The wide spectrum of spinocerebellar ataxias (SCAs) (Q28250912)

12 December 2020

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

1 reference

12 December 2020

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

1 reference

12 December 2020

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

1 reference

12 December 2020

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

1 reference

12 December 2020

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1 reference

12 December 2020

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

12 December 2020

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

1 reference

12 December 2020

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

1 reference

12 December 2020

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

12 December 2020

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

1 reference

12 December 2020

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription

1 reference

12 December 2020

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

1 reference

12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

12 December 2020

Hereditary ataxias and paraplegias in Valle ďAosta, Italy: a study of prevalence and disability

1 reference

12 December 2020

Pharmacological treatments of cerebellar ataxia

1 reference

12 December 2020

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

1 reference

12 December 2020

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

1 reference

12 December 2020

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

12 December 2020

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

1 reference

12 December 2020

Chronic thalamic stimulation in a patient with spinocerebellar ataxia type 2.

1 reference

12 December 2020

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

1 reference

12 December 2020

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

12 December 2020

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

1 reference

12 December 2020

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

1 reference

12 December 2020

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

1 reference

12 December 2020

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

1 reference

12 December 2020

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

1 reference

12 December 2020

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

1 reference

12 December 2020

Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.

1 reference

12 December 2020

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

1 reference

12 December 2020

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

1 reference

12 December 2020

Peripheral nerve involvement in spinocerebellar ataxias

1 reference

12 December 2020

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

1 reference

12 December 2020

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

1 reference

12 December 2020

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

12 December 2020

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

1 reference

12 December 2020

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

12 December 2020

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020