Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
about
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaGenes and genetic testing in hereditary ataxias.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesExome sequencing in undiagnosed inherited and sporadic ataxiasExome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaEmerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasConcordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Prevalence of spinocerebellar ataxia 36 in a US population.LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.Cerebellar hypoplasia: differential diagnosis and diagnostic approach.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition.
P2860
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P2860
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@en
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@nl
type
label
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@en
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@nl
prefLabel
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@en
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@nl
P2093
P2860
P50
P356
P1433
P1476
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
@en
P2093
Amanda Smith
Chandree L Beaulieu
Christian R Marshall
David Dyment
Dennis E Bulman
FORGE Canada Consortium
Grace Yoon
Jacek Majewski
Lisa Murphy
Mark Tarnopolsky
P2860
P356
10.1002/HUMU.22451
P577
2014-01-01T00:00:00Z