Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

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

(2013) Jered V. McGivern et al.   GLIA

Temporal requirement for SMN in motoneuron development

(2013) Le T. Hao et al.   HUMAN MOLECULAR GENETICS

Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

(2013) Cao Yanyan et al.   JOURNAL OF HUMAN GENETICS

Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

(2012) Zhi-Bo Wang et al.   CELL RESEARCH

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

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects

(2012) L. T. Hao 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

Synaptic defects in type I spinal muscular atrophy in human development

(2012) Rebeca Martínez-Hernández et al.   JOURNAL OF PATHOLOGY

Inhibition of Apoptosis Blocks Human Motor Neuron Cell Death in a Stem Cell Model of Spinal Muscular Atrophy

(2012) Dhruv Sareen et al.   PLoS One

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

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy

(2012) Andrew J-H. Lee et al.   PLoS One

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

Spinal muscular atrophy: going beyond the motor neuron

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

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

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

Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality?

(2011) Sophie R. Thomson et al.   JOURNAL OF ANATOMY

Rapid and Efficient Generation of Functional Motor Neurons From Human Pluripotent Stem Cells Using Gene Delivered Transcription Factor Codes

(2011) Mark E Hester et al.   MOLECULAR THERAPY

Protein Transfer Into Human Cells by VSV-G-induced Nanovesicles

(2011) Philippe-Emmanuel Mangeot et al.   MOLECULAR THERAPY

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

(2011) Sara Bernal et al.   NEUROMUSCULAR DISORDERS

Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient

(2011) Tammy Chang et al.   STEM CELLS

Association of Plastin 3 Expression With Disease Severity in Spinal Muscular Atrophy Only in Postpubertal Females

(2010) George Stratigopoulos et al.   ARCHIVES OF NEUROLOGY

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

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

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

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

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

(2009) Rebeca Martínez-Hernández et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Differentiation of spinal motor neurons from pluripotent human stem cells

(2009) Bao-Yang Hu et al.   Nature Protocols

Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy

(2009) Qods Ymlahi-Ouazzani et al.   NEUROGENETICS

Non-Cell-Autonomous Effect of Human SOD1G37R Astrocytes on Motor Neurons Derived from Human Embryonic Stem Cells

(2008) Maria C.N. Marchetto et al.   Cell Stem Cell

Unaffected patients with a homozygous absence of the SMN1 gene

(2008) Maria Jędrzejowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice

(2008) Dina Shafey et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

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

(2008) G. E. Oprea et al.   SCIENCE

Directed Differentiation of Ventral Spinal Progenitors and Motor Neurons from Human Embryonic Stem Cells by Small Molecules

(2008) Xue-Jun Li et al.   STEM CELLS