Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
about
Recent advances in amyotrophic lateral sclerosisLarge Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaNovel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegiaRapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingNovel SPG20 mutation in an extended family with Troyer syndrome.Rare Neurodegenerative Diseases: Clinical and Genetic Update.Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Three cases of Troyer syndrome in two families of Filipino descent.
P2860
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P2860
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
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-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
2014年學術文章
@zh-hant
name
Diagnosis, investigation and m ...... of next-generation sequencing.
@en
type
label
Diagnosis, investigation and m ...... of next-generation sequencing.
@en
prefLabel
Diagnosis, investigation and m ...... of next-generation sequencing.
@en
P2860
P1433
P1476
Diagnosis, investigation and m ...... of next-generation sequencing.
@en
P2093
Anke Hensiek
Stephen Kirker
P2860
P2888
P304
P356
10.1007/S00415-014-7598-Y
P50
P577
2014-12-06T00:00:00Z
P5875
P6179
1051353183