ArticleJournal of movement disorders2023
A Brief History of NBIA Gene Discovery.
Article in Journal of movement disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 8 citations in OpenAlex.
- Introducing a novel variant in the FTH1 gene; A closer look at FTH1-related neuroferritinopathy as a neurodegeneration with brain iron accumulation (NBIA) disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Review
- Article
- Neurodegeneration with Brain Iron Accumulation.Advances in experimental medicine and biology · 2025Review
- Iron Dyshomeostasis in Neurodegeneration with Brain Iron Accumulation (NBIA): Is It the Cause or the Effect?Cells · 2024Review
- Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes.Cell death & disease · 2024Article
- COASY Protein-Associated Neurodegeneration: Report from India.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of 'NBIA' disorders or 'neurodegeneration with brain iron accumulation'. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here.
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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.