Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
about
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutationTranscriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysisTruncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil.Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genesOrigin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
P2860
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P2860
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@ast
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@en
type
label
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@ast
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@en
prefLabel
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@ast
Mutational spectrum of the SPG ...... hereditary spastic paraplegia.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutational spectrum of the SPG ...... hereditary spastic paraplegia
@en
P2093
Ana I Corao
Belén Alonso
Carmen Benito
Celedonio Márquez
Elena Sánchez-Ferrero
Eliecer Coto
Emilia Del Castillo
Group for the Study of the Genetics of Spastic Paraplegia
Jesús Esteban
Jordi Rosell
P2860
P2888
P356
10.1186/1471-2377-10-89
P577
2010-10-08T00:00:00Z
P5875
P6179
1004925723