Results 11 to 20 of about 9,755 (237)

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots [PDF]

International Journal of Neonatal Screening, 2020
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients.
Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara   +11 more
doaj   +3 more sources

Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy [PDF]

Cell Death and Disease, 2023
The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative.
Francesco Chemello, Michela Pozzobon, Lorenza Iolanda Tsansizi, Tatiana Varanita, Rubèn Quintana-Cabrera, Daniele Bonesso, Martina Piccoli, Gerolamo Lanfranchi, Marta Giacomello, Luca Scorrano, Camilla Bean   +10 more
doaj   +4 more sources

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

PLOS ONE, 2016
The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. We investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness.Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included ...
El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, Pradat, Pierre-François   +12 more
core   +6 more sources

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes.
Brkušanin Miloš, Jeftović-Velkova Irena, Jovanović Vladimir M., Perić Stojan, Pešović Jovan, Brajušković Goran, Stević Zorica, Savić-Pavićević Dušanka   +7 more
doaj   +6 more sources

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript [PDF]

Frontiers in Neurology, 2023
IntroductionSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the SMN1 gene. The majority of SMA patients harbor a homozygous deletion of SMN1 exon 7 (95%).
Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, Anthi Georghiou, Paschalis Nicolaou, George Tanteles, Kyproula Christodoulou   +6 more
doaj   +2 more sources

SMN1 gene duplications are associated with sporadic ALS [PDF]

Neurology, 2012
To investigate the role of SMN1 and SMN2 copy number variation and point mutations in amyotrophic lateral sclerosis (ALS) pathogenesis in a large population.We conducted a genetic association study including 847 patients with ALS and 984 controls. We used multiplexed ligation-dependent probe amplification (MLPA) assays to determine SMN1 and SMN2 copy ...
H. M. Blauw, C. P. Barnes, P. W. J. van Vught, W. van Rheenen, M. Verheul, E. Cuppen, J. H. Veldink, L. H. van den Berg   +7 more
openaire   +4 more sources

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

Genes, 2023
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers.
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva   +8 more
openaire   +3 more sources

SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data

, 2020
© 2020 The Authors.Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single ...
Daniel López-López, Carlos Loucera, Rosario Carmona, Virginia Aquino, Josefa Salgado, Sara Pasalodos, María Miranda, Ángel Alonso, Joaquı́n Dopazo   +8 more
openalex   +2 more sources

Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 [PDF]

European Journal of Human Genetics, 2003
Most carriers of autosomal recessive spinal muscular atrophy (SMA) have only one copy of SMN1 because of SMN1 gene deletions or gene conversions from SMN1 to SMN2, which has only one base difference in coding sequence from SMN1. Using SMN gene dosage analysis, we determined the copy numbers of SMN1 and SMN2 in the general population as well as in SMA ...
Shuji, Ogino, Sizhen, Gao, Debra G B, Leonard, Michele, Paessler, Robert B, Wilson   +4 more
openaire   +5 more sources

Colorimetric Assay for Exon 7 SMN1/SMN2 Single Nucleotide Polymorphism Using Gold Nanoprobes [PDF]

BioImpacts, 2013
Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN).
Hossein Ahmadpour-Yazdi, Mohammad Reza Hormozi-Nezhad, Ali Reza Abadi, Mohammad Hossein Sanati, Bahram Kazemi   +4 more
doaj   +2 more sources