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physiologie du système nerveuxSynonyme(s)neurophysiologie ;neurophysiology ;physiologie nerveuse nervous system physiologyVoir aussi |
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Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A
Zanette G, Tamburin S, Taioli F, et al.
Muscle & Nerve, 2019, 60, 6, p 744
Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder.
Duchesne M, Danigo A, Richard L, et al.
Journal of neuropathology and experimental neurology, 2018, Epub, 8 p.
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.
Damle S, Ikeda-Lee K, Kuntz S, et al.
The Journal of clinical investigation, 2018, 128, 1, p. 359-368
Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging
Bonanni E, Carnicelli L, Crapanzano D, et al.
Neuromuscular disorders : NMD, 2018, 28, 5, p 414
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease
de Franca Costa IMP, Nunes PS, de Aquino Neves EL, et al.
Gait & posture, 2018, 62, p 463
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
Fabrizi GM, Tamburin S, Cavallaro T, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2018, 129, 1, p. 21-32
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3
Kanhangad M, Cornett K, Brewer MH, et al.
Neurology, 2018, 90, 19
Human ESC-derived retinal epithelial cell sheets potentiate rescue of photoreceptor cell loss in rats with retinal degeneration.
Ben M'Barek K, Habeler W, Plancheron A, et al.
Science translational medicine, 2017, 9, 421, 12 p.
AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials.
Hardcastle N, Boulis NM, Federici T
Expert Opin Biol Ther., 2017, 15, 15, 14 p.
Noninvasive Positive Pressure Ventilatory Support Begins During Sleep.
Bach JR
Sleep medicine clinics, 2017, p. 607-615
Challenges and Advances in Gene Therapy Approaches for Neurodegenerative Disorders.
Donde A, Wong PC, Chen LL
Current gene therapy, 2017, Epub, 7 p.
Où l'étude électrophysiologique est d'un grand apport dans la démarche diagnostique
Lacour A, Bouche P
Lettre du neurologue Nerf et Muscle (La), 2017, 21, 7, p. 202-206
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
Russell S, Bennett J, Wellman JA, et al.
Lancet (London, England), 2017, 390, 10097, p. 849-860
Natural history of Charcot-Marie-Tooth disease during childhood.
Cornett KM, Menezes MP, Shy RR, et al.
Annals of neurology, 2017, 82, 3, p. 353-359
Clinical Neurophysiology in Neuromuscular Disorders: Old Fashioned or Still Relevant?
Muller-Felber W, Vill K
Neuropediatrics, 2017, 48,4, p. 221-225
Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease.
Shy M, Rebelo AP, Feely SM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, Epub, 4 p.
Sleep in infants with congenital myasthenic syndromes.
Caggiano S, Khirani S, Verrillo E, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017, Epub, 10 p.
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Jacquier A, Delorme C, Belotti E, et al.
Acta neuropathologica communications, 2017, 5, 1, p. 55
Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment.
Robin V, Griffith G, Carter JL, et al.
Molecular therapy. Nucleic acids, 2017, 7, p. 81-89
L'IFB-088, un traitement potentiel de la maladie de Charcot-Marie-Tooth : La recherche : thérapeutiques
Dupuy-Maury F
VLM. Vaincre les myopathies, 2017, 181, p.16-17
Effects of 1-month withdrawal of ventilatory support in hypercapnic myotonic dystrophy type 1.
O'Donoghue FJ, Borel JC, Dauvilliers Y, et al.
Respirology (Carlton, Vic.), 2017, Epub, 7 p.
Modèlisation in vitro de la barrière hémato-encéphalique : [Modelling of the blood-brain barrier].
Gosselet F
médecine/sciences, 2017, 33, 4, p. 423-431
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, et al.
Neurology, 2017, Epub, 9 p.
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al.
European journal of neurology, 2017, 24, 3, p. 530-538
Maladies neuromusculaires : des solutions pour bien dormir
Schanen-Bergot MO
Repères, Savoir & Comprendre, 2017, 12 p.
