Related references
Note: Only part of the references are listed.Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
Yimin Hua et al.
GENES & DEVELOPMENT (2015)
Astrocytes influence the severity of spinal muscular atrophy
Hansjoerg Rindt et al.
HUMAN MOLECULAR GENETICS (2015)
Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I
Brian N. Harding et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2015)
Epitope-based DNA vaccine for Alzheimer's disease: Translational study in macaques
Claire F. Evans et al.
ALZHEIMERS & DEMENTIA (2014)
Molecular Therapeutic Strategies for Spinal Muscular Atrophies: Current and Future Clinical Trials
Chiara Zanetta et al.
CLINICAL THERAPEUTICS (2014)
Advances in therapeutic development for spinal muscular atrophy
Matthew D. Howell et al.
FUTURE MEDICINAL CHEMISTRY (2014)
SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy
Gillian Hunter et al.
HUMAN MOLECULAR GENETICS (2014)
Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy
Justin G. Boyer et al.
HUMAN MOLECULAR GENETICS (2014)
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2014)
Type 0 Spinal Muscular Atrophy with Multisystem Involvement
Sanjeev Khera et al.
INDIAN PEDIATRICS (2014)
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
Monir Shababi et al.
JOURNAL OF ANATOMY (2014)
Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)
Chiara Zanetta et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2014)
SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?
Kathryn J. Swoboda
JOURNAL OF CLINICAL INVESTIGATION (2014)
Mechanisms Involved in Spinal Cord Central Synapse Loss in a Mouse Model of Spinal Muscular Atrophy
Olga Tarabal et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2014)
Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy
Arwin Aghamaleky Sarvestany et al.
JOURNAL OF PROTEOME RESEARCH (2014)
Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice
Li-Kai Tsai et al.
MOLECULAR THERAPY (2014)
Sensory Neurons Do Not Induce Motor Neuron Loss in a Human Stem Cell Model of Spinal Muscular Atrophy
Andrew J. Schwab et al.
PLOS ONE (2014)
ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets
Emmanuelle Coque et al.
FRONTIERS IN NEUROSCIENCE (2014)
Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production
Jered V. McGivern et al.
GLIA (2013)
Preservation of VGLUT1 synapses on ventral calbindin-immunoreactive interneurons and normal locomotor function in a mouse model of spinal muscular atrophy
Vatsala Thirumalai et al.
JOURNAL OF NEUROPHYSIOLOGY (2013)
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice
Sofia Benkhelifa-Ziyyat et al.
MOLECULAR THERAPY (2013)
Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy
Lyndsay M. Murray et al.
NEUROBIOLOGY OF DISEASE (2013)
CHRONIC TREATMENT WITH LITHIUM DOES NOT IMPROVE NEUROMUSCULAR PHENOTYPE IN A MOUSE MODEL OF SEVERE SPINAL MUSCULAR ATROPHY
E. Dachs et al.
NEUROSCIENCE (2013)
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
Chalermchai Mitrpant et al.
PLOS ONE (2013)
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Zhenxi Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Spinal muscular atrophy: going beyond the motor neuron
Gillian Hamilton et al.
TRENDS IN MOLECULAR MEDICINE (2013)
Glucose metabolism and pancreatic defects in spinal muscular atrophy
Melissa Bowerman et al.
ANNALS OF NEUROLOGY (2012)
Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy
Jacqueline J. Glascock et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Impaired blood-brain/spinal cord barrier in ALS patients
Svitlana Garbuzova-Davis et al.
BRAIN RESEARCH (2012)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
Wendy L. Imlach et al.
CELL (2012)
Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks
Zarazuela Zolkipli et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons
Reena Rathod et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2012)
Decreasing Disease Severity in Symptomatic, Smn-/-; SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery
Jacqueline J. Glascock et al.
HUMAN GENE THERAPY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
Schwann cell myelination requires integration of laminin activities
Karen K. Mckee et al.
JOURNAL OF CELL SCIENCE (2012)
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
Monir Shababi et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2012)
Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
Rocky G. Gogliotti et al.
JOURNAL OF NEUROSCIENCE (2012)
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
JOURNAL OF NEUROSCIENCE (2012)
Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice
Olivier Biondi et al.
JOURNAL OF PHYSIOLOGY-LONDON (2012)
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
Melissa Bowerman et al.
NEUROMUSCULAR DISORDERS (2012)
Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy
Andrew J-H Lee et al.
PLOS ONE (2012)
A grounded theory investigation of life experience and the role of social support for adolescent offspring after parental brain injury
Agueda Moreno-Lopez et al.
BRAIN INJURY (2011)
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
Young Il Lee et al.
DEVELOPMENTAL BIOLOGY (2011)
Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy
Monir Shababi et al.
HUMAN GENE THERAPY (2011)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
Elisa Dominguez et al.
HUMAN MOLECULAR GENETICS (2011)
The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin
Anna Noelle et al.
HUMAN MOLECULAR GENETICS (2011)
Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy
Elisabet Dachs et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
Spinal muscular atrophy
Adele D'Amico et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Gliotransmission: Exocytotic release from astrocytes
Vladimir Parpura et al.
BRAIN RESEARCH REVIEWS (2010)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2010)
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier et al.
HUMAN MOLECULAR GENETICS (2010)
Cardiac defects contribute to the pathology of spinal muscular atrophy models
Monir Shababi et al.
HUMAN MOLECULAR GENETICS (2010)
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan et al.
HUMAN MOLECULAR GENETICS (2010)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2010)
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
Marco A. Passini et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Nitric Oxide Induces Pathological Synapse Loss by a Protein Kinase G-, Rho Kinase-Dependent Mechanism Preceded by Myosin Light Chain Phosphorylation
Carmen R. Sunico et al.
JOURNAL OF NEUROSCIENCE (2010)
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
Gyu-Hwan Park et al.
JOURNAL OF NEUROSCIENCE (2010)
EARLY EFFECTS OF CARBACHOL ON THE MORPHOLOGY OF MOTOR ENDPLATES OF MAMMALIAN SKELETAL MUSCLE FIBERS
Tilman Voigt
MUSCLE & NERVE (2010)
Regulation of synaptic connectivity by glia
Cagla Eroglu et al.
NATURE (2010)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
SIGNALING PATHWAYS THAT MEDIATE NERVE GROWTH FACTOR-INDUCED INCREASE IN EXPRESSION AND RELEASE OF CALCITONIN GENE-RELATED PEPTIDE FROM SENSORY NEURONS
K. A. Park et al.
NEUROSCIENCE (2010)
Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
Karen K. Y. Ling et al.
PLOS ONE (2010)
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
Ferrill F. Rose et al.
HUMAN MOLECULAR GENETICS (2009)
Malignant Ventricular Arrhythmia in a Case of Adult Onset of Spinal Muscular Atrophy (Kugelberg-Welander Disease)
Markus Roos et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2009)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy
Alexandra Prufer de Queiroz Campos Araujo et al.
JOURNAL OF PEDIATRICS (2009)
Does neuroinflammation fan the flame in neurodegenerative diseases?
Tamy C. Frank-Cannon et al.
MOLECULAR NEURODEGENERATION (2009)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes et al.
NATURE REVIEWS NEUROSCIENCE (2009)
Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
Dirk Baeumer et al.
PLOS GENETICS (2009)
Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Leonie A. Menke et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Regulation of Schwann Cell Function by the Extracellular Matrix
Michael A. Chernousov et al.
GLIA (2008)
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Tatiana O. Gavrilina et al.
HUMAN MOLECULAR GENETICS (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Embryonic motor axon development in the severe SMA mouse
Vicki L. McGovern et al.
HUMAN MOLECULAR GENETICS (2008)
The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type I: the motion for
John R. Bach
PAEDIATRIC RESPIRATORY REVIEWS (2008)
Adaptive Immune Neuroprotection in G93A-SOD1 Amyotrophic Lateral Sclerosis Mice
Rebecca Banerjee et al.
PLOS ONE (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
Lyndsay M. Murray et al.
HUMAN MOLECULAR GENETICS (2008)
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S. Rudnik-Schoeneborn et al.
JOURNAL OF MEDICAL GENETICS (2008)
Wrapping it up: the cell biology of myelination
Mikael Simons et al.
CURRENT OPINION IN NEUROBIOLOGY (2007)
Molecular mechanisms of spinal muscular atrophy
Charlotte J. Sumner
JOURNAL OF CHILD NEUROLOGY (2007)
Congenital bone fractures in spinal muscular atrophy: Functional role for SMN protein in bone remodeling
Srinivasan Shanmugarajan et al.
JOURNAL OF CHILD NEUROLOGY (2007)
The phagocytic capacity of neurones
Samantha Bowen et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2007)
Medical considerations of long-term survival of Werdnig-Hoffmann disease
John R. Bach
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2007)
A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle
T. K. Rajendra et al.
JOURNAL OF CELL BIOLOGY (2007)
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
Melissa Bowerman et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2007)
Cardiac involvement in Kugelberg-Welander disease: A case report and review
Nobuyuki Takahashi et al.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES (2006)
Innate immunity in amyotrophic lateral sclerosis
Katie Moisse et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
VEGF at the neurovascular interface: Therapeutic implications for motor neuron disease
Diether Lambrechts et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy
S Jablonka et al.
HUMAN MOLECULAR GENETICS (2006)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (2005)
Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA
J Wang et al.
NEUROBIOLOGY OF DISEASE (2005)
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
Y Hachiya et al.
BRAIN & DEVELOPMENT (2005)
Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
D Shafey et al.
EXPERIMENTAL CELL RESEARCH (2005)
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive in spinal muscular atrophy
H Arai et al.
JOURNAL OF CHILD NEUROLOGY (2005)
The Rho family of small GTPases: crucial regulators of skeletal myogenesis
BA Bryan et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2005)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
MEK inhibitor, U0126, attenuates cisplatin-induced renal injury by decreasing inflammation and apoptosis
SK Jo et al.
KIDNEY INTERNATIONAL (2005)
Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy
E Anagnostou et al.
JOURNAL OF CHILD NEUROLOGY (2005)
Microglia as potential contributors to motor neuron injury in amyotrophic lateral sclerosis
SA Sargsyan et al.
GLIA (2005)
Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy
K Khawaja et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2004)
SP600125, a new JNK inhibitor, protects dopaminergic neurons in the MPTP model of Parkinson's disease
WY Wang et al.
NEUROSCIENCE RESEARCH (2004)
Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
AS Arnold et al.
LABORATORY INVESTIGATION (2004)
Sphingosine 1-phosphate induces cell contraction via calcium-independent/Rho-dependent pathways in undifferentiated skeletal muscle cells
L Formigli et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2004)
Deletion of murine Smn Exon 7 directed to liver leads to severe defect of liver development associated with iron overload
JM Vitte et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
Erbb2 regulates neuromuscular synapse formation and is essential for muscle spindle development
M Leu et al.
DEVELOPMENT (2003)
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle
S Nicole et al.
JOURNAL OF CELL BIOLOGY (2003)
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
S Rudnik-Schöneborn et al.
NEUROLOGY (2003)
Neuroinflammation in Alzheimer's disease and prion disease
P Eikelenboom et al.
GLIA (2002)
Inflammatory processes in amyotrophic lateral sclerosis
PL McGeer et al.
MUSCLE & NERVE (2002)
Severe spinal muscular atrophy variant associated with congenital bone fractures
U Felderhoff-Mueser et al.
JOURNAL OF CHILD NEUROLOGY (2002)
Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein
DS Sohal et al.
CIRCULATION RESEARCH (2001)
S100: a multigenic family of calcium-modulated proteins of the EF-hand type with intracellular and extracellular functional roles
R Donato
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2001)
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
C Cifuentes-Diaz et al.
JOURNAL OF CELL BIOLOGY (2001)
Control of synapse number by glia
EM Ullian et al.
SCIENCE (2001)