Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology

(2014) Melissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Defining the therapeutic window in a severe animal model of spinal muscular atrophy

(2014) K. L. Robbins et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: Development and implementation of potential treatments

(2013) W. David Arnold et al.   ANNALS OF NEUROLOGY

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy

(2013) Paul N. Porensky et al.   HUMAN GENE THERAPY

SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy

(2013) John T. Kissel et al.   MUSCLE & NERVE

The motor neuron response toSMN1deficiency in spinal muscular atrophy

(2013) Peter B. Kang et al.   MUSCLE & NERVE

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Electrophysiological biomarkers in spinal muscular atrophy: proof of concept

(2013) W. David Arnold et al.   Annals of Clinical and Translational Neurology

A homozygous double mutation inSMN1: a complicated genetic diagnosis of SMA

(2013) Susan M. Kirwin et al.   Molecular Genetics & Genomic Medicine

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients

(2012) Albert Fujak et al.   ARCHIVES OF ORTHOPAEDIC AND TRAUMA SURGERY

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

(2012) Eileen Workman et al.   BRAIN RESEARCH

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

Sensorimotor polyneuropathy in patients with SMA type-1: Electroneuromyographic findings

(2012) Ozgur Duman et al.   MUSCLE & NERVE

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3

(2012) R. I. Wadman et al.   NEUROLOGY

Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I

(2012) Richard S. Finkel   NEUROMUSCULAR DISORDERS

A Practical Approach to Molecular Diagnostic Testing in Neuromuscular Diseases

(2012) W. David Arnold et al.   Physical Medicine and Rehabilitation Clinics of North America

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

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

Technical standards and guidelines for spinal muscular atrophy testing

(2011) Thomas W Prior et al.   GENETICS IN MEDICINE

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky et al.   HUMAN MOLECULAR GENETICS

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

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

(2011) Sara Bernal et al.   NEUROMUSCULAR DISORDERS

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy

(2011) John T. Kissel et al.   PLoS One

Newborn and carrier screening for spinal muscular atrophy

(2010) Thomas W. Prior et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan 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

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

(2010) S. Bernal et al.   JOURNAL OF MEDICAL GENETICS

Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

Compound muscle action potential and motor function in children with spinal muscular atrophy

(2010) Aga Lewelt et al.   MUSCLE & NERVE

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

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy

(2010) J. Montes et al.   NEUROLOGY

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

(2010) Kathryn J. Swoboda et al.   PLoS One

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

(2010) C. F. Valori et al.   Science Translational Medicine

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

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

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

Differences in SMN1 allele frequencies among ethnic groups within North America

(2009) B C Hendrickson et al.   JOURNAL OF MEDICAL GENETICS

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

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

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy

(2009) Bakri Elsheikh et al.   MUSCLE & NERVE

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

Special Considerations in the Respiratory Management of Spinal Muscular Atrophy: FIGURE 1

(2009) Mary K. Schroth   PEDIATRICS

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

(2009) Kathryn J. Swoboda et al.   PLoS One

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

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

A natural history study of late onset spinal muscular atrophy types 3b and 4

(2008) S. Piepers et al.   JOURNAL OF NEUROLOGY

The effect of hydroxyurea in spinal muscular atrophy cells and patients

(2008) Wen-Chen Liang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Regulation of SMN Protein Stability

(2008) B. G. Burnett et al.   MOLECULAR AND CELLULAR BIOLOGY

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

(2008) Satoshi Kuru et al.   NEUROPATHOLOGY

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

(2008) G. E. Oprea et al.   SCIENCE