(Q54544840)

English

Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis".

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis". (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

author name string

Jiang X Lin

1

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Kinya Ishikawa

2

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Masaki Sakamoto

3

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Taiji Tsunemi

4

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Taro Ishiguro

5

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Takeshi Amino

6

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Shuta Toru

7

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Ikuko Kondo

8

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Hidehiro Mizusawa

9

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

publication date

27 February 2008

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

53

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

4

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

287-295

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

https://scigraph.springernature.com/pub.10.1007/s10038-007-0242-2

0 references

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population variation analysis at nine loci containing expressed trinucleotide repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18301861

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0242-2

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 May 2018

http://europepmc.org/abstract/MED/18301861

ResearchGate publication ID

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