Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.
Lin, Chih-Chun; Gan, Shi-Rui; Gupta, Deepak; Alaedini, Armin; Green, Peter H; Kuo, Sheng-Han.
; 18(2): 291-294, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30229425
Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2).
Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
Spinocerebellar Ataxia Type 17 (SCA17).
[Advance in research on spinocerebellar ataxia 2].
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].