Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

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Modeling spinal muscular atrophy inDrosophilalinksSmnto FGF signaling

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Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

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The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

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TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy

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Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

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Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

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SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

(2010) Natalia N. Singh et al.   RNA Biology

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

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Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

(2010) Maria Dimitriadi et al.   PLoS Genetics

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

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SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

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Differences in SMN1 allele frequencies among ethnic groups within North America

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Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

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Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy

(2009) M. L. Hastings et al.   Science Translational Medicine

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene

(2008) H.-H. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Spinal muscular atrophy

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Modeling Spinal Muscular Atrophy in Drosophila

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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

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