… of function of the survival motor neuron gene SMN1 on 5q13 but … genetic and phenotypic
analysis in Spanish spinal muscular … Deletions of the survival motor neuron gene in unaffected …

… in the SMN1 gene, resulting in motor neuron degeneration and … In our analysis, we calculated
the percentages in two ways … when the genetic cause for SMA, deletion of the SMN1 gene, …

… Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic
carriers of spinal muscular atrophy. Hum Mol Genet 1996;5(3):359-65. doi: 10.1093/ hmg/5.3.359. …

… to the skeletal muscle of symptomatic mice proved beneficial. … to animals harboring an
inducible Smn deletion allele (Smn F7 ) … We therefore quantified and characterized motor neuron …

… to reduced expression of survival motor neuron protein (SMN)… characterized by impairments
of development that affect the … the relatively high carrier frequency of deletions in SMN1 (0.98…

… Gene-targeted deletion/duplication analysis to determine the … SMA is characterized by muscle
weakness and atrophy … horn cells in the spinal cord (ie, lower motor neurons) and the brain …

… changes of the SMN1 (survival motor neuron 1) gene. Please … analysis was used to identify
the SMN1 gene, deletion … on medical management for symptomatic patients with SMA. …

… of the ubiquitously expressed survival motor neuron (SMN) … % of all patients, become
symptomatic between 6 and 18 months … characterization of a spinal muscular atrophy-determining …

… characterized by motor neuron loss and subsequent atrophy … function mutation or deletion
of the SMN1 gene, but retention … to improve outcomes of symptomatic SMA patients. Together …

… Spinal muscular atrophy (SMA) is a progressive motor … survival motor neuron one gene
(SMN1) and retention of the SMN2 … Upon analysis of the read alignments in this region, we found …