ArticleJournal of medical genetics1996
Gene deletions in spinal muscular atrophy.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.Orphanet journal of rare diseases · 2025Observational
- ComplexNeurology. Genetics · 2024Article
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
- Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.Genes · 2023Observational
- Review
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- Genetic findings of Cypriot spinal muscular atrophy patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.Advanced biomedical research · 2014Article
- Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.Journal of neurodegenerative diseases · 2013Article
- Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients.Journal of neurology · 2005Article
- Spinal muscular atrophy: untangling the knot?Journal of medical genetics · 1999Review
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.American journal of human genetics · 1998Article
- Molecular diagnosis of spinal muscular atrophy.Archives of disease in childhood · 1998Article
- When is a deletion not a deletion? When it is converted.American journal of human genetics · 1997Review
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.American journal of human genetics · 1997Article
- Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.American journal of human genetics · 1996Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.Journal of inherited metabolic disease · 1996Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA). Although affected subjects show deletions of these genes, these deletions can lead to either a very mild or a severe phenotype. We have analysed a large number of clinically well defined patients, carriers, and normal controls to assess the frequency and extent of deletions encompassing both of these genes. A genotype analysis indicates that more extensive deletions are seen in the severe form of SMA than in the milder forms. In addition, 1 center dot 9% of phenotypically normal carriers are deleted for the NAIP gene; no carriers were deleted for the SMN gene. Our data suggest that deletions in both of these genes, using the currently available assays, are associated with both a severe and very mild phenotype.
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