Results 151 to 160 of about 26,653 (213)

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease. [PDF]

J Peripher Nerv Syst
Qaiser F, McHugh J, Mullins G, Farrell M, Shakerdi L, Byrne JO, Murphy SM.   +6 more
europepmc   +1 more source

Statistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease. [PDF]

Foot Ankle Int
Requist MR, Peterson AC, Beals TC, Chrea BL, Lenz AL.   +4 more
europepmc   +1 more source

Revision total knee arthroplasty with Charcot-Marie-Tooth disease - a case report. [PDF]

Int J Surg Case Rep
Mahlouly J, Wegrzyn J, Guyen O, Dietrich G, Meylan A, Antoniadis A.   +5 more
europepmc   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease. [PDF]

Ann Neurol
Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F.   +23 more
europepmc   +1 more source

An open-label single-arm phase 1/2a study to evaluate the safety and exploratory efficacy of a VM202 in patients with Charcot-Marie-Tooth disease 1A. [PDF]

Orphanet J Rare Dis
Kwon HM, Kim HS, Chi SA, Nam SH, Kim HJ, Kim SB, Choi BO.   +6 more
europepmc   +1 more source

Longitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease. [PDF]

Arq Neuropsiquiatr
Soares BA, Freitas CF, Cardoso J, Baptista CRJA, Marques W, Mattiello-Sverzut AC.   +5 more
europepmc   +1 more source

Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity. [PDF]

Neurosciences (Riyadh)
Alhazmi AS, Alhareeri AA, Alhawas AS, Jameel EW, Aleisa FS, Alqahtani MM, Almughni MJ, Almuqbil MA.   +7 more
europepmc   +1 more source

Physical Therapy Interventions for Gait and Balance in Charcot-Marie-Tooth Disease: A Scoping Review. [PDF]

Life (Basel)
Tedeschi R, Donati D, Giorgi F.
europepmc   +1 more source

Developing a gene therapy for Charcot-Marie-Tooth disease: progress and challenges. [PDF]

Regen Med
Stavrou M, Kagiava A, Sargiannidou I, Kleopa KA.   +3 more
europepmc   +1 more source