Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

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http://www.wikidata.org/entity/Q48270136
The Increasing Importance of Gene-Based AnalysesA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Cardiac inositol 1,4,5-trisphosphate receptors.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.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Endoplasmic Reticulum Malfunction in the Nervous System.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.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.
P2860

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Item
http://www.wikidata.org/entity/Q48270136
description
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Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@en
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@nl
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label
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@en
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@nl
prefLabel
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@en
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Sporadic infantile-onset spino ...... hosphate receptor type 1 gene.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921