(Q33665814)

28 July 2017

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond (English)

1 reference

28 July 2017

1

Alexandra Durr

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28 July 2017

1 September 2010

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28 July 2017

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28 July 2017

9

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28 July 2017

9

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28 July 2017

885-894

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An approach to the patient with late-onset cerebellar ataxia

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Sporadic ataxia with adult onset: classification and diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Classification of the hereditary ataxias and paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

CAG repeat disorder models and human neuropathology: similarities and differences

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Polyglutamine neurodegeneration: protein misfolding revisited.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia type 6 in Brazil

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Prevalence of spinocerebellar degenerations in the Hokuriku district in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical and genetic aspects of spinocerebellar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical and molecular features of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Repeat instability: mechanisms of dynamic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia type 8: clinical features in a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

RNA gain-of-function in spinocerebellar ataxia type 8.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Do CTG expansions at the SCA8 locus cause ataxia?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Genetic instabilities of (CCTG).(CAGG) and (ATTCT).(AGAAT) disease-associated repeats reveal multiple pathways for repeat deletion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Pathways to motor incoordination: the inherited ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

"SCA16" is really SCA15.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Cognitive deficits in spinocerebellar ataxia 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Molecular pathogenesis of spinocerebellar ataxia type 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Distinct molecular mechanisms and divergent endocytotic pathways of AMPA receptor internalization

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2810%2970183-6

7 January 2021

10.1016/S1474-4422(10)70183-6

Identifiers

DOI

1 reference

release_jwucb5drgzf7hlfaqznukdipl4

28 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jwucb5drgzf7hlfaqznukdipl4

24 November 2022

mapped directly with Wikidata item

PubMed ID

20723845

1 reference

PubMed ID

20723845