ArticleAmerican journal of human genetics1997
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 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
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.
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Who cites it
45 citing papers in PubMed.
- Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.Cerebellum (London, England) · 2013Trial
- Impaired Glur2 palmitoylation in cerebellar Purkinje cells of a Friedreich ataxia mouse model.Experimental neurology · 2026Article
- Neuropathology of Friedreich ataxia and its links to metabolic pathways.Neurodegenerative disease management · 2026Review
- Anti-gene oligonucleotides targeting Friedreich's ataxia expanded GAA⋅TTC repeats increase Frataxin expression.Molecular therapy. Nucleic acids · 2025Article
- Friedreich ataxia: what can we learn from non-GAA repeat mutations?Neurodegenerative disease management · 2025Review
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.Disease models & mechanisms · 2023Article
- Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.Neurobiology of disease · 2023Article
- DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.Scientific reports · 2022Article
- Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.Biomedicines · 2022Review
- A non-synonymous single nucleotide polymorphism inFrontiers in molecular biosciences · 2022Article
- Review
- 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
- The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.Neurogenetics · 2020Article
- Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Identification of a novel missense mutation in Friedreich's ataxia -FXNAnnals of clinical and translational neurology · 2019Article
- Selected missense mutations impair frataxin processing in Friedreich ataxia.Annals of clinical and translational neurology · 2017Article
- Frataxin levels in peripheral tissue in Friedreich ataxia.Annals of clinical and translational neurology · 2015Article
- Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.Bioanalysis · 2015Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
9150176PMC1712428What 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.