(Q36078445)

12 August 2017

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases (English)

1 reference

spinocerebellar ataxia type 14

12 August 2017

1 reference

2

1 reference

12 August 2017

7

1 reference

12 August 2017

Nicholas W Wood

6

0 references

John Anthony Hardy

11

object named as

John Hardy

1 reference

12 August 2017

14

Andrew B Singleton

1 reference

12 August 2017

13

Bryan J Traynor

1 reference

12 August 2017

10

Dena Hernandez

1 reference

12 August 2017

4

Arianna Tucci

1 reference

12 August 2017

3

J Raphael Gibbs

1 reference

12 August 2017

Anna Sailer

1

1 reference

12 August 2017

Janel O Johnson

5

1 reference

12 August 2017

Holger Hummerich

8

1 reference

12 August 2017

Jinhui Ding

9

1 reference

12 August 2017

Howard J Federoff

12

1 reference

12 August 2017

Henry Houlden

15

1 reference

12 August 2017

language of work or name

English

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publication date

6 June 2012

1 reference

12 August 2017

1 reference

12 August 2017

79

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12 August 2017

2

1 reference

12 August 2017

127-131

1 reference

Comprehensive comparison of three commercial human whole-exome capture platforms

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

Performance comparison of exome DNA sequencing technologies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

Exome sequencing reveals VCP mutations as a cause of familial ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

Targeted capture and massively parallel sequencing of 12 human exomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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'.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3390538

10.1212/WNL.0B013E31825F048E

5 December 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

1 reference