(Q81099322)

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Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families

scientific article published on 05 September 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Rehana Basri

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Ichiro Yabe

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hiroyuki Soma

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Hidenao Sasaki

4

1 reference

Europe PubMed Central

PubMed publication ID

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5 January 2020

publication date

5 September 2007

1 reference

Europe PubMed Central

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5 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

52

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

848-855

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

https://scigraph.springernature.com/pub.10.1007/s10038-007-0182-x

0 references

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and MRI findings in spinocerebellar ataxia type 5

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The hereditary spinocerebellar ataxias in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

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/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutamine repeats and neurodegeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features and classification of inherited ataxias.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathogenesis of spinocerebellar ataxias.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence of a common founder for SCA12 in the Indian population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein aggregation and neurodegenerative disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

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/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Japanese case of SCA14 with the Gly128Asp mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinocerebellar ataxia type 15.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17805477

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0182-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805477%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

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