Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
Frontiers in Genetics, 2020 Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (SMN1), exon 7 is the main cause of SMA in ~94% of patients worldwide, but only accounts ...
Elana Vorster +3 more
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Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA
International Journal of Neonatal Screening, 2019 Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA).
Cristina Gutierrez-Mateo +12 more
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Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
Egyptian Journal of Medical Human Genetics, 2020 Background Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene. SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is correlated with SMA severity ...
Yuri Yépez +2 more
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Mutational analysis of SMN gene in patients with spinal muscular atrophy and the correlation between mutation and the severity of clinical manifestations [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2017 Objective: studying of mutations in the SMN1, SMN2 and NAIP genes in the diagnosis of spinal muscular atrophy and determining the correlation between the mutation and the severity of clinical manifestations.
Almagul Nagimtaeeva +3 more
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A role for SMN1 duplications in amyotrophic lateral sclerosis [PDF]
Nature Reviews Neurology, 2012 openaire +2 more sources
Определение носителя делеции 7 экзона гена SMN1 методом qPCR [PDF]
, 2021 Institute of Mother and Child, Chișinău, Republic of MoldovaIntroducere. Atrofia musculară spinală (SMA) este o boală neuromusculară progresivă moștenită într-un mod autozomal recesiv.
Revenco, Ninel +3 more
core
Toward Comprehensive Detection of the SMN1/2 Genotypes
The Journal of Molecular DiagnosticsAiko Iwata‐Otsubo
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Atrofias musculares espinales no asociadas a SMN1
Revista Médica Clínica Las Condes, 2018 RESUMEN: Las atrofias musculares espinales no-5q son un conjunto de entidades hereditarias, clínica y genéticamente heterogéneas secundarias a compromiso de las células del asta anterior de la médula. No están asociadas a deleción del gen de sobrevida de la motoneurona (SMN1) responsable de la forma más conocida y clásica de atrofia muscular espinal ...
Claudia Castiglioni +1 more
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, 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%).
Paschalis Nicolaou +13 more
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A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]
PLoS ONE, 2012 Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh +3 more
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