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

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt 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

Type 0 spinal muscular atrophy with multisystem involvement

(2015) Sanjeev Khera et al.   INDIAN PEDIATRICS

Advances in therapeutic development for spinal muscular atrophy

(2014) Matthew D Howell et al.   Future Medicinal Chemistry

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

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

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

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

(2014) Chiara Zanetta et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?

(2014) Kathryn J. Swoboda   JOURNAL OF CLINICAL INVESTIGATION

Mechanisms Involved in Spinal Cord Central Synapse Loss in a Mouse Model of Spinal Muscular Atrophy

(2014) Olga Tarabal et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

(2014) Arwin Aghamaleky Sarvestany et al.   JOURNAL OF PROTEOME RESEARCH

Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

(2014) Li-Kai Tsai et al.   MOLECULAR THERAPY

Sensory Neurons Do Not Induce Motor Neuron Loss in a Human Stem Cell Model of Spinal Muscular Atrophy

(2014) Andrew J. Schwab et al.   PLoS One

ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets

(2014) Emmanuelle Coque et al.   Frontiers in Neuroscience

Epitope-based DNA vaccine for Alzheimer's disease: Translational study in macaques

(2013) Claire F. Evans et al.   Alzheimers & Dementia

Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials

(2013) Chiara Zanetta et al.   CLINICAL THERAPEUTICS

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

(2013) Jered V. McGivern et al.   GLIA

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

(2013) Gillian Hunter et al.   HUMAN MOLECULAR GENETICS

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

(2013) Monir Shababi et al.   JOURNAL OF ANATOMY

Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice

(2013) Sofia Benkhelifa-Ziyyat et al.   MOLECULAR THERAPY

Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy

(2013) E. Dachs et al.   NEUROSCIENCE

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

(2013) Chalermchai Mitrpant et al.   PLoS One

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

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Impaired blood–brain/spinal cord barrier in ALS patients

(2012) Svitlana Garbuzova-Davis 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

Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks

(2012) Zarazuela Zolkipli et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons

(2012) Reena Rathod et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Schwann cell myelination requires integration of laminin activities

(2012) K. K. McKee et al.   JOURNAL OF CELL SCIENCE

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

(2012) Monir Shababi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Preservation of VGLUT1 synapses on ventral calbindin-immunoreactive interneurons and normal locomotor function in a mouse model of spinal muscular atrophy

(2012) Vatsala Thirumalai et al.   JOURNAL OF NEUROPHYSIOLOGY

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

Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice

(2012) Olivier Biondi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Defects in neuromuscular junction remodelling in the Smn2B/− mouse model of spinal muscular atrophy

(2012) Lyndsay M. Murray et al.   NEUROBIOLOGY OF DISEASE

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

Spinal muscular atrophy: going beyond the motor neuron

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

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy

(2011) Jacqueline J. Glascock et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A grounded theory investigation of life experience and the role of social support for adolescent offspring after parental brain injury

(2011) Agueda Moreno-Lopez et al.   BRAIN INJURY

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

Decreasing Disease Severity in Symptomatic, Smn−/−;SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

(2011) Jacqueline J. Glascock et al.   HUMAN GENE THERAPY

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle 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

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

(2011) Elisabet Dachs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

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

(2011) George Z. Mentis et al.   NEURON

Spinal muscular atrophy

(2011) Adele D'Amico et al.   Orphanet Journal of Rare Diseases

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy

(2010) Monir Shababi et al.   HUMAN GENE THERAPY

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

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi 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

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman 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

Nitric Oxide Induces Pathological Synapse Loss by a Protein Kinase G-, Rho Kinase-Dependent Mechanism Preceded by Myosin Light Chain Phosphorylation

(2010) C. R. Sunico et al.   JOURNAL OF NEUROSCIENCE

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

Regulation of synaptic connectivity by glia

(2010) Cagla Eroglu et al.   NATURE

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

Signaling pathways that mediate nerve growth factor-induced increase in expression and release of calcitonin gene-related peptide from sensory neurons

(2010) K.A. Park et al.   NEUROSCIENCE

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

Gliotransmission: Exocytotic release from astrocytes

(2009) Vladimir Parpura et al.   BRAIN RESEARCH REVIEWS

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR GENETICS

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

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

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

Does neuroinflammation fan the flame in neurodegenerative diseases?

(2009) Tamy C Frank-Cannon et al.   Molecular Neurodegeneration

Early effects of carbachol on the morphology of motor endplates of mammalian skeletal muscle fibers

(2009) Tilman Voigt   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

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

(2008) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of Schwann cell function by the extracellular matrix

(2008) Michael A. Chernousov et al.   GLIA

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

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

(2008) Ferrill F. Rose 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

Malignant Ventricular Arrhythmia in a Case of Adult Onset of Spinal Muscular Atrophy (Kugelberg-Welander Disease)

(2008) MARKUS ROOS et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for

(2008) John R. Bach   Paediatric Respiratory Reviews

Adaptive Immune Neuroprotection in G93A-SOD1 Amyotrophic Lateral Sclerosis Mice

(2008) Rebecca Banerjee et al.   PLoS One

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

(2008) G. E. Oprea et al.   SCIENCE