Results 101 to 110 of about 30,318 (229)

Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project [PDF]

, 2020
Menelaos Pipis, Henry Houlden, Mary M. Reilly   +2 more
openalex   +1 more source

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

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 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

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

Fly model causes neurological rethink

eLife, 2013
A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.
Madhumala K Sadanandappa, Mani Ramaswami
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  

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
core  

Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]

, 2012
Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah, Jean, Steve, Kiger, Amy, Robinson, Fred L, Schmidt, Eric J   +4 more
core   +1 more source

Molecular Diagnosis of Charcot-Marie Tooth Disease

Pediatric Neurology Briefs, 2002
The frequency of mutations in certain genes in 153 unrelated patients with Charcot-Marie-Tooth disease (CMT) was determined by DNA sequencing before clinical testing at the Departments of Molecular and Human Genetics and Pediatrics, Baylor College of ...
J. Gordon Millichap
doaj   +1 more source