ArticleThe Journal of molecular diagnostics : JMD2002
Spinal muscular atrophy genetic testing experience at an academic medical center.
Article in The Journal of molecular diagnostics : JMD, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 43 citations in OpenAlex.
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.BMC medical genomics · 2026Article
- Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence.The Journal of international medical research · 2025Review
- CRISPR/Cas9-TargetedJournal of developmental biology · 2025Article
- MicroRNAs as Biomarkers in Spinal Muscular Atrophy.Biomedicines · 2024Review
- Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.Molecular genetics & genomic medicine · 2023Article
- Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.European journal of neurology · 2022Article
- Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1.Advances in therapy · 2019Article
- Dysregulation of microRNA metabolism in motor neuron diseases: Novel biomarkers and potential therapeutics.Non-coding RNA research · 2019Review
- Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.Molecular genetics & genomic medicine · 2018Article
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Orphanet journal of rare diseases · 2017Review
- Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.Journal of genetic counseling · 2016Article
- Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease.Iranian journal of child neurology · 2016Article
- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.European journal of human genetics : EJHG · 2012Article
- Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.The Journal of molecular diagnostics : JMD · 2011Article
- Differences in SMN1 allele frequencies among ethnic groups within North America.Journal of medical genetics · 2009Article
- Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.Journal of neurology · 2005Article
- Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis.The Journal of molecular diagnostics : JMD · 2002Article
- SMN dosage analysis and risk assessment for spinal muscular atrophy.American journal of human genetics · 2002Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families), SMA diagnostic testing by PCR-RFLP (restriction fragment length polymorphism) to detect the homozygous absence of SMN1 exon 7 (and exon 8) (533 cases), and an assay to determine copy number of SMN1 exon 7 (SMN1 gene dosage analysis) (716 cases). SMN1 gene dosage analysis is used for SMA carrier testing as well as for the confirmation of a heterozygous SMN1 deletion in symptomatic individuals who do not lack both copies of SMN1. We conclude that comprehensive SMA testing, including SMN1 deletion analysis, SMN1 gene dosage analysis, and linkage analysis, offers the most complete evaluation of SMA patients and their families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.