Results 111 to 120 of about 49,167 (262)

Diagnóstico diferencial entre “Enfermedad articular neuropática de Charcot y Enfermedad de Charcot Marie Tooth” [PDF]

, 2017
Treball Final de Grau de Podologia, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, curs: 2016-2017, Tutor: Carolina Padrós SánchezLa Neuroartropatia de Charcot y el Charcot Marie Tooth fueron descritas por Jean Marie Charcot en ...
Alberola Serna, Noemí
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Ancient Schwannoma of the Cauda Equina: our experience and review of the literature [PDF]

, 2016
Ancient schwannomas (AS) are exceedingly rare variant of common schwannomas (CS). Only two cases involving the cauda equina region have been previously reported in literature.
Caruso, Riccardo, Frati, Alessandro, Marrocco, Luigi, Pesce, Alessandro, Piccione, Emanuele, Wierzbicki, Venceslao   +5 more
core   +4 more sources

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain [PDF]

, 2016
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) cause severe peripheral motor and sensory neuropathies called Charcot-Marie-Tooth disease.
Berger, Imre, Bieniossek, Christoph, Elsässer, Hans-Peter, Huber, Nina, Niemann, Axel, Suter, Ueli, Wagner, Konstanze Marion   +6 more
core   +2 more sources

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

Frontiers in Neurology
This report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle
Gao-Hui Cao, Mei-Fang Zhao, Yi Dong, Liang-Liang Fan, Yi-Hui Liu, Yao Deng, Lu-Lu Tang   +6 more
doaj   +1 more source

Charcot-Marie-Tooth Disease Subtypes and Genetics

Pediatric Neurology Briefs, 2011
Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
doaj   +1 more source

Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders [PDF]

, 2023
BACKGROUND: Charcot–Marie–Tooth disease is the most common inherited peripheral neuropathy and many patients with Charcot–Marie–Tooth are women of childbearing age. Guidelines for managing pregnancy in Charcot–Marie–Tooth are lacking. AIMS: To assess the
Byrne, Bridgette, Laura, Matilde, Ramdharry, Gita, Reilly, Mary M, Skorupinska, Mariola   +4 more
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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

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families [PDF]

, 2010
Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, Michael B Russell, H Skre, PJ Dyck, AE Harding, G Nicholson, AE Harding, K Kijima, VH Lawson, K Verhoeven, A Santel, M Rojo, H Skre, H Skre, H Skre, PJ Dyck, S Rozen, JT den Dunnen, NK Aarskog, S Züchner, C Neusch, K Engelfried, I Banchs, D Zhu, KW Chung, S Züchner   +28 more
core   +1 more source

Manejo anestésico del paciente con enfermedad de Charcot- Marie-Tooth

Archivo Médico de Camagüey, 2015
Fundamento: la enfermedad de Charcot-Marie-Tooth es una neuropatía periférica hereditaria que resul-ta en atrofia muscular y pérdida de la propiocepción en las áreas afectadas.
Pedro Julio García Álvarez, Edel Cabreja Mola, Yarima Estrada Brizuela, Yosvany Sanchez Perez, Hugo Lavastida Fuentes   +4 more
doaj  

CHARCOT-MARIE-TOOTH DISEASE

Zdravniški Vestnik, 2003
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis, Janez Zidar, Borut Peterlin   +2 more
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