Results 11 to 20 of about 77,164 (290)
Neurotherapeutics, 2008 Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Maryam, Oskoui, Petra, Kaufmann
exaly +6 more sources
Pediatric Neurology Briefs, 1990 Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
doaj +3 more sources
Spinal muscular atrophy and ependymoma
Saudi Journal of Medicine and Medical Sciences, 2017 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr +3 more
doaj +3 more sources
Neurologic Clinics, 2015 Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J, Kolb, John T, Kissel
openaire +2 more sources
BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3
İstanbul Tıp Fakültesi Dergisi, 2022 Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu +7 more
doaj +1 more source
Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report
Journal of Rehabilitation Medicine - Clinical Communications, 2022 Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh +7 more
doaj +1 more source
Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]
, 2012 Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas +48 more
core +8 more sources
Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]
Kosin Medical Journal, 2019 Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj +1 more source
Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]
, 2019 Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core +1 more source
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]
, 2018 Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J. +10 more
core +4 more sources