Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
about
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaDominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaHereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese PopulationAdvances in genetic diagnosis of neurological disorders.Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.Genetics of movement disorders in the next-generation sequencing era.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingMassive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Mutations in TUBB4A and spastic paraplegia.
P2860
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P2860
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@ast
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@en
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@nl
type
label
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@ast
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@en
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@nl
prefLabel
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@ast
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@en
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@nl
P2093
P2860
P1433
P1476
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
@en
P2093
Anne Grünewald
Arndt Rolfs
Carolyn M Sue
Christina Liang
David M Sharpe
Himesha Vandebona
Kishore R Kumar
Nicholas F Blair
Uta Gölnitz
P2860
P2888
P304
P356
10.1007/S00415-013-7008-X
P577
2013-06-28T00:00:00Z
P5875
P6179
1007218477