Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
about
Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenanceHereditary spastic paraplegia SPG4: what is known and not known about the disease.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyClinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot StudyFunctional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegiaA cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsMutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP).Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindredLoss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystoniaQuantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegiaEvaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.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.Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.SPAST mutations in Australian patients with hereditary spastic paraplegia.Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay.Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
P2860
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P2860
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
description
2004 nî lūn-bûn
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2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@en
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@nl
type
label
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@en
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@nl
prefLabel
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@en
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@nl
P2093
P1433
P1476
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
@en
P2093
Douglas A Marchuk
Ingrid K Svenson
James Y Garbern
Margaret A Pericak-Vance
Mark T Kloos
Martha A Nance
P Craig Gaskell
Shin-ichi Hisanaga
P2888
P304
P356
10.1007/S10048-004-0186-Z
P577
2004-07-10T00:00:00Z