ArticleHuman genetics1994
Linkage mapping of the spinal muscular atrophy gene.
Article in Human genetics, 1994. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 41 citations in OpenAlex.
- What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.International journal of molecular sciences · 2021Article
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy.Brain sciences · 2021Review
- Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.Human genetics · 2019Article
- Purinergic Receptors in Neurological Diseases With Motor Symptoms: Targets for Therapy.Frontiers in pharmacology · 2018Review
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- Spinal muscular atrophy: diagnosis and management in a new therapeutic era.Muscle & nerve · 2015Review
- Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.PloS one · 2015Article
- Spinal muscular atrophy: development and implementation of potential treatments.Annals of neurology · 2013Review
- Article
- Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.PloS one · 2012Article
- A positive modifier of spinal muscular atrophy in the SMN2 gene.American journal of human genetics · 2009Article
- Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.American journal of human genetics · 1998Article
- When is a deletion not a deletion? When it is converted.American journal of human genetics · 1997Review
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.American journal of human genetics · 1997Article
- Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.Journal of medical genetics · 1995Article
- Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.American journal of human genetics · 1994Article
- Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.American journal of human genetics · 1994Article
- Phosphatase and tensin homologue: a therapeutic target for SMA.Signal transduction and targeted therapyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at theta = O excluding two unlinked families, and Zmax = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closet centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.
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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.