Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients (Q77312901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

H Sasaki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

A Wakisaka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

K Sanpei

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

H Takano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

S Igarashi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

T Ikeuchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

K Iwabuchi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

T Fukazawa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

T Hamada

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

T Yuasa

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

S Tsuji

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

K Tashiro

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

4 December 2019

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

159

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

page(s)

202-208

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus

4 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Unique features of the CAG repeats in Machado-Joseph disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Homozygous inheritance of the Machado-Joseph disease gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Anticipation in spinocerebellar ataxia type 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Machado-Joseph disease: an autosomal dominant motor system degeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

Homozygotes for Huntington's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900166-X

10.1016/S0022-510X(98)00166-X

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9741408%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference