Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

Martinez-Rubio, D; Hinarejos, I; Sancho, P; Gorria-Redondo, N; Bernado-Fonz, R; Tello, C; Marco-Marin, C; Marti-Carrera, I; Martinez-Gonzalez, MJ; Garcia-Ribes, A; Baviera-Munoz, R; Sastre-Bataller, I; Martinez-Torres, I; Duat-Rodriguez, A; Janeiro, P; Moreno, E; Pias-Peleteiro, L; Gordo, MO; Ruiz-Gomez, A; Munoz, E; Marti, MJ; Sanchez-Monteagudo, A; Fuster, C; Andres-Borderia, A; Pons, RM; Jesus-Maestre, S; Mir, P; Lupo, V; Perez-Duenas, B; Darling, A; Aguilera-Albesa, S; Espinos, C

Espinos, C (通讯作者),Ctr Invest Principe Felipe CIPF, Rare Neurodegenerat Dis Lab, Valencia 46012, Spain.;Espinos, C (通讯作者),Joint Unit CIPF IIS La Fe Rare Dis, Valencia 46012, Spain.;Aguilera-Albesa, S (通讯作者),Hosp Univ Navarra, Dept Paediat, Paediat Neurol Unit, Navarrabiomed, Pamplona 31008, Spain.;Espinos, C (通讯作者),Univ Catolica Valencia San Vicente Martir, Fac Vet & Expt Sci, Dept Biotechnol, Valencia 46001, Spain.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022; 23 (19):

Abstract

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neu......

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