Associated Papers
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models.
Lavorato M et al.
Jci Insight, 2022
35881484 (PubMed )
Supplement: jciinsight-7-156346-s236.pdf
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
Ballout RA et al.
Frontiers in Genetics, 2019
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW et al.
Human Mutation, 2017
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
Morton SU et al.
Jimd Reports, 2017
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X et al.
American Journal of Human Genetics, 2013
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