Spinal muscular atrophy

MR Lunn, CH Wang - The Lancet, 2008 - thelancet.com
… degeneration of spinal cord motor neurons, atrophy of skeletal … of the survival motor
neuron 1 (SMN1) gene by deletion, … characterization of a spinal muscular atrophy-determining …

Technical standards and guidelines for spinal muscular atrophy testing

TW Prior, N Nagan, EA Sugarman, SD Batish… - Genetics in …, 2011 - nature.com
… in the survival motor neuron (SMN1) gene, affecting … disease is characterized by progressive
symmetrical muscle … the SMN1 gene may be considered when SMN1 deletion analysis is …

Spinal muscular atrophy: newborn and carrier screening

TW Prior - Obstetrics and Gynecology Clinics, 2010 - obgyn.theclinics.com
… mutations in the survival motor neuron (SMN1) gene, affecting … The disease is characterized
by progressive symmetric muscle … to have SMA should be the SMN1 gene deletion test. The …

Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy

H Nishio, H Horikawa, H Yakura… - Acta neurologica …, 1999 - Wiley Online Library
asymptomatic individuals with a homozygous deletion of the SMN … gene deletion analysis
of childhood spinal muscular atrophy. … Characterization of survival motor neuron (SMNT) gene

Spinal muscular atrophy: a clinical and research update

JA Markowitz, P Singh, BT Darras - Pediatric neurology, 2012 - Elsevier
deletions involving exon 7 of the “survival of motor neuron” (… modifier of spinal muscular
atrophy in asymptomatic SMN1-… analysis of fetuses with type I spinal muscular atrophy at 12-…

[PDF][PDF] Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

L Campbell, A Potter, J Ignatius, V Dubowitz… - The American Journal of …, 1997 - cell.com
… described in asymptomatic siblings and parents of afSMN … PCR and enzyme-digestion method
used in the deletion analysis, … ies of the survival motor neuron gene in families with spinal

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

CA Kim, MR Passos-Bueno, SK Marie… - … and Molecular Biology, 1999 - SciELO Brasil
… Two candidate genes, the survival motor neuron (SMN) gene and the … However, analysis
of deletions in both NAIP and SMN genes in a large number of SMA patients suggests that …

Spinal muscular atrophies

BT Darras, JA Markowitz, UR Monani… - … disorders of infancy …, 2015 - Elsevier
deletions or mutations involving the “survival of motor neuron” (… protective modifier of SMA
in asymptomatic SMN1-deleted females… SMA is characterized by spinal motor neuron loss and …

The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

S Lefebvre, L Bürglen, J Frézal… - Human molecular …, 1998 - academic.oup.com
… of lower motor neurons. The identification of the disease … disorders characterized by the
degeneration of spinal … of the SMNt gene in SMA patients: a gene deletion in type I SMA and a …

Molecular genetic study of a childhood form of spinal muscular atrophy

V Wong, V Chan - Journal of Child Neurology, 2001 - journals.sagepub.com
… 2 or 3 spinal muscular atrophy had deletion of the SMN gene (96… the survival motor neuron
gene in patients with spinal muscularanalysis of survival motor neuron (SMN) and neuronal