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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。ACOG Committee Opinion No. 432: Spinal Muscular Atrophy
OBSTETRICS AND GYNECOLOGY (2014)
Perspectives and diagnostic considerations in spinal muscular atrophy
Thomas W. Prior
GENETICS IN MEDICINE (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
Differences in SMN1 allele frequencies among ethnic groups within North America
B. C. Hendrickson et al.
JOURNAL OF MEDICAL GENETICS (2009)
Carrier screening for spinal muscular atrophy
Thomas W. Prior
GENETICS IN MEDICINE (2008)
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches
Thomas Eggermann et al.
NEUROMUSCULAR DISORDERS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Spinal muscular atrophy genetic counseling access and genetic knowledge: Parents' perspectives
Candice Meldrum et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Population screening and cascade testing for carriers of SMA
Melanie Smith et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
Chien-Hao Huang et al.
GENETICS IN MEDICINE (2007)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (2005)
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)
Why do cells need an assembly machine for RNA-protein complexes?
JS Yong et al.
TRENDS IN CELL BIOLOGY (2004)
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
W Rossoll et al.
JOURNAL OF CELL BIOLOGY (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
Determination of SMN1 and SMN2 copy number using TaqMan™ technology
D Anhuf et al.
HUMAN MUTATION (2003)
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
S Ogino et al.
HUMAN GENETICS (2002)
The SMN complex, an assemblyosome of ribonucleoproteins
S Paushkin et al.
CURRENT OPINION IN CELL BIOLOGY (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
MD Mailman et al.
GENETICS IN MEDICINE (2002)
Animal models of spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
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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