(Q80853100)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15480876%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families (English)

1 reference

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4 January 2020

1 reference

Yusaku Shimizu

1

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4 January 2020

Kunihiro Yoshida

2

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4 January 2020

Tomomi Okano

3

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4 January 2020

Shinji Ohara

4

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4 January 2020

Takao Hashimoto

5

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4 January 2020

Yoshimitsu Fukushima

6

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4 January 2020

Shu-Ichi Ikeda

7

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4 January 2020

publication date

8 October 2004

1 reference

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Journal of Human Genetics

4 January 2020

published in

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4 January 2020

volume

49

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4 January 2020

issue

11

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4 January 2020

page(s)

610-616

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0196-6

4 January 2020

exact match

0 references

cites work

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

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12 December 2020

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

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

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

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12 December 2020

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

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12 December 2020

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

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12 December 2020

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

1 reference

12 December 2020

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

1 reference

12 December 2020

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

12 December 2020

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

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12 December 2020

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

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12 December 2020

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

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12 December 2020

The hereditary spinocerebellar ataxias in Japan

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12 December 2020

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1. Clinical and genetic studies of a Japanese family

1 reference

12 December 2020

Clinical features and classification of inherited ataxias.

1 reference

12 December 2020

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and molecular features of spinocerebellar ataxia type 6

1 reference

12 December 2020

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

1 reference

12 December 2020

A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan

1 reference

12 December 2020

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients

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12 December 2020

A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

1 reference

12 December 2020

10.1007/S10038-004-0196-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15480876%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference