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 muscularDeletions 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.

M Ghanei, SH Sadat Fatemi, M Soudyab… - Neurology …, 2022 - neurology-asia.org
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. …

[HTML][HTML] Muscle-specific SMN reduction reveals motor neuron–independent disease in spinal muscular atrophy models

JK Kim, NN Jha, Z Feng, MR Faleiro… - The Journal of …, 2020 - Am Soc Clin Investig
… 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

Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
… 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…

[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 …

[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 …

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

C Ruhno, VL McGovern, MR Avenarius, PJ Snyder… - Human genetics, 2019 - Springer
Spinal muscular atrophy (SMA) is a progressive motorsurvival motor neuron one gene
(SMN1) and retention of the SMN2 … Upon analysis of the read alignments in this region, we found …

[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

[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

[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 …