Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias (Q47139419)

http://europepmc.org/abstract/PMC/5706750

9 January 2018

title

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias (English)

1 reference

http://europepmc.org/abstract/PMC/5706750

9 January 2018

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Cheng-Tsung Hsiao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Yo-Tsen Liu

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Ting-Yi Hsu

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Bing-Wen Soong

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

29 November 2017

1 reference

http://europepmc.org/abstract/PMC/5706750

9 January 2018

published in

PLOS One

1 reference

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11 June 2020

volume

1 reference

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11 June 2020

issue

1 reference

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11 June 2020

page(s)

e0187503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

start time

29 November 2017

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

23 May 2018

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Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

23 May 2018

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

23 May 2018

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23 May 2018

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23 May 2018

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A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

23 May 2018

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Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

15 August 2018

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15 August 2018

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15 August 2018

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15 August 2018

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Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

15 August 2018

1 reference

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Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

15 August 2018

1 reference

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Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706750

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706750

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706750

Immunohistochemical localization of an inositol 1,4,5-trisphosphate receptor, P400, in neural tissue: studies in developing and adult mouse brain

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5706750

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29186133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29186133

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0187503

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

29186133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29186133%20AND%20SRC:MED&resulttype=core&format=json