(Q44492927)

3 December 2017

title

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

1 reference

3 December 2017

main subject

spinocerebellar ataxia

1 reference

3

1 reference

3 December 2017

7

R J McKinlay Gardner

1 reference

3 December 2017

8

Elsdon Storey

1 reference

3 December 2017

9

Susan M Forrest

1 reference

3 December 2017

Melanie A Knight

1

1 reference

3 December 2017

Marina L Kennerson

2

1 reference

3 December 2017

Tohru Matsuura

4

1 reference

3 December 2017

Garth A Nicholson

5

1 reference

3 December 2017

Peyman Salimi-Tari

6

1 reference

3 December 2017

publication date

1 July 2003

1 reference

3 December 2017

published in

Neurobiology of Disease

1 reference

3 December 2017

volume

13

1 reference

3 December 2017

issue

2

1 reference

3 December 2017

page(s)

147-157

1 reference

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

The isolation and characterization of the promoter of the human type 1 inositol 1,4,5-trisphosphate receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Connexin 26 gene linked to a dominant deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Inositol 1,4,5-triphosphate receptors and protein kinase C in olivopontocerebellar atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Cloning and characterization of the type I inositol 1,4,5-trisphosphate receptor gene promoter. Regulation by 17beta-estradiol in osteoblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Conservation of localization patterns of IP(3) receptor type 1 in cerebellar Purkinje cells across vertebrate species

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders?

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

The spinocerebellar ataxias: order emerges from chaos

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A CAG/CTG expansion in the normal population

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Direct detection of novel expanded trinucleotide repeats in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

A new autosomal dominant pure cerebellar ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Autosomal dominant spinocerebellar ataxias ad infinitum?

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

The gene for Machado-Joseph disease maps to human chromosome 14q

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Letter: Hereditary ataxia and HL-A genotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

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://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Calcium signaling molecules in human cerebellum at midgestation and in ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

1 reference

https://api.crossref.org/works/10.1016%2FS0969-9961%2803%2900029-9

7 January 2021

10.1016/S0969-9961(03)00029-9

Identifiers

DOI

1 reference

3 December 2017

1 reference