Related references
Note: Only part of the references are listed.A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein
Monica Hayhurst et al.
DEVELOPMENTAL BIOLOGY (2012)
Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
Karen K. Y. Ling et al.
HUMAN MOLECULAR GENETICS (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)
A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy
Matteo Ruggiu et al.
MOLECULAR AND CELLULAR BIOLOGY (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)
The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations
Jeffrey M. Dale et al.
ACTA NEUROPATHOLOGICA (2011)
Purification of the Human SMN-GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions
Motoki Takaku et al.
BIOCHEMISTRY (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)
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy
Chantal A. Mutsaers et al.
HUMAN MOLECULAR GENETICS (2011)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
Cathleen M. Lutz et al.
JOURNAL OF CLINICAL INVESTIGATION (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)
To build a synapse: signaling pathways in neuromuscular junction assembly
Haitao Wu et al.
DEVELOPMENT (2010)
Coilin interacts with Ku proteins and inhibits in vitro non-homologous DNA end joining
Venkatramreddy Velma et al.
FEBS LETTERS (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)
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)
GEMIN2 promotes accumulation of RAD51 at double-strand breaks in homologous recombination
Yoshimasa Takizawa et al.
NUCLEIC ACIDS RESEARCH (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)
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
Kathrin Meyer et al.
HUMAN MOLECULAR GENETICS (2009)
The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation
Rebeca Martinez-Hernandez et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (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)
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)
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain
Michael P. Walker et al.
HUMAN MOLECULAR GENETICS (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)
Refined characterization of the expression and stability of the SMN gene products
Jeremie Vitte et al.
AMERICAN JOURNAL OF PATHOLOGY (2007)
Gemin2 plays an important role in stabilizing the survival of motor neuron complex
Chihiro Ogawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
Veronica Setola et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Pathophysiology of duchenne muscular dystrophy: Current hypotheses
Nicolas Deconinck et al.
PEDIATRIC NEUROLOGY (2007)
The skeletal muscle satellite cell: the stem cell that came in from the cold
Peter S. Zammit et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2006)
Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system
Alessio Giavazzi et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2006)
Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
UR Monani
NEURON (2005)
Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
D Shafey et al.
EXPERIMENTAL CELL RESEARCH (2005)
Molecular interaction map of the p53 and Mdm2 logic elements, which control the Off-On switch of p53 in response to DNA damage
KW Kohn et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion
MA García-Cabezas et al.
ACTA NEUROPATHOLOGICA (2004)
Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients
AS Arnold et al.
LABORATORY INVESTIGATION (2004)
Replication Protein A phosphorylation and the cellular response to DNA damage
SK Binz et al.
DNA REPAIR (2004)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (2002)
The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway
S Massenet et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
C Soler-Botija et al.
BRAIN (2002)
Spinal muscular atrophy: Recent advances and future prospects
S Nicole et al.
MUSCLE & NERVE (2002)
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
L Fan et al.
HUMAN MOLECULAR GENETICS (2002)
The molecular bases of spinal muscular atrophy
T Frugier et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2002)
Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy
S Guettier-Sigrist et al.
MUSCLE & NERVE (2002)
Apoptosis-inducing factor (AIF):: a novel caspase-independent death effector released from mitochondria
C Candé et al.
BIOCHIMIE (2002)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
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)
Detection of apoptosis in tissue sections
C Stadelmann et al.
CELL AND TISSUE RESEARCH (2000)
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
T Frugier et al.
HUMAN MOLECULAR GENETICS (2000)
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)
Share Paper
