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Retricted access

Brief report

First published 2003-12

Survival Motor Neuron ( SMN ) Genes for Molecular Allele-Specific Amplification of Exon 7 in the Diagnosis of Spinal Muscular Atrophy

Mehmet Simsek, Talal Al-Bulushi, Muralitharan Shanmugakonar [...]

Genetic Testing and Molecular Biomarkers

Free access

Research article

First published 2017

Analysis of Azithromycin Monohydrate as a Single or a Combinatorial Therapy in a Mouse Model of Severe Spinal Muscular Atrophy

Erkan Y. Osman, Charles W. Washington, Madeline E. Simon [...]

Journal of Neuromuscular Diseases

Open access

Article commentary

First published 2024

Synergistic Effect of an Antisense Oligonucleotide and Small Molecule on Splicing Correction of the Spinal Muscular Atrophy Gene

Eric W Ottesen, Ravindra N Singh

Neuroscience Insights

Open access

Review article

First published 2016

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

Saif Ahmad, Kanchan Bhatia, Annapoorna Kannan [...]

Neuroscience Insights

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Research article

First published 2014-07

Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy

Marco A. Passini, Jie Bu, Amy M. Richards [...]

Human Gene Therapy

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Other

First published 2007-08

Animal Models of Spinal Muscular Atrophy

Aloicia Schmid, Christine J. DiDonato

Journal of Child Neurology

Free access

Research article

First published 2016-11-29

Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy

Jonathan D. Edwards, Matthew E. R. Butchbach

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024-11

Peripheral defects precede neuromuscular pathology in the Smn 2B/− mouse model of spinal muscular atrophy

Aoife Reilly, Ariane Beauvais, Majd Al-Aarg [...]

Journal of Neuromuscular Diseases

Free access

Review article

First published 2010-05

Therapeutic developments in spinal muscular atrophy

Douglas M. Sproule, Petra Kaufmann

Therapeutic Advances in Neurological Disorders

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Other

First published 2007-08

Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling

Srinivasan Shanmugarajan, Kathryn J. Swoboda, Susan T. Iannaccone [...]

Journal of Child Neurology

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