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CELL DEATH & DISEASE, ISSN 2041-4889, 07/2019, Volume 10, Issue 7, pp. 515 - 14
Spinal Muscular Atrophy (SMA) is a childhood motor neuron disease caused by mutations or deletions within the SMN1 gene. At endstages of disease there is... 
SURVIVAL | APOPTOSIS | ACTIVATION | GENE | DISSOCIATION | DNA-DAMAGE | SMN DEFICIENCY | DYSFUNCTION | EXPRESSION | DEGENERATION | CELL BIOLOGY | Phenotypes | p53 Protein | SMN protein | Motor units | Neuropathy | Tamoxifen | Spinal muscular atrophy | Ventral roots | Axons | Pathology | Signal transduction | Motor neuron diseases | Neurodegeneration | Dieback | Neuromuscular junctions | Children | Cell body
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 01/2013, Volume 49, Issue 1, pp. 57 - 67
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease caused by mutations and deletions within the survival motor neuron 1 ( ) gene.... 
Remodelling | Sprouting | Endplate | Schwann cell | Neuromuscular junction | Spinal muscular atrophy
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 01/2013, Volume 49, p. 57
Journal Article
Journal Article
BMC Medicine, ISSN 1741-7015, 03/2012, Volume 10, Issue 1, pp. 24 - 24
Background: Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1... 
Muscle | NMJ | Survival motor neuron protein | Fasudil | Spinal muscular atrophy | PROTEIN | fasudil | RHO-KINASE INHIBITOR | LIM-KINASE | SMN EXPRESSION | SINGLE NUCLEOTIDE | DEGENERATION | MEDICINE, GENERAL & INTERNAL | GENE | muscle | survival motor neuron protein | spinal muscular atrophy | ACTIN CYTOSKELETON | DIFFERENTIATION | NEUROMUSCULAR-JUNCTION | Anterior Horn Cells - drug effects | Spinal Cord - drug effects | Longevity - drug effects | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - analogs & derivatives | Muscle Fibers, Skeletal - drug effects | Survival of Motor Neuron 2 Protein - metabolism | Motor Neurons - pathology | Dose-Response Relationship, Drug | Motor Endplate - drug effects | Spinal Cord - pathology | Motor Endplate - pathology | Muscle, Skeletal - drug effects | Weight Gain - drug effects | Survival of Motor Neuron 2 Protein - deficiency | Muscular Atrophy, Spinal - physiopathology | Motor Neurons - drug effects | Disease Models, Animal | Muscle, Skeletal - growth & development | Mice, Inbred C57BL | Anterior Horn Cells - pathology | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - therapeutic use | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - administration & dosage | Muscular Atrophy, Spinal - pathology | Gait - drug effects | Phenotype | Animals | Muscle Development - drug effects | 1-(5-Isoquinolinesulfonyl)-2-Methylpiperazine - pharmacology | Muscle, Skeletal - physiopathology | Muscle Fibers, Skeletal - pathology | Survival Analysis | Muscular Atrophy, Spinal - drug therapy | Mice | Spinal Cord - physiopathology | Muscle, Skeletal - pathology | Myogenin - metabolism | Motor Endplate - physiopathology | Prevention | Complications and side effects | Prognosis | Vasodilators | Patient outcomes | Dosage and administration | Infants | Research | Drug therapy | Atrophy, Muscular | Risk factors | Medical research | Musculoskeletal system | Pathogenesis | Laboratories | Colleges & universities | Mutation | Muscular system | FDA approval | Kinases | Drug dosages
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2012, Volume 49, pp. 57 - 67
Abstract Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease caused by mutations and deletions within the survival motor neuron 1 (... 
Neurology
Journal Article
FASEB Journal, ISSN 0892-6638, 01/2011, Volume 25, Issue 4, pp. 1306 - 1313
It is well established that developmental maturity is a key factor regulating the response of lower motor neurons to injury. The influence of age on the... 
Journal Article
Acta Neuropathologica Communications, ISSN 2051-5960, 09/2015, Volume 3, Issue 1
The term motor neuron disease encompasses a spectrum of disorders in which motor neurons are the lost. Importantly, while some motor neurons are lost early in... 
RNA | Neurons | Analysis | Genetic aspects | Genetic transcription | Children | Tumor proteins | Spinal muscular atrophy | Diseases
Journal Article
Journal Article
Human molecular genetics, ISSN 0964-6906, 07/2019
Spinal muscular atrophy (SMA) is a devastating infantile genetic disorder caused by the loss of survival motor neuron (SMN) protein that leads to premature... 
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 22, Issue 3, pp. 263 - 276
Abstract Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and characterized by loss of lower motor neurons and skeletal... 
Neurology | Selective vulnerability | Mouse model | Motor neuron | Smn threshold | Neuromuscular junction | Spinal muscular atrophy | SURVIVAL | VULNERABILITY | DEATH | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | INACTIVATION | MOTOR-NEURON GENE | PRODUCT | LEADS | Spinal Cord - metabolism | Age Factors | Neuromuscular Junction - metabolism | Nerve Degeneration - genetics | Sensation Disorders - etiology | Muscle, Skeletal - metabolism | Gait Disorders, Neurologic - genetics | RNA, Messenger - metabolism | Body Weight - genetics | Neuromuscular Diseases - genetics | Brain - metabolism | Muscular Atrophy, Spinal - genetics | Spinal Cord - pathology | Motor Endplate - pathology | Axons - ultrastructure | Neuromuscular Junction - genetics | Survival of Motor Neuron 1 Protein - genetics | Bungarotoxins - metabolism | Neuromuscular Junction - pathology | Disease Models, Animal | Animals, Newborn | Receptors, Cholinergic - metabolism | Gene Expression Regulation - genetics | Mice, Inbred C57BL | Muscle, Skeletal - ultrastructure | Reaction Time - genetics | Survival of Motor Neuron 1 Protein - metabolism | Muscular Atrophy, Spinal - pathology | Neuromuscular Junction - ultrastructure | Nerve Degeneration - pathology | Mice, Knockout | Phenotype | Animals | Axons - pathology | Motor Endplate - metabolism | Brain - pathology | Mice | Neuromuscular Diseases - etiology | Muscle, Skeletal - pathology | Muscular Atrophy, Spinal - complications | Sensation Disorders - genetics | Gait Disorders, Neurologic - etiology | Muscles | Genetic aspects | Neurons | Atrophy, Muscular | Analysis
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006680
Journal Article