Research graph
References from Clinical Practice of Single‐Molecule Real‐Time Sequencing in the Diagnosis of Spinal Muscular Atrophy. Local targets link to admitted publications; unresolved targets remain external evidence.
A High‐Fidelity Long‐Read Sequencing‐Based Approach Enables Accurate and Effective Genetic Diagnosis of Spinal Muscular Atrophy
10.1016/j.cca.2023.117743 · 2023 · External reference
Decay in Survival Motor Neuron and Plastin 3 Levels During Differentiation of iPSC‐Derived Human Motor Neurons
10.1038/srep11696 · 2015 · External reference
Unresolved reference
2025 · External reference
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
10.3389/fmolb.2016.00007 · 2016 · External reference
Correlation Between SMA Type and SMN2 Copy Number Revisited: An Analysis of 625 Unrelated Spanish Patients and a Compilation of 2834 Reported Cases
10.1016/j.nmd.2018.01.003 · 2018 · External reference
Prevalence of SMN1 Deletion and Duplication in Carrier and Normal Populations: Implication for Genetic Counselling
10.1136/jmg.40.4.e39 · 2003 · External reference
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
10.3389/fneur.2024.1308296 · 2024 · External reference
Quantitative Analyses of SMN1 and SMN2 Based on Real‐Time lightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
10.1086/338627 · 2002 · External reference
Differences in SMN1 Allele Frequencies Among Ethnic Groups Within North America
10.1136/jmg.2009.066969 · 2009 · External reference
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
10.2147/tacg.s239603 · 2021 · External reference
The Prevalence of Spinal Muscular Atrophy Carrier in China: Evidences From Epidemiological Surveys
10.1097/md.0000000000018975 · 2020 · External reference
Evaluation and Comparison of Three Assays for Molecular Detection of Spinal Muscular Atrophy
2017 · External reference
Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third‐Generation Sequencing
10.1016/j.jmoldx.2022.05.001 · 2022 · External reference
Evaluating the Clinical Efficacy of a Long‐Read Sequencing‐Based Approach for Carrier Screening of Spinal Muscular Atrophy
10.1186/s40246-024-00676-8 · 2024 · External reference
A Single Nucleotide in the SMN Gene Regulates Splicing and Is Responsible for Spinal Muscular Atrophy
10.1073/pnas.96.11.6307 · 1999 · External reference
Hybrids Monosomal for Human Chromosome 5 Reveal the Presence of a Spinal Muscular Atrophy (SMA) Carrier With Two SMN1 Copies on One Chromosome
10.1007/s004390000446 · 2001 · External reference
Childhood Spinal Muscular Atrophy: Controversies and Challenges
10.1016/s1474-4422(12)70061-3 · 2012 · External reference
Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care
10.1016/j.nmd.2017.11.005 · 2018 · External reference
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy
10.1016/j.jmoldx.2016.05.004 · 2016 · External reference
Population Screening and Cascade Testing for Carriers of SMA
10.1038/sj.ejhg.5201821 · 2007 · External reference
A Multi‐Source Approach to Determine SMA Incidence and Research Ready Population
10.1007/s00415-017-8549-1 · 2017 · External reference
How Genetic Modifiers Influence the Phenotype of Spinal Muscular Atrophy and Suggest Future Therapeutic Approaches
10.1016/j.gde.2013.03.003 · 2013 · External reference
Carrier Screening for Spinal Muscular Atrophy in 22913 Chinese Reproductive Age Women
10.1002/mgg3.2359 · 2024 · External reference
