Nusinersen for the treatment of spinal muscular atrophy

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

(2017) Enrico Bertini et al.   LANCET NEUROLOGY

Revised upper limb module for spinal muscular atrophy: Development of a new module

(2017) Elena S. Mazzone et al.   MUSCLE & NERVE

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Six-minute walk test is reliable and valid in spinal muscular atrophy

(2016) Sally Dunaway Young et al.   MUSCLE & NERVE

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Splice-switching antisense oligonucleotides as therapeutic drugs

(2016) Mallory A. Havens et al.   NUCLEIC ACIDS RESEARCH

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

(2016) Stephen J. Kolb et al.   Annals of Clinical and Translational Neurology

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA

(2015) Vicki L. McGovern et al.   HUMAN MOLECULAR GENETICS

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

Observational study of spinal muscular atrophy type I and implications for clinical trials

(2014) R. S. Finkel et al.   NEUROLOGY

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

(2012) Alan J Russell et al.   NATURE MEDICINE

Prospective cohort study of spinal muscular atrophy types 2 and 3

(2012) P. Kaufmann et al.   NEUROLOGY

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

(2012) Thomas O. Crawford et al.   PLoS One

Observational Study of Spinal Muscular Atrophy Type 2 and 3

(2011) Petra Kaufmann   ARCHIVES OF NEUROLOGY

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III

(2011) Allan M. Glanzman et al.   JOURNAL OF CHILD NEUROLOGY

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

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

(2011) M. A. Passini et al.   Science Translational Medicine

Validation of the Childrenʼs Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

(2011) Allan M. Glanzman et al.   Pediatric Physical Therapy

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

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

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS 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