Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
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'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 VIIIIntegration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxiaA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaGenes and genetic testing in hereditary ataxias.Application of next-generation sequencing technologies in Neurology.Antibodies 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 ataxiaGWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican AmericansDe novo point mutations in patients diagnosed with ataxic cerebral palsy.Integrated analysis of genetic, behavioral, and biochemical data implicates neural stem cell-induced changes in immunity, neurotransmission and mitochondrial function in Dementia with Lewy Body mice.Defining the stoichiometry of inositol 1,4,5-trisphosphate binding required to initiate Ca2+ release.A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Recent advances in the genetic etiology of brain malformations.The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.Cardiac inositol 1,4,5-trisphosphate receptors.The genetic basis of cerebral palsy.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.IP3 receptor mutations and brain diseases in human and rodents.Calcium signaling, PKC gamma, IP3R1 and CAR8 link spinocerebellar ataxias and Purkinje cell dendritic development.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Ion channel dysfunction in cerebellar ataxia.Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.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.CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.
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P2860
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@ast
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@en
type
label
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@ast
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@en
prefLabel
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@ast
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@en
P2093
P2860
P50
P356
P1476
Missense mutations in ITPR1 ca ...... essive spinocerebellar ataxia.
@en
P2093
Dennis E Bulman
Kathie L Friend
Lijia Huang
Melissa T Carter
Peter W Schofield
Ruobing Zou
Stuart Douglas
Tracy E Dudding
P2860
P2888
P356
10.1186/1750-1172-7-67
P577
2012-09-17T00:00:00Z
P5875
P6179
1018737879