Results 91 to 100 of about 30,474 (227)

Cavovarus deformity in Charcot-Marie-Tooth disease: is there a hindfoot equinus deformity that needs treatment? [PDF]

, 2015
Background: Charcot-Marie-Tooth disease (CMT), one of the most common hereditary neurologic disorders, often results in debilitating cavovarus foot deformities.
Beckmann, Nicholas A., Dreher, Thomas, Heitzmann, Daniel, Müller, Sebastian, Wallroth, Annika, Wolf, Sebastian I.   +5 more
core   +1 more source

A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease [PDF]

, 2022
Zeinab Jamiri, Rana khosravi, Mohammad Heidari, Ebrahim Kiani, Javad Gharechahi   +4 more
openalex   +1 more source

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

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  

Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]

, 2009
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E., FUZARO, Amanda C., HATA, Luciana, MARQUES JÚNIOR, Wilson, MENINGRONI, Paula C., NAKADA, Carolina S.   +5 more
core   +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  

The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease [PDF]

, 2017
People with Charcot Marie Tooth disease (CMT) have impairments of balance and may fall more frequently than those without the condition. This qualitative study aimed to explore the experiences of falling and poor balance through focus group interviews.
Marsden, Jonathan F, Ramdharry, Gita M, Reilly, Mary M, Thornhill, Anna   +3 more
core   +2 more sources

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
core   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source