Results 121 to 130 of about 49,167 (262)

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy [PDF]

, 2019
Distal hereditary motor neuropathies are a rare subgroup of inherited peripheral neuropathies hallmarked by a length-dependent axonal degeneration of lower motor neurons without significant involvement of sensory neurons.
Asselbergh, B, Baets, J, Beijer, D, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Dotti, MT, López de Munain, A, Malandrini, A, Urtizberea, JA, Zulaica, M   +10 more
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Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells [PDF]

, 2017
Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health and disease.
Baumann, Reto, Horn, Michael, Lühmann, Tessa, Pereira, Jorge A., Relvas, João B., Senderek, Jan, Sidiropoulos, Páris N. M., Somandin, Christian, Stendel, Claudia, Suter, Ueli, Toyka, Klaus V., Welzl, Hans, Wessig, Carsten   +12 more
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Síndrome da medula ancorada mimetizando doença de Charcot-Marie-Tooth no disrafismo oculto da coluna [PDF]

, 2014
Universidade Federal de São Paulo (UNIFESP) Department of NeurologyUNIFESP, Department of ...
Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle, Pedroso, José Luiz, Pinto, Wladimir Bocca Vieira de Rezende, Souza, Paulo Victor Sgobbi de   +4 more
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Hand Involvement in Charcot-Marie-Tooth Disease 1A

Pediatric Neurology Briefs, 2008
Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj   +1 more source

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Brain : a journal of neurology, 2019
Charcot-Marie-Tooth type 4C is a demyelinating neuropathy caused by mutations of SH3TC2. Schiza et al. report that intrathecal injection of a lentiviral vector for targeted SH3TC2 delivery into Schwann cells leads to functional and morphological ...
Natasa Schiza, E. Georgiou, A. Kagiava, Jean‐Jacques Médard, J. Richter, C. Tryfonos, I. Sargiannidou, A. Heslegrave, A. Rossor, H. Zetterberg, M. Reilly, C. Christodoulou, R. Chrast, K. Kleopa   +13 more
semanticscholar   +1 more source

The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]

, 2017
Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte, Feltri, M. Laura, Halfter, Hartmut, Horn, Michael, Huber, Nina, Lebrun-Julien, Frédéric, Niemann, Axel, Pereira, Jorge A., Somandin, Christian, Suter, Ueli, Toyka, Klaus V., Wagner, Konstanze M., Welzl, Hans, Wessig, Carsten, Wrabetz, Lawrence, Young, Peter   +15 more
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Първи случай на рядка форма на автозомно-доминантна аксонна наследствена моторна и сетивна полиневропатия, обусловена от мутация c.754C>T, p.Arg252Trp в MORC2 гена с късно начало (НМСН тип 2Z).

Българска неврология
Болестта на Charcot-Marie-Tooth (CMT), известна също като наследствена моторна и сетивна невропатия (НМСН) е група от наследствени моторни и сензорни периферни невропатии и най-често срещаното наследствено невромускулно заболяване.
Ognyan Asenov, Teodora Chamova, Albena Jordanova, Ivaelo Tournev   +3 more
doaj   +1 more source

GDAP1-related autosomal dominant Charcot-Marie-Tooth disease : phenotypical and MRI features [PDF]

, 2012
El present estudi es basa en la descripció de quatre famílies portadores d'una mateixa mutació puntual (p.R120W) en el gen GDAP1 que segreguen d'una manera autosòmica dominant.
Sevilla Mantecón, Maria Teresa, Sivera Mascaró, Rafael, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina, Álvarez Sabin, Jose   +4 more
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Charcot‐Marie‐Tooth disease in children

Annals of the Child Neurology Society
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan   +4 more
doaj   +1 more source

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]

, 2018
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp, Niemann, Axel, Suter, Ueli   +2 more
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