相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
Anna Noelle et al.
HUMAN MOLECULAR GENETICS (2011)
A Leaky Splicing Mutation Affecting SMN1 Exon 7 Inclusion Explains an Unexpected Mild Case of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2011)
Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Experience From a Clinical Laboratory in China
Jian Zeng et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
Sara Bernal et al.
NEUROMUSCULAR DISORDERS (2011)
Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females
George Stratigopoulos et al.
ARCHIVES OF NEUROLOGY (2010)
Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis
Chun-Chi Wang et al.
ELECTROPHORESIS (2010)
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
Francesco Danilo Tiziano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
Zhu Sheng-Yuan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2010)
False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy
Seong-Ho Kang et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2009)
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Laura Alias et al.
HUMAN GENETICS (2009)
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
Lars Brichta et al.
HUMAN GENETICS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Spinal muscular atrophy diagnostics
Thomas W. Prior
JOURNAL OF CHILD NEUROLOGY (2007)
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins
Tomohiro Kotani et al.
JOURNAL OF NEUROLOGY (2007)
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
Eva Zapletalova et al.
NEUROMUSCULAR DISORDERS (2007)
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
L Cartegni et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
Y Sun et al.
HUMAN MUTATION (2005)
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
NN Singh et al.
RNA (2004)
New insights on the evolution of the SMN1 and SMN2 region:: simulation and meta-analysis for allele and haplotype frequency calculations
S Ogino et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
O Clermont et al.
HUMAN MUTATION (2004)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
A genetic and phenotypic analysis iin Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
I Cuscó et al.
HUMAN MUTATION (2003)
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations
Y Martin et al.
HUMAN GENETICS (2002)
Characterization of functional domains of the SMN protein in vivo
J Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families
CH Tsai et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2001)
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
LA Skordis et al.
HUMAN GENETICS (2001)
Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
Y Hofmann et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)
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