(Q21092490)

GOA release 2020-03-11

17

Elsdon Storey

Elsdon

Storey

1 reference

15 August 2022

7

Henry Houlden

Henry

Houlden

1 reference

15 August 2022

14

Paola Giunti

Paola

Giunti

1 reference

15 August 2022

5

Sonja Scholz

Sonja

Scholz

1 reference

15 August 2022

8

Katrina Gwinn-Hardy

Katrina

Gwinn-Hardy

1 reference

15 August 2022

Huaibin Cai

22

Huaibin

Cai

1 reference

15 August 2022

16

John Hardy

John

Hardy

1 reference

15 August 2022

6

Mark R Cookson

Mark R

Cookson

1 reference

15 August 2022

23

Andrew B Singleton

Andrew B

Singleton

1 reference

15 August 2022

Elizabeth M. C. Fisher

20

Elizabeth M C Fisher

Elizabeth M C

Fisher

1 reference

15 August 2022

11

Dena Hernandez

Dena

Hernandez

1 reference

15 August 2022

18

R J McKinlay

Gardner

R J McKinlay Gardner

1 reference

15 August 2022

19

Susan M

Forrest

Susan M Forrest

1 reference

15 August 2022

1

Joyce van de Leemput

Joyce

van de Leemput

1 reference

15 August 2022

Jayanth Chandran

2

Jayanth

Chandran

1 reference

15 August 2022

Melanie A Knight

3

Melanie A

Knight

1 reference

15 August 2022

Lynne A Holtzclaw

4

Lynne A

Holtzclaw

1 reference

15 August 2022

Hon-Chung Fung

9

Hon-Chung

Fung

1 reference

15 August 2022

Xian Lin

10

Xian

Lin

1 reference

15 August 2022

Javier Simon-Sanchez

12

Javier

Simon-Sanchez

1 reference

15 August 2022

Nick W Wood

13

Nick W

Wood

1 reference

15 August 2022

Ian Rafferty

15

Ian

Rafferty

1 reference

15 August 2022

James T Russell

21

James T

Creative Commons CC0 License

Russell

1 reference

15 August 2022

language of work or name

English

0 references

publication date

June 2007

0 references

published in

PLOS Genetics

0 references

volume

3

0 references

page(s)

e108

0 references

issue

6

0 references

copyright license

start time

22 June 2007

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Discovery genetics: serendipity in basic research

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Type 1 inositol 1,4,5-trisphosphate receptor knock-out mice: their phenotypes and their meaning in neuroscience and clinical practice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Astrocytes in adult rat brain express type 2 inositol 1,4,5-trisphosphate receptors.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

A new autosomal dominant pure cerebellar ataxia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1892049

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17590087

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.0030108

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1268625

Fatcat ID

release_m55jt6xk7zgjvizq4i6jx4f7sm

0 references

OpenCitations bibliographic resource ID

1268625

1 reference