Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
about
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaPure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.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.
P2860
Q28115409-B810DA4B-CCA6-4359-A258-42AC782B1B28Q37592782-9604A6AB-5EDF-4F63-9C57-35199F069EE9Q39112358-00FFD1FD-15F5-40D3-87C9-2701AC3F5F88Q42376536-D3FA2B46-8AC6-4330-B8EF-5CDCF0D3AFB6Q48367273-7D7F0B3D-B522-4AFE-9759-79FAD6EF21D4Q49174285-85EE82DE-1BED-4D88-A062-0C413AF80D3BQ51034720-D4CF7465-DBDE-4A4E-9E3A-CB5F3A7E3B06Q51767155-C2267FF3-5A28-4635-AE57-A57168E303FF
P2860
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Genetic landscape remodelling ...... of next-generation sequencing.
@en
type
label
Genetic landscape remodelling ...... of next-generation sequencing.
@en
prefLabel
Genetic landscape remodelling ...... of next-generation sequencing.
@en
P2860
P50
P1433
P1476
Genetic landscape remodelling ...... of next-generation sequencing.
@en
P2860
P2888
P304
P356
10.1007/S00415-015-7725-4
P577
2015-04-11T00:00:00Z
P6179
1048586806