(Q45294379)

11 December 2017

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

1 reference

11 December 2017

Włodzimierz Krzyżosiak

series ordinal

2

object named as

Wlodzimierz J Krzyzosiak

1 reference

11 December 2017

1

Krzysztof Sobczak

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11 December 2017

1 September 2004

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11 December 2017

1 reference

11 December 2017

24

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11 December 2017

3

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11 December 2017

236-247

1 reference

Clinical and molecular features of spinocerebellar ataxia type 6

11 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Fourteen and counting: unraveling trinucleotide repeat diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Spinocerebellar ataxia type 1 in Russia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Population variation analysis at nine loci containing expressed trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

The hereditary ataxias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Dominantly inherited, non-coding microsatellite expansion disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Dynamic mutation: possible mechanisms and significance in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Neurodegenerative diseases. Origins of instability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

7 January 2021

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20075

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.20075

7 January 2021

Identifiers

DOI

10.1002/HUMU.20075

1 reference

11 December 2017

1 reference

PubMed ID

15300851