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
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.
Brown SM et al.
Annals of Clinical and Translational Neurology, 2024
SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients.
Lamadrid-González J et al.
Journal of Clinical Medicine, 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
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M et al.
European Journal of Pediatrics, 2022
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F et al.
Scientific Reports, 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
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Stabley DL et al.
Neurogenetics, 2021
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.
Auslander N et al.
Molecular Systems Biology, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model.
Sheng L et al.
Human Molecular Genetics, 2018
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