Associated Papers
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies.
Butchbach MER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature review.
Cook SL et al.
Neuromuscular Disorders : Nmd, 2026
Updates of spinal muscular atrophy in advanced therapies.
Weng WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy.
Rimoldi M et al.
Neurology. Genetics, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Becker B et al.
Journal of Neuromuscular Diseases, 2025
Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy.
Singh S et al.
Annals of Indian Academy of Neurology, 2025
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy.
Zwartkruis MM et al.
Iscience, 2025
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.
Brown SM et al.
Annals of Clinical and Translational Neurology, 2024
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Bai J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Abiusi E et al.
Neuromuscular Disorders : Nmd, 2024
The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review.
Dosi C et al.
Frontiers in Neurology, 2024
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
Milligan JN et al.
Genes, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Pérez L et al.
International Journal of Molecular Sciences, 2022
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F et al.
Scientific Reports, 2021
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Costa-Roger M et al.
International Journal of Molecular Sciences, 2021
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L et al.
Human Mutation, 2021
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.
Cuscó I et al.
Neurology. Genetics, 2020
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.
Tiziano FD et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020