Spinal muscular atrophy: mutations, testing, and clinical relevance
MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
… 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 …
analysis in Spanish spinal muscular … Deletions of the survival motor neuron gene in unaffected …
[PDF][PDF] Homozygous deletion of exon 7 in SMN1 gene without phenotypic features of spinal muscular atrophy.
… 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. …
carriers of spinal muscular atrophy. Hum Mol Genet 1996;5(3):359-65. doi: 10.1093/ hmg/5.3.359. …
[HTML][HTML] Muscle-specific SMN reduction reveals motor neuron–independent disease in spinal muscular atrophy models
… 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 …
inducible Smn deletion allele (Smn F7 ) … We therefore quantified and characterized motor neuron …
Spinal muscular atrophy
… 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…
of development that affect the … the relatively high carrier frequency of deletions in SMN1 (0.98…
[HTML][HTML] What genetics has told us and how it can inform future experiments for spinal muscular atrophy, a perspective
AJ Blatnik III, VL McGovern, AHM Burghes - International journal of …, 2021 - mdpi.com
… 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 …
of the SMN1 gene, but retention … to improve outcomes of symptomatic SMA patients. Together …
[HTML][HTML] Spinal muscular atrophy
TW Prior, ME Leach, E Finanger - 2020 - europepmc.org
… 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 …
weakness and atrophy … horn cells in the spinal cord (ie, lower motor neurons) and the brain …
[HTML][HTML] Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
H Nishio, ETE Niba, T Saito, K Okamoto… - International Journal of …, 2023 - mdpi.com
… Spinal muscular atrophy (SMA) is a lower motor neuron … , molecular genetic analysis,
and treatment of this disease. … How NAIP protein deletion contributes to lower motor neuron …
and treatment of this disease. … How NAIP protein deletion contributes to lower motor neuron …
[HTML][HTML] Evaluation of genotypes and epidemiology of spinal muscular atrophy in Greece: a nationwide study spanning 24 years
K Kekou, M Svingou, C Sofocleous… - Journal of …, 2020 - content.iospress.com
… is the progressive wasting of lower motor neurons situated in … on the molecular genetic
analysis of the SMN1 gene locus of … and characterization of either single exonic deletions or gene …
analysis of the SMN1 gene locus of … and characterization of either single exonic deletions or gene …
[HTML][HTML] Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy
MO Deguise, Y De Repentigny, A Tierney… - …, 2020 - thelancet.com
… genetic basis of SMA involves a deletion or mutation of the survival motor neuron 1 (SMN1)
gene … will allow for better characterization of molecular changes within motor neurons, and to …
gene … will allow for better characterization of molecular changes within motor neurons, and to …
[HTML][HTML] Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
… The survival motor neuron (SMN) genes, SMN1 and SMN2, … molecular genetic analysis is
necessary to find the deletion or … of carriers become symptomatic [15]. Owing to the limitation of …
necessary to find the deletion or … of carriers become symptomatic [15]. Owing to the limitation of …