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Neuromuscular Disorders : NMD|November 5, 2021
Primary mitochondrial myopathies in childhoodCatarina Olimpio, May Yung Tiet, Rita HorvathEuropean Journal of Human Genetics : EJHG|May 9, 2025
Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic NeuropathyEszter Sara Arany, Catarina Olimpio, Ida Paramonov, et al.Journal of Neurology|March 29, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathiesTomas Ferreira, Kiran Polavarapu, Catarina Olimpio, et al.American Journal of Human Genetics|April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experienceThiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.European Journal of Human Genetics : EJHG|December 26, 2025
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohortThiloka E Ratnaike, M Eren Kule, Ida Paramonov, et al.Journal of Neuromuscular Diseases|May 17, 2024
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial DiseaseCatarina Olimpio, Ida Paramonov, Leslie Matalonga, et al.Frontiers in Neurology|December 18, 2023
Case report: Mutations in <i>DNAJC30</i> causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individualsToby Charles Major, Eszter Sara Arany, Katherine Schon, et al.Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.Pageof 1