Results 141 to 150 of about 6,068 (173)
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2012
Spinocerebellar ataxia type 1 (SCA1) is one out of nine polyglutamine diseases, a group of late-onset neurodegenerative diseases present only in humans. SCA1, the first autosomal dominant cerebellar ataxia (ADCA) to be genetically characterized, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the disease ...
Stefano Di, Donato +2 more
openaire +2 more sources
Spinocerebellar ataxia type 1 (SCA1) is one out of nine polyglutamine diseases, a group of late-onset neurodegenerative diseases present only in humans. SCA1, the first autosomal dominant cerebellar ataxia (ADCA) to be genetically characterized, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the disease ...
Stefano Di, Donato +2 more
openaire +2 more sources
2012
The autosomal dominant spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative disorders characterized by progressive motor incoordination, in some cases with ataxia alone and in others in association with additional progressive neurological deficits.
Ana, Solodkin, Christopher M, Gomez
openaire +2 more sources
The autosomal dominant spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative disorders characterized by progressive motor incoordination, in some cases with ataxia alone and in others in association with additional progressive neurological deficits.
Ana, Solodkin, Christopher M, Gomez
openaire +2 more sources
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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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.
openaire +3 more sources
Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management
Parkinsonism and Related Disorders, 2021Norlinah Mohamed Ibrahim, Shahrul Azmin
exaly
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias
Neurochemistry International, 2016Mari Tada, Osamu Onodera
exaly
Polyglutamine spinocerebellar ataxias: emerging therapeutic targets
Expert Opinion on Therapeutic Targets, 2020Sara Duarte-Silva +2 more
exaly
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias
Cerebellum, 2016Raymond Y Lo +2 more
exaly