Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders

(2011) Chiara Bersanini et al.   EUROPEAN RESPIRATORY JOURNAL

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

(2011) Smita Saxena et al.   NEURON

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

(2011) Natalia N. Singh et al.   RNA Biology

Mice deficient in Mkp-1 develop more severe pulmonary hypertension and greater lung protein levels of arginase in response to chronic hypoxia

(2010) Yi Jin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

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

Splicing regulation of the Survival Motor Neuron genes and implications for treatment of spinal muscular atrophy

(2010) Thomas et al.   Frontiers in Bioscience-Landmark

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

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

(2010) Jordan T. Gladman et al.   HUMAN MOLECULAR GENETICS

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

(2010) Francine M. Jodelka et al.   HUMAN MOLECULAR GENETICS

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

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

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

(2010) Magali Michaud et al.   NEUROBIOLOGY OF DISEASE

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of RNP biogenesis in spinal muscular atrophy

(2009) Ashwin Chari et al.   CURRENT OPINION IN CELL BIOLOGY

Emerging treatment options for spinal muscular atrophy

(2009) Barrington G. Burnett et al.   Current Treatment Options in Neurology

Sam68 relocalization into stress granules in response to oxidative stress through complexing with TIA-1

(2009) Jorge Henao-Mejia et al.   EXPERIMENTAL CELL RESEARCH

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

(2009) Hong Liu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

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

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

(2008) Lars Brichta et al.   HUMAN GENETICS