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
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening.
Pitarch-Castellano I et al.
Children (basel, Switzerland), 2025
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.
Ambrosio A et al.
International Journal of Neonatal Screening, 2025
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.
Chakraborty S et al.
American Journal of Medical Genetics. Part A, 2025
A Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.
Hall B et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy.
Zwartkruis MM et al.
Iscience, 2025
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Berzal-Serrano A et al.
International Journal of Neonatal Screening, 2025
Spinal muscular atrophy in the era of newborn screening: how the classification could change.
Varone A et al.
Frontiers in Neurology, 2025
SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients.
Lamadrid-González J et al.
Journal of Clinical Medicine, 2024
MicroRNAs as Biomarkers in Spinal Muscular Atrophy.
Barbo M et al.
Biomedicines, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Costa-Roger M et al.
Neurology. Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Pane M et al.
European Journal of Pediatrics, 2024
Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.
Nawn D et al.
International Journal of Biological Macromolecules, 2024
Subclinical spinal muscular atrophy in a 60-year-old man.
Palma S et al.
Neuromuscular Disorders : Nmd, 2024
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.
Li L et al.
Neuromuscular Disorders : Nmd, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 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
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.
Aasdev A et al.
Journal of Biosciences, 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
Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature.
Yang H et al.
Frontiers in Pediatrics, 2024
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M et al.
Annals of Neurology, 2023
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
Angilletta I et al.
International Journal of Molecular Sciences, 2023
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Fay A
Pediatric Clinics of North America, 2023
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E et al.
Journal of Medical Genetics, 2023
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.
Nadal M et al.
Protein Science : a Publication of the Protein Society, 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
Childhood spinal muscular atrophy.
Younger DS et al.
Handbook of Clinical Neurology, 2023
Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies.
Chiriboga CA
Paediatric Drugs, 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
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
Pane M et al.
European Journal of Pediatrics, 2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Strauss KA et al.
Nature Medicine, 2022
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Wang J et al.
Human Molecular Genetics, 2022
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy.
Belter L et al.
Plos One, 2022
Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy.
Baranello G et al.
Clinical Pharmacology and Therapeutics, 2021
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F et al.
Scientific Reports, 2021
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.
Thomsen G et al.
Nature Medicine, 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
What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
Blatnik AJ et al.
International Journal of Molecular Sciences, 2021
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
Butchbach MER
International Journal of Molecular Sciences, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
McMillan HJ et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021