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Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.Brain : a Journal of Neurology|February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutationsP Yu-Wai-Man, P G Griffiths, G S Gorman, et al.Biorxiv : the Preprint Server for Biology|February 8, 2024
A Novel Pan-RAS Inhibitor with a Unique Mechanism of Action Blocks Tumor Growth in Mouse Models of GI CancerJeremy B Foote, Tyler E Mattox, Adam B Keeton, et al.Journal of Medical Genetics|April 1, 2018
Retrospective natural history of thymidine kinase 2 deficiencyCaterina Garone, Robert W Taylor, Andrés Nascimento, et al.Nature Communications|February 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological diseaseMonika Oláhová, Bradley Peter, Zsolt Szilagyi, et al.American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.Neurology|January 30, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional SurveyAlina Ivaniuk, Irina A Anselm, Aaron Bowen, et al.The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.Pageof 36