Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Voltage-dependent anion channel 2 modulates resting Ca2+ sparks, but not action potential-induced Ca2+ signaling in cardiac myocytes

(2011) Krishna Prasad Subedi et al.   CELL CALCIUM

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

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

ApoE isoform-specific regulation of regeneration in the peripheral nervous system

(2011) Laura H. Comley et al.   HUMAN MOLECULAR GENETICS

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé et al.   HUMAN MOLECULAR GENETICS

Modeling spinal muscular atrophy inDrosophilalinksSmnto FGF signaling

(2011) Anindya Sen et al.   JOURNAL OF CELL BIOLOGY

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

Mechanical stimuli on C2C12 myoblasts affect myoblast differentiation, focal adhesion kinase phosphorylation and galectin-1 expression: a proteomic approach

(2010) Alberto Grossi et al.   CELL BIOLOGY INTERNATIONAL

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: mechanisms and therapeutic strategies

(2010) C. L. Lorson et al.   HUMAN MOLECULAR GENETICS

MST1 Promotes Apoptosis through Phosphorylation of Histone H2AX

(2010) Weihong Wen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Using mouse cranial muscles to investigate neuromuscular pathology in vivo

(2010) L.M. Murray et al.   NEUROMUSCULAR DISORDERS

Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

(2010) L. M. Murray et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Proteomic Analysis of the Dysferlin Protein Complex Unveils Its Importance for Sarcolemmal Maintenance and Integrity

(2010) Antoine de Morrée et al.   PLoS One

Increased expression of decorin during the regeneration stage of mdx mouse

(2009) Shinichi Abe et al.   ANATOMICAL SCIENCE INTERNATIONAL

Differential Expression of Sarcoplasmic and Myofibrillar Proteins of Rat Soleus Muscle during Denervation Atrophy

(2009) Yusuke SATO et al.   BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY

VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria

(2009) Soumya Sinha Roy et al.   EMBO REPORTS

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

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

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

Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax

(2009) H Yamagata et al.   ONCOGENE

Proteomic DIGE analysis of the mitochondria-enriched fraction from aged rat skeletal muscle

(2009) Kathleen O'Connell et al.   PROTEOMICS

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

(2009) Dirk Bäumer et al.   PLoS Genetics

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

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

Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers

(2007) Demetrios Stathas et al.   ACTA HISTOCHEMICA

Spinal muscular atrophy: Motoneurone or muscle disease?

(2007)   NEUROMUSCULAR DISORDERS