Results 181 to 190 of about 30,367 (239)

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

Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

, 2002
Natasa Zamurovic, Vedrana Milic, Jelena Dačković, D. Zamurović, Biljana Čuljković, Sanja Pavlović, Slobodan Apostolski, Stanka Romac   +7 more
openalex   +2 more sources

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

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

Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A [PDF]

Pedro José Tomaselli, Julian Blake, James M. Polke, Osvaldo J. M. Nascimento, Mary M. Reilly, Wilson Marques, Matilde Laurá   +6 more
openalex   +1 more source

Combined Posterior Tibial Tendon Transfer and Forefoot Reconstruction for Foot Drop and Forefoot Pain Secondary to Charcot-Marie-Tooth Disease: A Case Report and Literature Review. [PDF]

Cureus
Moss MH, Garcia AM.
europepmc   +1 more source

Novel <i>GNB4</i> Gene Variant and the Spectrum of <i>GNB4</i> Variants in Patients With Charcot-Marie-Tooth Disease. [PDF]

Neurol Genet
Pretkalnina D, Jurcenko M, Rozevska M, Gailite L, Kauke G, Zarina A, Kenina V, Rots D.   +7 more
europepmc   +1 more source

Charcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report. [PDF]

Cureus
Battula P, Raza H.
europepmc   +1 more source

Ferroptosis and Charcot-Marie-Tooth Disease 1A: Emerging Evidence for a Pathogenic Association. [PDF]

Antioxidants (Basel)
White JB, Sanchez KL, Currais A, Soriano-Castell D, Maher P, Soriano S.   +5 more
europepmc   +1 more source

Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter. [PDF]

Am J Case Rep
Zhu J, Dai S, Li Y, Ma M, Chu M, Lin Z, Sun L, Zhou JC.   +7 more
europepmc   +1 more source