Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation (Q34389733)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330346%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation (English)

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8 December 2019

1

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8 December 2019

Giovanni Stevanin

2

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8 December 2019

Nicholas W. Wood

6

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8 December 2019

author name string

Worth PF

3

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8 December 2019

David G

4

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8 December 2019

Brice A

5

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8 December 2019

language of work or name

English

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publication date

1 June 1999

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American Journal of Human Genetics

8 December 2019

published in

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8 December 2019

volume

64

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8 December 2019

issue

6

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8 December 2019

page(s)

1594-1603

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De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

8 December 2019

cites work

1 reference

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The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

6 July 2018

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

6 July 2018

1 reference

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Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus.

6 July 2018

1 reference

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

6 July 2018

1 reference

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The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

Clinical features and classification of inherited ataxias.

6 July 2018

1 reference

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377902

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

6 July 2018

1 reference

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

6 July 2018

1 reference

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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'.

6 July 2018

1 reference

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Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

6 July 2018

1 reference

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Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

27 October 2018

1 reference

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Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families.

27 October 2018

1 reference

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Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

27 October 2018

1 reference

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Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability

9 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

1 reference

12 December 2020

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

1 reference

12 December 2020

Identifiers

DOI

10.1086/302406

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10330346%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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8 December 2019

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