Related references
Note: Only part of the references are listed.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)
Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
PLOS ONE (2009)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Valproic acid treatment in six patients with spinal muscular atrophy
L. -K. Tsai et al.
EUROPEAN JOURNAL OF NEUROLOGY (2007)
Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy
Robert E. Pyatt et al.
CLINICAL CHEMISTRY (2007)
Spinal muscular atrophy genetic counseling access and genetic knowledge: Parents' perspectives
Candice Meldrum et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Modern management of spinal muscular atrophy
Susan T. Iannaccone
JOURNAL OF CHILD NEUROLOGY (2007)
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
Chien-Hao Huang et al.
GENETICS IN MEDICINE (2007)
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy
Conrad C. Weihl et al.
NEUROLOGY (2006)
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
Lars Brichta et al.
ANNALS OF NEUROLOGY (2006)
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
SM Grzeschik et al.
ANNALS OF NEUROLOGY (2005)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (2005)
Quantitative analysis of SMN1 and SMN2 genes based on DHPLCC:: A highly efficient and reliable carrier screening test
YN Su et al.
HUMAN MUTATION (2005)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
C Brahe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Neonatal screening by DNA microarray: spots and chips
NS Green et al.
NATURE REVIEWS GENETICS (2005)
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)
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
LA Skordis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Correction of disease-associated exon skipping by synthetic exon-specific activators
L Cartegni et al.
NATURE STRUCTURAL BIOLOGY (2003)
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
S Ogino et al.
HUMAN GENETICS (2002)
Genetic risk assessment in carrier testing for spinal muscular atrophy
S Ogino et al.
AMERICAN JOURNAL OF MEDICAL 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)
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)
Treatment of spinal muscular atrophy by sodium butyrate
JG Chang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome
MD Mailman et al.
HUMAN GENETICS (2001)
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)