(Q42617887)

3 November 2017

title

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

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3 November 2017

2

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3 November 2017

6

Mitali Mukerji

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3 November 2017

Mohammed Faruq

1

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3 November 2017

Inder Singh

series ordinal

3

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3 November 2017

Shivani Tyagi

series ordinal

4

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3 November 2017

Achal K Srivastava

series ordinal

5

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3 November 2017

publication date

1 July 2009

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3 November 2017

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3 November 2017

volume

30

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3 November 2017

issue

7

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3 November 2017

page(s)

1037-1042

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Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

3 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

Evidence of a common founder for SCA12 in the Indian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

7 January 2021

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Trinucleotide repeats: mechanisms and pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Trinucleotide repeats and neurodegenerative disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

7 January 2021

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Genetic landscape of the people of India: a canvas for disease gene exploration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Nineteen CAG repeats of the SCA6 gene in a Japanese patient presenting with ataxia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

7 January 2021

Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Definition of the smallest pathological CAG expansion in SCA7

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Spinocerebellar ataxia with sensory neuropathy (SCA25)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

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/10.1002%2FHUMU.21006

7 January 2021

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Spinocerebellar Ataxias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21006

7 January 2021

Identifiers

DOI

10.1002/HUMU.21006

1 reference

3 November 2017

1 reference