Associated Papers
In Search of Spinal Muscular Atrophy Disease Modifiers.
Chudakova D et al.
International Journal of Molecular Sciences, 2024
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Qu Y et al.
Heliyon, 2024
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.
Ibrahim F et al.
Molecular Genetics & Genomic Medicine, 2023
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G et al.
Neurology, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Chen X et al.
American Journal of Human Genetics, 2023
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Bowen BM et al.
Frontiers in Neurology, 2021
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
Kekou K et al.
Journal of Neuromuscular Diseases, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
Medrano S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.
Qu YJ et al.
European Journal of Human Genetics : Ejhg, 2016
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
Rudnik-Schöneborn S et al.
Neuromuscular Disorders : Nmd, 2016
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.
Zaworski P et al.
Plos One, 2016
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
Vezain M et al.
Human Mutation, 2011
[Application of real-time PCR analysis of the SMN1gene in the carrier testing of spinal muscular atrophy].
Lu LP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007
[Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage].
Saito M et al.
No to Hattatsu = Brain and Development, 2005