Results 141 to 150 of about 30,474 (227)

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

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease) [PDF]

, 1974
H. Warner Kloepfer, James M. Killian
openalex   +1 more source

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta [PDF]

Marjo K. Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja S. Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi   +11 more
openalex   +3 more sources

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

Charcot-Marie-Tooth Disease [PDF]

, 2019
National Institute of Neurological Disorders and Stroke (NINDS)
openalex   +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

Review for "Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats"

, 2020
Katherine Halievski
openalex   +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

A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

, 2014
Alejandro Leal, Corinna Berghoff, Martin Berghoff, Melissa Rojas-Araya, Carolina Ortíz, Dieter Heuß, Gerardo Del Valle, Bernd Rautenstrauß   +7 more
openalex   +1 more source

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease. [PDF]

J Peripher Nerv Syst
Maino A, Hazane-Puch F, Petiot P, Roux-Buisson N, Rendu J, Fauré J, Hardy G.   +6 more
europepmc   +1 more source