Results 201 to 210 of about 9,755 (237)

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

Neuromuscular Disorders, 2007
Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one.
Renata Gaillyova, Jiří Fajkus, Lenka Fajkusova   +2 more
exaly   +3 more sources

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Human Mutation, 2004
Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted with the common molecular diagnostic test that ...
Olivier Clermont, P Burlet, Paule Benit   +2 more
exaly   +3 more sources

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

Neuromuscular Disorders, 2008
In most patients with infantile spinal muscular atrophy (SMA) both exons 7 and 8 of the SMN1 gene are deleted, but the deletion may also be restricted to exon 7. We report on an SMA type I patient who was initially diagnosed to be homozygous for an exon 7 deletion only.
Thomas Eggermann, Katja Eggermann, Miriam Elbracht   +2 more
exaly   +3 more sources

A Duplex Allele-Specific Amplification PCR to Detect SMN1 Deletion

Genetic Testing and Molecular Biomarkers, 2009
Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13. SMN is present in two highly homologous copies (SMN1 and SMN2).
Patrícia de Campos, Pieri, Jeronimo de Alencar, Nogueira, Maria Joaquina, Marques-Dias, Bernadete, Resende, Chong Ae, Kim, Umbertina Conti, Reed, Thelma Suely, Okay   +6 more
openaire   +3 more sources

TAT-SMN1-mediated protein delivery into mammalian cells

, 2018
Die spinale Muskelatrophie (SMA) ist eine schwerwiegende, autosomal-rezessiv vererbte neurodegenerative Erkrankung mit einer Trägerwahrscheinlichkeit von 1:40–1:60. Die Erkrankung betrifft eine von 10.000 Lebendgeburten pro Jahr. Spinale Muskelatrophie wird durch die Deletion des survival motor neuron 1 (SMN1) Gens bzw.
Kurtovic, Azra
openaire   +2 more sources

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

International Journal of Molecular Sciences
5q spinal muscular atrophy (5q SMA) is one of the most prevalent autosomal recessive disorders worldwide. In 5q SMA, cases of silent carriers have been reported, including SMN1 duplications, intragenic subtle variants, de novo variants, and mosaicism ...
K A Grishina, Olga Ismagilova, Olga Shchagina   +2 more
exaly   +2 more sources

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1

Journal of Child Neurology, 2014
Proximal spinal muscular atrophy is an autosomal recessive disorder characterized by symmetrical muscle weakness due to degeneration of alpha motor neurons in the spinal cord. Homozygous deletions in the SMN1 have been reported in more than 90% of spinal muscular atrophy cases.
Hamid, Ganji, Nayereh, Nouri, Mansoor, Salehi, Omid, Aryani, Massoud, Houshmand, Keivan, Basiri, Esmat, Fazel-Najafabadi, Maryam, Sedghi   +7 more
openaire   +2 more sources

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development [PDF]

International Journal of Molecular Sciences, 2021
Matthew E R Butchbach, Butchbach Matthew E R   +1 more
exaly   +2 more sources