Associated Papers
Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.
Xu C et al.
Orphanet Journal of Rare Diseases, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Alternative start codon selection shapes mitochondrial function and rare human diseases.
Ly J et al.
Molecular Cell, 2025
41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › ClinVar_testedisoforms
Phenotypic diversity in NAXE mutations.
Solmaz I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Alternative start codon selection shapes mitochondrial function during evolution, homeostasis, and disease.
Ly J et al.
Biorxiv : the Preprint Server for Biology, 2025
40196624 (PubMed )
Supplement: media-5.xlsx › ClinVar_testedisoforms
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L et al.
Neurology. Genetics, 2021
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