Spinal muscular atrophy: mutations, testing, and clinical relevance
MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …
[HTML][HTML] Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics …
MER Butchbach - International Journal of Molecular Sciences, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is a leading genetic cause of infant death worldwide that is
characterized by loss of spinal motor neurons leading to muscle weakness and atrophy …
characterized by loss of spinal motor neurons leading to muscle weakness and atrophy …
Base editing rescue of spinal muscular atrophy in cells and in mice
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …
[PDF][PDF] Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Spinal muscular atrophy, a leading cause of early infant death, is caused by bi-allelic
mutations of SMN1. Sequence analysis of SMN1 is challenging due to high sequence …
mutations of SMN1. Sequence analysis of SMN1 is challenging due to high sequence …
[HTML][HTML] Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
X Chen, A Sanchis-Juan, CE French, AJ Connell… - Genetics in …, 2020 - nature.com
Purpose Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading
cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2 …
cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2 …
[HTML][HTML] Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
I Bitetti, V Lanzara, G Margiotta, A Varone - Gene Therapy, 2023 - nature.com
Spinal muscular atrophy (SMA) is a genetically inherited recessive neuromuscular disease
that causes muscular atrophy and weakness. Onasemnogene abeparvovec (formerly AVXS …
that causes muscular atrophy and weakness. Onasemnogene abeparvovec (formerly AVXS …
[HTML][HTML] Comprehensive analysis of spinal muscular atrophy: SMN1 copy number, intragenic mutation, and 2+ 0 carrier analysis by third-generation sequencing
S Li, X Han, Y Xu, C Chang, L Gao, J Li, Y Lu… - The Journal of Molecular …, 2022 - Elsevier
Population-wide carrier screening for spinal muscular atrophy (SMA) is recommended by
the American College of Medical Genetics and Genomics. However, the methods used …
the American College of Medical Genetics and Genomics. However, the methods used …
[HTML][HTML] Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy
Recent unprecedented advances in treatment for spinal muscular atrophy (SMA) enabled
patients to access the first approved disease modifying therapy for the condition. There are …
patients to access the first approved disease modifying therapy for the condition. There are …
244th ENMC international workshop: newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands
A total of 19 participants including clinicians, newborn screening specialists, economists,
geneticists, patients and patient advocates, and industry representatives from 12 countries …
geneticists, patients and patient advocates, and industry representatives from 12 countries …
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
I Cuscó, S Bernal, L Blasco-Pérez, M Calucho… - Neurology …, 2020 - AAN Enterprises
Objective Assessment of SMN2 copy number in patients with spinal muscular atrophy (SMA)
is essential to establish careful genotype-phenotype correlations and predict disease …
is essential to establish careful genotype-phenotype correlations and predict disease …