Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes

The effect of differentiation and TGFβ on mitochondrial respiration and mitochondrial enzyme abundance in cultured primary human skeletal muscle cells

(2018) Christoph Hoffmann et al.   Scientific Reports

The clinical landscape for SMA in a new therapeutic era

(2017) K Talbot et al.   GENE THERAPY

Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion

(2017) Jasmin E. Martin et al.   JOURNAL OF NEUROSCIENCE

Derivation of human embryonic stem cell line Genea019

(2016) Biljana Dumevska et al.   Stem Cell Research

Derivation of Genea016 human embryonic stem cell line

(2016) Biljana Dumevska et al.   Stem Cell Research

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

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

(2015) Chiara Simone et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons

(2015) Teresa N. Patitucci et al.   HUMAN MOLECULAR GENETICS

SMN1andSMN2copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

(2015) Deborah L. Stabley et al.   Molecular Genetics & Genomic Medicine

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

(2015) Christian Czech et al.   PLoS One

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

(2014) Katherine V. Bricceno 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

Derivation of Myogenic Progenitors Directly From Human Pluripotent Stem Cells Using a Sphere-Based Culture

(2014) Tohru Hosoyama et al.   Stem Cells Translational Medicine

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

(2013) Jered V. McGivern et al.   GLIA

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

(2013) Monir Shababi et al.   JOURNAL OF ANATOMY

Cyclosporine A normalizes mitochondrial coupling, reactive oxygen species production, and inflammation and partially restores skeletal muscle maximal oxidative capacity in experimental aortic cross-clamping

(2013) Julien Pottecher et al.   JOURNAL OF VASCULAR SURGERY

More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases

(2013) Justin G. Boyer et al.   Frontiers in Physiology

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

Spinal muscular atrophy: going beyond the motor neuron

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

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

(2010) Gyu-Hwan Park et al.   Current Neurology and Neuroscience Reports

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

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

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

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

(2008) Michael P. Walker et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET