A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

(2010) Gyu-Hwan Park et al.   Current Neurology and Neuroscience Reports

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing

(2010) Ylva Mende et al.   HUMAN MOLECULAR GENETICS

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

(2010) Magali Michaud et al.   NEUROBIOLOGY OF DISEASE

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

Intron 7 conserved sequence elements regulate the splicing of the SMN genes

(2009) Jordan T. Gladman et al.   HUMAN GENETICS

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate

(2009) Lutz Garbes et al.   HUMAN MOLECULAR GENETICS

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

(2009) Eileen Workman et al.   HUMAN MOLECULAR GENETICS

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

(2008) Mohd Shamshudin Watihayati et al.   BRAIN & DEVELOPMENT

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Embryonic motor axon development in the severe SMA mouse

(2008) V. L. McGovern et al.   HUMAN MOLECULAR 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

Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors

(2008) A. M. Haidet et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA