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注意：仅列出部分参考文献，下载原文获取全部文献信息。Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
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CLINICAL GENETICS (2009)
Survival in SMA type I: A prospective analysis of 34 consecutive cases
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NEUROMUSCULAR DISORDERS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
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SCIENCE (2008)
The changing natural history of spinal muscular atrophy type 1
M. Oskoui et al.
NEUROLOGY (2007)
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
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EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Consensus statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang et al.
JOURNAL OF CHILD NEUROLOGY (2007)
The Hammersmith functional score correlates with the SMN2 copy number:: A multicentric study
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NEUROMUSCULAR DISORDERS (2007)
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
B Wirth et al.
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SMN mRNA and protein levels in peripheral blood - Biomarkers for SMA clinical trials
CJ Sumner et al.
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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
I Cusco et al.
JOURNAL OF NEUROLOGY (2006)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
Evidence for a modifying pathway in SMA discordant families:: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1
C Helmken et al.
HUMAN GENETICS (2003)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
MD Mailman et al.
GENETICS IN MEDICINE (2002)
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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