Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

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

14 citing papers in PubMed, 45 citations in OpenAlex.

1. Lysine 117 on ataxin-3 modulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3.Journal of the neurological sciences · 2023
   Article
2. Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.Molecular neurobiology · 2021
   Review
3. High relative frequency of SCA1 in Poland reflecting a potential founder effect.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016
   Article
4. Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.PloS one · 2015
   Article
5. Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117.The Journal of biological chemistry · 2010
   Article
6. Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3.The EMBO journal · 2009
   Article
7. Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.PloS one · 2008
   Article
8. SCA3: neurological features, pathogenesis and animal models.Cerebellum (London, England) · 2008
   Review
9. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.Journal of neurology, neurosurgery, and psychiatry · 2004
   Article
10. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.American journal of human genetics · 2001
    Article
11. Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.American journal of human genetics · 1999
    Article
12. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.American journal of human genetics · 1997
    Article
13. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.American journal of human genetics · 1997
    Article
14. Different origins of mutations at the Machado-Joseph locus (MJD1)Journal of medical genetics · 1996
    Article

Corrections and comments

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Authors and funding

9 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

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