SynthesisNeurobiology of aging2012
Chromosome 9 ALS and FTD locus is probably derived from a single founder.
Synthesis in Neurobiology of aging, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
69 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.Human mutation · 2013Pooled it
- Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature.Neuroepidemiology · 2013Pooled it
- Article
- Advances in sequencing technologies for amyotrophic lateral sclerosis research.Molecular neurodegeneration · 2023Review
- Expanding Clinical Spectrum ofNeurology. Genetics · 2022Review
- Article
- Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.Translational psychiatry · 2021Article
- Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing.PLoS genetics · 2021Article
- Neuroinflammation in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia and the Interest of Induced Pluripotent Stem Cells to Study Immune Cells Interactions With Neurons.Frontiers in molecular neuroscience · 2021Review
- Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population.Frontiers in neurology · 2021Article
- Article
- Distinct clinicopathologic clusters of persons with TDP-43 proteinopathy.Acta neuropathologica · 2020Article
- Electrical impedance myography (EIM) in a natural history study ofAmyotrophic lateral sclerosis & frontotemporal degeneration · 2020Article
- Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases.Acta neuropathologica communications · 2019Article
- C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.Acta neuropathologica · 2019Article
- Prospective natural history study ofNeurology · 2019Article
- C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis.Journal of the neurological sciences · 2019Article
- Recent advances in the genetics of frontotemporal dementia.Current genetic medicine reports · 2019Article
- The epidemiology and genetics of Amyotrophic lateral sclerosis in China.Brain research · 2018Review
- The Role of Sigma-1 Receptor, an Intracellular Chaperone in Neurodegenerative Diseases.Current neuropharmacology · 2018Review
9 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 20 institutions in 7 countries.
Funding
Abstract
We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations. Here we show that the associated haplotype is the same in all populations and that several families previously shown to have genetic linkage to this region also share this haplotype. The most parsimonious explanation of these data are that there is a single founder for this form of disease.
Indexed as
Identifiers
What OpenQuestion holds
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.