(Q35215614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 1

10 February 2020

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

M G Sweeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

H Jacobi

1 reference

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10 February 2020

P Bauer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

P Giunti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

R Labrum

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

P Charles

1 reference

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10 February 2020

A Dürr

1 reference

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10 February 2020

C Marelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

C Globas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

C Linnemann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

L Schöls

1 reference

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10 February 2020

R Rola

1 reference

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10 February 2020

E Zdzienicka

1 reference

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10 February 2020

T Schmitz-Hübsch

1 reference

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10 February 2020

R Fancellu

1 reference

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10 February 2020

C Mariotti

1 reference

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10 February 2020

C Tomasello

1 reference

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10 February 2020

L Baliko

1 reference

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10 February 2020

B Melegh

1 reference

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10 February 2020

A Filla

1 reference

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10 February 2020

C Rinaldi

1 reference

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10 February 2020

B P van de Warrenburg

1 reference

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10 February 2020

C C P Verstappen

1 reference

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10 February 2020

S Szymanski

1 reference

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10 February 2020

J Berciano

1 reference

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10 February 2020

J Infante

1 reference

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10 February 2020

D Timmann

1 reference

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10 February 2020

S Boesch

1 reference

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10 February 2020

S Hering

1 reference

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10 February 2020

C Depondt

1 reference

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10 February 2020

M Pandolfo

1 reference

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10 February 2020

J-S Kang

1 reference

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10 February 2020

S Ratzka

1 reference

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10 February 2020

J Schulz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

S Tezenas du Montcel

1 reference

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10 February 2020

T Klockgether

1 reference

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10 February 2020

language of work or name

English

0 references

publication date

10 August 2011

1 reference

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10 February 2020

1 reference

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10 February 2020

volume

1 reference

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10 February 2020

issue

1 reference

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10 February 2020

page(s)

1035-1041

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Trinucleotide Repeat Disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Scale for the assessment and rating of ataxia: development of a new clinical scale

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

The natural history of degenerative ataxia: a retrospective study in 466 patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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'.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Progression of ataxia in patients with Machado-Joseph disease.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Progression Rate of Neurological Deficits in a 10-Year Cohort of SCA3 Patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

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

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3174068

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

15 November 2018

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

1 reference

12 December 2020

The spinocerebellar ataxias

1 reference

12 December 2020

10.1212/WNL.0B013E31822E7CA0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

21832228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21832228%20AND%20SRC:MED&resulttype=core&format=json