Results 211 to 220 of about 32,086 (242)

Spinocerebellar ataxia type 2

2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the ponto- medullar systems, pyramidal tracts, basal ...
openaire   +2 more sources

Other spinocerebellar ataxias

2012
Leslie J, Cloud, George, Wilmot
openaire   +2 more sources

Spinocerebellar ataxia type 7

2012
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. SCA7 represents one of the polyglutamine expansion diseases with increase of CAG repeats. The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18.
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A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

Nature Medicine, 2023
Suran Nethisinghe, , Valeria Ricotti
exaly  

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

Nature Reviews Molecular Cell Biology, 2008
Martin F Lavin
exaly  

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

Nature, 2017
Daniel R Scoles, Sharan Paul, Warunee Dansithong   +2 more
exaly  

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia

Nature Medicine, 2004
Qinwen Mao, Harry T Orr, Robert M Kotin
exaly  

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Nature Genetics, 2019
Andrea Cortese, Roberto Simone, Roisin Sullivan   +2 more
exaly  

Spinocerebellar ataxia

2023
openaire   +1 more source

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

Nature Reviews Neurology, 2016
Randi J Hagerman, Paul J Hagerman
exaly