(Q83223769)

English

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

scientific article published on 28 April 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

cerebellar ataxia

1 reference

based on heuristic

inferred from title

spinocerebellar ataxia type 14

1 reference

based on heuristic

inferred from title

author name string

Andreas Dalski

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Beate Mitulla

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Katrin Bürk

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Christoph Schattenfroh

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Eberhard Schwinger

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Christine Zühlke

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

28 April 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Journal of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

253

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1111-1112

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16649092%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

https://scigraph.springernature.com/pub.10.1007/s00415-006-0209-9

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0209-9

21 January 2018

The clinical and genetic spectrum of spinocerebellar ataxia 14

1 reference

https://api.crossref.org/works/10.1007%2FS00415-006-0209-9

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16649092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/16649092

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/16649092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting

1 reference

https://pubmed.ncbi.nlm.nih.gov/16649092

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/16649092

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/16649092

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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