Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
about
'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 VIIIA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy PhenotypesMissense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.A 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.Spinocerebellar ataxia 15: A phenotypic review and expansion.Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.Climbing Fiber Development Is Impaired in Postnatal Car8 (wdl) Mice.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.Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.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.Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
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P2860
Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
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2011年學術文章
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name
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@en
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@nl
type
label
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@en
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@nl
prefLabel
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@en
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@nl
P2093
P50
P356
P1476
Spinocerebellar ataxia type 15 ...... ency, and phenotypic features.
@en
P2093
Claudia Bauer
Elena Sanchez-Ferrero
Michael Bonin
Peter Bauer
Thomas Nägele
P304
P356
10.1136/JMG.2010.087023
P407
P577
2011-03-01T00:00:00Z