Associated Papers
Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.
Codina-Solà M et al.
Prenatal Diagnosis, 2026
Lymphoid Organ Architecture and Hematopoiesis Disruption in Spinal Muscular Atrophy: Therapeutic Rescue by SMN Restoration.
Guillamón P et al.
International Journal of Molecular Sciences, 2026
Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Mak CM et al.
International Journal of Neonatal Screening, 2025
Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells.
Yücedal D et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 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
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.
Kato T et al.
Orphanet Journal of Rare Diseases, 2025
Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.
Lu J et al.
Molecular Genetics & Genomic Medicine, 2025
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Gao S et al.
Orphanet Journal of Rare Diseases, 2025
Spinal muscular atrophy in the era of newborn screening: how the classification could change.
Varone A et al.
Frontiers in Neurology, 2025
Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.
Xing X et al.
The Analyst, 2024
Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population.
Khanbazi A et al.
Scientific Reports, 2024
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review.
Chi Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.
Bzdok J et al.
Genes, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
In Search of Spinal Muscular Atrophy Disease Modifiers.
Chudakova D et al.
International Journal of Molecular Sciences, 2024
Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy.
Long J et al.
Human Genomics, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Costa-Roger M et al.
Neurology. Genetics, 2024
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.
Akhkiamova M et al.
Genes, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E et al.
American Journal of Human Genetics, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.
Wang N et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Qu Y et al.
Heliyon, 2024
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
Yao M et al.
Bmc Neurology, 2024
Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg.
Kiselev A et al.
International Journal of Neonatal Screening, 2024
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E et al.
Arquivos De Neuro-psiquiatria, 2024
Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.
Zhou BB et al.
Frontiers in Neurology, 2024
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 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
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Kubar A et al.
Molecular Genetics & Genomic Medicine, 2023
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
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Fay A
Pediatric Clinics of North America, 2023
Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.
Hussain N et al.
European Review for Medical and Pharmacological Sciences, 2023
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Davidson JE et al.
Genes, 2023
Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene.
Zeng W et al.
Stem Cell Research, 2023
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.
Bai J et al.
Neuromuscular Disorders : Nmd, 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
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain M et al.
Human Genetics, 2023
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Tesorero R et al.
Plos One, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S et al.
Journal of Neuromuscular Diseases, 2023
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
Votsi C et al.
Frontiers in Neurology, 2023
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
Milligan JN et al.
Genes, 2022
Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy.
López-Cortés A et al.
Biology, 2022