Results 91 to 100 of about 29,182 (218)

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
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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

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 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

The causes of Charcot-Marie-Tooth disease [PDF]

, 2018
Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The
Suter, U., Young, P.
core  

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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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  

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
core  

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease [PDF]

, 2016
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date.
Bhandari, T, Bray, P, Burns, J, Cornett, KM, Eichinger, KJ, Estilow, T, Finkel, RS, Foscan, M, Halaki, M, Herrmann, DN, Inherited Neuropathies Consortium, Laurá, M, Menezes, MP, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Reilly, MM, Shy, ME, Shy, RR, Sowden, J, Yum, SW   +21 more
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