Results 91 to 100 of about 30,318 (229)

X-Linked Charcot-Marie-Tooth Disease in 93 Patients

Pediatric Neurology Briefs, 2001
The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.
J Gordon Millichap
doaj   +1 more source

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases [PDF]

, 2014
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders.
Andressa Ferreira Lacerda, Andrzej Kochański, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Beata Sokołowska, Craig R. Brunetti, Dagmara Kabzińska, Elena Sinkiewicz-Darol, Irena Hausmanowa-Petrusewicz   +8 more
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ANESTHESIA AND DELIVERY IN PREGNANT PATIENTS WITH SYNDROMA CHARCOT-MARIE-TOOTH-HOFFMAN [PDF]

, 2010
Pacijenti sa Charcot-Marie-Tooth-Hoffman sindromom, posebno trudnice, zaslužuju veliku pozornost kada je riječ o anesteziji. Odabir anesteziološke medikacije i tehnike prije svega je uvjetovan nepredvidvim odgovorom bolesnika na primjenu anestetičnih ...
Dunja Anzulović, Marija Matas, Sandra Fudurić, Slobodan Mihaljević, Valentina Zulić   +4 more
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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]

, 2014
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C, Bundy, B, Burns, J, Day, J, Feely, S, Finkel, RS, Fridman, V, Grider, T, Herrmann, DN, Kirk, CA, Laurá, M, Li, J, Lloyd, T, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Piscosquito, G, Ramchandren, S, Reilly, MM, Scherer, SS, Shy, ME, Shy, R, Siskind, CE, Sumner, CJ, Yum, SW, Zuchner, S   +26 more
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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT [PDF]

, 2017
OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1).
Blake, JC, Carr, A, Horga, A, Houlden, H, Jaunmuktane, Z, Laura, M, Pareyson, D, Piscosquito, G, Poh, R, Polke, J, Reilly, MM, Rossor, AM, Saveri, P, Tomaselli, PJ   +13 more
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Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report [PDF]

, 2021
Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolísek, Peter Valkovič, Matěj Škorvánek, Rafał Płoski, Egon Kurča, Štefan Sivák   +10 more
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Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwot   +4 more
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Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
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Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking [PDF]

, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
AziziMalamiri, R, Bayram, N, Bibi, F, Cirak, S, Cooper, E, Efthymiou, S, Galehdari, H, Houlden, H, Jamshidi, Y, Kaçar Bayram, A, Mazaheri, N, Naghibzadeh, K, Nedic, I, Ozdemir, O, Per, H, Pergrande, M, Salpietro, V, Sami Güven, A, Shalbafan, B, Shariati, G, Sprute, R, Stumpfe, K, Sultan, T, Tajik, M, Wang, H, Yaşar, M, Zeighami, J   +26 more
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Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

Nature Communications, 2018
Charcot–Marie–Tooth disease 1A (CMT1A) is a peripheral demyelinating disease. Here, the authors demonstrate in a rodent model of CMT1A that Schwann cells have impairments in lipid biosynthesis, and that restoring lipids via diet can reverse the ...
R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda   +24 more
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