Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
about
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisNext-generation sequencing in neuromuscular diseases.Emergencies in motoneuron disease.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
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Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
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2015年學術文章
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2015年學術文章
@zh-hant
name
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@ast
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@en
type
label
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@ast
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@en
prefLabel
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@ast
Hereditary spastic paraplegia ...... ng next-generation sequencing.
@en
P2093
P2860
P356
P1476
Hereditary spastic paraplegia ...... ing next-generation sequencing
@en
P2093
Arianna Tucci
Georgia Karadima
Georgios Koutsis
Henry Houlden
Marios Panas
Markella Baklou
P2860
P2888
P304
P356
10.1038/EJHG.2015.200
P577
2015-09-16T00:00:00Z