(Q48403072)

English

A Japanese case of SCA14 with the Gly128Asp mutation

scientific article published on 22 September 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

A Japanese case of SCA14 with the Gly128Asp mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

spinocerebellar ataxia type 14

1 reference

based on heuristic

inferred from title

author name string

Hiroshi Morita

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

Kunihiro Yoshida

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

Kayo Suzuki

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

Shu-ichi Ikeda

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

publication date

22 September 2006

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

51

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

12

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

1118-1121

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

The clinical and genetic spectrum of spinocerebellar ataxia 14

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0063-8

21 January 2018

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/17024314

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/17024314

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/17024314

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/17024314

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/17024314

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/17024314

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/17024314

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/17024314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17024314

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/17024314

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/17024314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-006-0063-8

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/17024314

ResearchGate publication ID

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