(Q34646215)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia (English)

1 reference

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1 January 2020

5

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1 January 2020

author name string

Takeshi Amino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kinya Ishikawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Shuta Toru

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Taro Ishiguro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Taiji Tsunemi

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Miho Murata

7

1 reference

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1 January 2020

Kazuhiro Kobayashi

8

1 reference

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1 January 2020

Johji Inazawa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Tatsushi Toda

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17611710%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Hidehiro Mizusawa

11

1 reference

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1 January 2020

publication date

5 July 2007

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Journal of Human Genetics

1 January 2020

published in

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1 January 2020

volume

52

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1 January 2020

issue

8

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1 January 2020

page(s)

643-649

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

1 January 2020

cites work

1 reference

12 December 2020

The hereditary spinocerebellar ataxias in Japan

1 reference

12 December 2020

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.

1 reference

12 December 2020

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

12 December 2020

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

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

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

12 December 2020

Protein aggregation and neurodegenerative disease

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

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

1 reference

12 December 2020

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

12 December 2020

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

1 reference

12 December 2020