ArticleAmerican journal of human genetics2000
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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.
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Who cites it
15 citing papers in PubMed, 80 citations in OpenAlex.
- Tubular ER dysfunction in neurodegenerative diseases.Neurobiology of disease · 2025Review
- New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.Annals of clinical and translational neurology · 2022Article
- Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.International journal of molecular sciences · 2019Review
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.Human genetics · 2015Review
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.The Journal of clinical investigation · 2012Article
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.Human genetics · 2007Article
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Neurogenetics · 2004Article
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.Journal of medical genetics · 2003Review
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.American journal of human genetics · 2002Article
- The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Journal of neurology, neurosurgery, and psychiatry · 2002Article
- The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.American journal of human genetics · 2001Article
- Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.American journal of human genetics · 2001Article
- A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.
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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.