 2013, 260, 12, p. 3115-3121
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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
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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
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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
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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
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