- Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case.
- Jackson M, Morrison KE, Al-Chalabi A, Bakker M, Leigh PN.SourceNeurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
- Annals of neurology.Ann Neurol.1996 Jun;39(6):796-800.
- Although defects in the gene encoding the enzyme cytosolic copper/zinc superoxide dismutase (SOD1) have been reported in 20% of familial amyotrophic lateral sclerosis (ALS) patients, the etiology of the remaining familial cases and the more common sporadic form of the disease remains unknown. Recent
- PMID 8651652
- Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
- Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J.SourceUnité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France.
- Journal of medical genetics.J Med Genet.1996 Apr;33(4):281-3.
- Spinal muscular atrophy (SMA) is characterised by degeneration of anterior horn cells of the spinal cord and represents the second most common, lethal, autosomal recessive disorder after cystic fibrosis. Based on the criteria of the Internatinal SMA Consortium, childhood SMAs are classified into typ
- PMID 8730281
- Correlation of Ag1-CA genotype with deletion of the XS2G3/NAIP genes indicates that most patients with a deletion have a 1,1 genotype. Owing to the physical proximity of these markers, we propose that a large deletion occurs on type I SMA ...
- A second gene, XS2G3, or the highly homologous neuronal apoptosis inhibitory protein gene (NAIP) have been found to be more frequently deleted in type I than in the milder forms (types II and III). We investigated the correlation between the ...