Results 141 to 150 of about 49,167 (262)

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Cell, 2001
Chunjie Zhao, J. Takita, Yosuke Tanaka, M. Setou, Terunaga Nakagawa, S. Takeda, Hongwei Yang, S. Terada, T. Nakata, Yosuke Takei, M. Saito, S. Tsuji, Yasuhide Hayashi, N. Hirokawa   +13 more
semanticscholar   +1 more source

Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study. [PDF]

Orphanet J Rare Dis
Pernice HF, May S, Mühlensiepen F, Spethmann S, Kneitz R, Mossakowski A, Hahn K.   +6 more
europepmc   +1 more source

Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants. [PDF]

J Neurol Neurosurg Psychiatry
Record CJ, Grider T, Rebelo AP, Laurini C, Skorupinska M, Danzi MC, Poh R, Tomaselli PJ, Frezatti RS, Dominik N, Grosz B, Ellis M, Kumar KR, Harms MB, Weihl CC, Marques Júnior W, Claeys KG, Blake JC, Holt JK, Weber A, Jacobson R, Dineen RT, Falzone YM, Previtali SC, Menezes MP, Vucic S, Laura M, Kennerson ML, Shy ME, Zuchner S, Reilly MM.   +30 more
europepmc   +1 more source

Replating Induces mTOR-Dependent Rescue of Protein Synthesis in Charcot-Marie-Tooth Diseased Neurons. [PDF]

eNeuro
Koenig J, McGuire A, Homedan Y, Alberhasky J, Summers DW.   +4 more
europepmc   +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

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F. [PDF]

Neurogenetics
Küpper H, Stühn LG, Grundmann-Hauser K, Grimm AM, Blankenburg M, Haack TB, Rosewich H.   +6 more
europepmc   +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

Perception of ankle foot orthoses by individuals with Charcot-Marie-Tooth disease. [PDF]

Prosthet Orthot Int
Anderson KM, Zuccarino R, Magdziarz SM, Shy ME, Wilken JM.   +4 more
europepmc   +1 more source

Co-Existing Charcot-Marie-Tooth Disease Type II and Parkinson's Disease Linked to a Novel DNAjB2 Pathogenic Variant. [PDF]

J Cent Nerv Syst Dis
Lerint AN, Canenguez Benitez JS, Valaparla VL, Shanina E, Wu LJ.   +4 more
europepmc   +1 more source

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

Journal of Clinical Investigation, 2017
Hien T. Zhao, S. Damle, Karli Ikeda-Lee, Steven G Kuntz, Jian J. Li, Apoorva Mohan, Aneeza S. Kim, G. Hung, M. Scheideler, S. Scherer, J. Svaren, E. Swayze, H. Kordasiewicz   +12 more
semanticscholar   +1 more source