Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIIIFrequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsPrecision medicine in spinocerebellar ataxias: treatment based on common mechanisms of diseaseCell biology of spinocerebellar ataxiaIntegration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxiaCA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitStore-independent modulation of Ca(2+) entry through Orai by Septin 7.A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Analysis of phosphatidylinositol-4,5-bisphosphate signaling in cerebellar Purkinje spinesIntracellular Ca2+ signaling and store-operated Ca2+ entry are required in Drosophila neurons for flightEffect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1Spontaneous Ca2+ Influx in Drosophila Pupal Neurons Is Modulated by IP3-Receptor Function and Influences Maturation of the Flight Circuit.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2The enigma of store-operated ca-entry in neurons: answers from the Drosophila flight circuit.Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia seriesDynamic changes in murine forebrain miR-211 expression associate with cholinergic imbalances and epileptiform activity.Inositol trisphosphate receptor Ca2+ release channels in neurological diseases.Towards a complete resolution of the genetic architecture of disease.Functional complementation of Drosophila itpr mutants by rat Itpr1.Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia.Genes and genetic testing in hereditary ataxias.Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaIntegration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxiasAntibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia.Computational neurobiology is a useful tool in translational neurology: the example of ataxiaA 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.Inositol 1,4,5-trisphosphate receptor 1 mutation perturbs glucose homeostasis and enhances susceptibility to diet-induced diabetes.SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.Investigating perturbed pathway modules from gene expression data via structural equation models.Virtual NEURON: a strategy for merged biochemical and electrophysiological modeling.A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type IDeranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxiasInositol trisphosphate receptors in smooth muscle cells.De novo point mutations in patients diagnosed with ataxic cerebral palsy.
P2860
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P2860
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
description
2007 nî lūn-bûn
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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2007 թվականի հունիսին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
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2007年论文
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name
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@ast
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en-gb
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@nl
type
label
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@ast
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en-gb
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@nl
altLabel
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
@en
prefLabel
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@ast
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en-gb
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@nl
P2093
P2860
P50
P921
P3181
P1433
P1476
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
@en
P2093
Dena Hernandez
Hon-Chung Fung
Ian Rafferty
James T Russell
Javier Simon-Sanchez
Jayanth Chandran
Joyce van de Leemput
Lynne A Holtzclaw
Melanie A Knight
Nick W Wood
P2860
P3181
P356
10.1371/JOURNAL.PGEN.0030108
P407
P50
P577
2007-06-01T00:00:00Z