ArticleAnnals of clinical and translational neurology2019
Identification of a novel missense mutation in Friedreich's ataxia -FXN
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
The trial behind it
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Frataxin: from the sequence to the biological role.Biophysical reviews · 2025Review
- An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.International journal of molecular sciences · 2024Article
- Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.Annals of clinical and translational neurology · 2024Article
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.Scientific reports · 2020Article
- Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.Disease models & mechanisms · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, we find that frataxin
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Registered trials
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