(Q36535853)

14 August 2017

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia (English)

1 reference

14 August 2017

0 references

Jeremy Schwartzentruber

6

object named as

Jeremy Schwartzentruber

0 references

Jodi Warman Chardon

object named as

Jodi Warman Chardon

2

0 references

Kym M Boycott

11

object named as

Kym M Boycott

1 reference

14 August 2017

Lijia Huang

1

1 reference

14 August 2017

Melissa T Carter

3

1 reference

14 August 2017

Kathie L Friend

4

1 reference

14 August 2017

Tracy E Dudding

5

1 reference

14 August 2017

Ruobing Zou

7

1 reference

14 August 2017

Peter W Schofield

8

1 reference

14 August 2017

Stuart Douglas

9

1 reference

14 August 2017

Dennis E Bulman

10

1 reference

14 August 2017

17 September 2012

1 reference

Orphanet Journal of Rare Diseases

14 August 2017

1 reference

14 August 2017

7

1 reference

14 August 2017

67

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-67

14 August 2017

0 references

cites work

Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Inositol trisphosphate receptor Ca2+ release channels in neurological diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Inositol trisphosphate receptor Ca2+ release channels.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Classification of the hereditary ataxias and paraplegias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Infantile cerebellar atrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Dominantly inherited hypoplasia of the vermis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Cerebellar ataxia with progressive improvement.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

Primary position vertical nystagmus and cerebellar ataxia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545966

An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22986007

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22986007

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-7-67

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference