A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

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

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy

(2016) Reiko Arakawa et al.   PEDIATRIC NEUROLOGY

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials

(2016) Phillip Zaworski et al.   PLoS One

Detection of Survival Motor Neuron Protein in Buccal Cells Through Electrochemiluminescence-Based Assay

(2015) Hannes Steinkellner et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt et al.   HUMAN MOLECULAR GENETICS

SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination

(2015) Dorothy Yanling Zhao et al.   NATURE

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls

(2015) Christian Czech et al.   PLoS One

A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry

(2014) Masayuki Arakawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

(2014) Justin G. Boyer et al.   HUMAN MOLECULAR GENETICS

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: Implications for pre-clinical studies and clinical trials for spinal muscular atrophy

(2014) Gillian Hunter et al.   NEUROMUSCULAR DISORDERS

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

(2013) Brunhilde Wirth et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

(2013) Gillian Hunter et al.   HUMAN MOLECULAR GENETICS

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

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

(2012) Francesco D Tiziano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

VPA response in SMA is suppressed by the fatty acid translocase CD36

(2012) L. Garbes et al.   HUMAN MOLECULAR GENETICS

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

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

Childhood spinal muscular atrophy: controversies and challenges

(2012) Eugenio Mercuri et al.   LANCET 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

Evaluation of Peripheral Blood Mononuclear Cell Processing and Analysis for Survival Motor Neuron Protein

(2012) Dione T. Kobayashi et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

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

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

(2011) Eva Also-Rallo 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

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses

(2011) Dione T. Kobayashi et al.   PLoS One

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

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

(2011) B. Akten et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Expression Profiles from Peripheral Blood Mononuclear Cells Are Sensitive to Short Processing Delays

(2010) Michael G. Barnes et al.   BIOPRESERVATION AND BIOBANKING

Time-dependent changes in the expression of lymphocyte and monocyte cell adhesion molecules after meals of different composition

(2010) Esther Torrecilla et al.   BRITISH JOURNAL OF NUTRITION

Isolation and preservation of peripheral blood mononuclear cells for analysis of islet antigen-reactive T cell responses: position statement of the T-Cell Workshop Committee of the Immunology of Diabetes Society

(2010) R. Mallone et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

(2010) F. D. Tiziano et al.   JOURNAL OF MEDICAL GENETICS

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid

(2010) S. Piepers et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

(2010) Florence Petit et al.   MUSCLE & NERVE

Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy

(2010) T.- H. Chen 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

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

(2009) S Rudnik-Schöneborn et al.   CLINICAL GENETICS

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

(2009) Francesco Danilo Tiziano et al.   EUROPEAN 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

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

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

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

(2008) Jan Hauke 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

Natural history of SMA IIIb: Muscle strength decreases in a predictable sequence and magnitude

(2008) F. Deymeer et al.   NEUROLOGY

A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy

(2008) N. thi Man et al.   NEUROLOGY

Survival in SMA type I: A prospective analysis of 34 consecutive cases

(2008) J.M. Cobben et al.   NEUROMUSCULAR DISORDERS