Novel dominantly inherited spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial and lysosomal dysregulation
Por:
Corral-Juan, M, Casquero, P, Restrepo, NG, Laurie, S, Martinez-Pineiro, A, Montero, RM, Ispierto, L, Volpini, V, Vilas, D, Alvarez-Ramo, R, Sanchez, I and Matilla-Duenas, A
Publicada:
1 dic 2020
Resumen:
Filiaciones:
:
Univ Autonoma Barcelona, Funct & Translat Neurogenet Unit, Dept Neurosci, Res Inst Germans Trias & Pujol IGTP, Can Ruti Campus, Badalona, Spain
Casquero, P:
Hosp Mateu Orfila, Neurol & Neurophysiol Sect, Mahon, Spain
Restrepo, NG:
Hosp Mateu Orfila, Neurol & Neurophysiol Sect, Mahon, Spain
Laurie, S:
Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain
:
Univ Autonoma Barcelona, Neuromuscular & Funct Studies Unit, Univ Hosp Germans Trias & Pujol HUGTiP, Neurol Serv, Can Ruti Campus, Badalona, Spain
Montero, RM:
Hosp Mateu Orfila, Neurol & Neurophysiol Sect, Mahon, Spain
Ispierto, L:
Univ Autonoma Barcelona, Univ Hosp Germans Trias & Pujol HUGTiP, Neurodegenerat Unit, Neurol Serv,Dept Neurosci, Can Ruti Campus, Badalona, Spain
Volpini, V:
IDIBELL, Lhospitalet De Llobregat, Spain
:
Univ Autonoma Barcelona, Univ Hosp Germans Trias & Pujol HUGTiP, Neurodegenerat Unit, Neurol Serv,Dept Neurosci, Can Ruti Campus, Badalona, Spain
:
Univ Autonoma Barcelona, Univ Hosp Germans Trias & Pujol HUGTiP, Neurodegenerat Unit, Neurol Serv,Dept Neurosci, Can Ruti Campus, Badalona, Spain
:
Univ Autonoma Barcelona, Funct & Translat Neurogenet Unit, Dept Neurosci, Res Inst Germans Trias & Pujol IGTP, Can Ruti Campus, Badalona, Spain
:
Univ Autonoma Barcelona, Funct & Translat Neurogenet Unit, Dept Neurosci, Res Inst Germans Trias & Pujol IGTP, Can Ruti Campus, Badalona, Spain
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