Results 191 to 200 of about 9,852,555 (389)

Progression of motor axon dysfunction and ectopic Nav1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B

, 2016
Mette Romer Rosberg, Susana Alvarez, Dennis Klein, Finn Cilius Nielsen, Rudolf Martini, S. Rock Levinson, Christian Krarup, Mihai Moldovan   +7 more
openalex   +2 more sources

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing [PDF]

, 2014
Helle Høyer, Geir J. Braathen, Øyvind L. Busk, Øystein L. Holla, Marit Svendsen, Hilde Tveitan Hilmarsen, Linda M. Strand, Camilla Furu Skjelbred, Michael Bjørn Russell   +8 more
openalex   +1 more source

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Brain : a journal of neurology, 2018
A. Rebelo, Dimah Saade, C. Pereira, A. Farooq, Tyler C. Huff, Lisa Abreu, C. Moraes, Diana Mnatsakanova, K. Mathews, Hua Yang, E. Schon, S. Zuchner, M. Shy   +12 more
semanticscholar   +1 more source

Children’s Oral Health Assessment, Prevention, and Treatment [PDF]

, 2015
Gonzalez, Cesar, Hodgson, Brian D., Okunseri, Christopher   +2 more
core   +2 more sources

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution. [PDF]

Neurol Genet
Alawneh I, Alemán A, Nigro E, Bouchard M, Gonorazky HD.   +4 more
europepmc   +1 more source

Decision letter for "Novel <i>SBF1</i> splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"

, 2018

openalex   +1 more source

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

Neuroepidemiology, 2016
Lidiane Carine Lima Santos Barreto, Fernanda Santos Oliveira, P. Nunes, Iandra Maria Pinheiro de França Costa, C. A. Garcez, G. Goes, E. Neves, Jullyana de Souza Siqueira Quintans, A. A. de Souza Araújo   +8 more
semanticscholar   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

White Matter Microstructural Correlates of Auditory Brainstem Responses in Patients With Charcot-Marie-Tooth Disease. [PDF]

Brain Behav
Wang P, An Z, Huang Y, Qi W, Han X, Xia Y, Chen Z, Yang Z, Zhao P, Liu Y.   +9 more
europepmc   +1 more source