(Q35869416)

10 August 2017

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis (English)

1 reference

10 August 2017

0 references

spinocerebellar ataxia

1 reference

Michael O Dorschner

1

1 reference

10 August 2017

Deborah Barden

series ordinal

2

1 reference

10 August 2017

Karen Stephens

series ordinal

3

1 reference

10 August 2017

1 May 2002

1 reference

The Journal of Molecular Diagnostics

10 August 2017

1 reference

10 August 2017

4

1 reference

10 August 2017

2

1 reference

10 August 2017

108-113

1 reference

Genetic testing in spinocerebellar ataxias: defining a clinical role

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

The molecular biology of the autosomal-dominant cerebellar ataxias

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Applications of capillary electrophoresis in DNA mutation analysis of genetic disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Improved single-strand DNA sizing accuracy in capillary electrophoresis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1906987

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11986402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A simplified procedure for developing multiplex PCRs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11986402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11986402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S1525-1578(10)60689-7

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

11986402

1 reference