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Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Antonicka H, Weraarpachai W, Szigety KM, Kopajtich R, Gibson JB, Van Hove JLK, Friederich MW, Lopriore P, Neuhofer C, Van Hove RA, Cole MA, Reisdorph R, Peterson JT, Dempsey KJ, Ganetzky RD, Mancuso M, Prokisch H, Shoubridge EA. Antonicka H, et al. Among authors: lopriore p. Am J Hum Genet. 2025 Jul 3;112(7):1699-1710. doi: 10.1016/j.ajhg.2025.05.007. Epub 2025 Jun 10. Am J Hum Genet. 2025. PMID: 40499538
280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024.
Mancuso M, Lopriore P, Semmler L, Kornblum C; 280th ENMC workshop study group. Mancuso M, et al. Among authors: lopriore p. Neuromuscul Disord. 2025 May;50:105340. doi: 10.1016/j.nmd.2025.105340. Epub 2025 Mar 22. Neuromuscul Disord. 2025. PMID: 40273815 Free article.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S; as the Hong Kong Mitochondrial Diseases Interest Group; Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL. Ivaniuk A, et al. Among authors: lopriore p. Neurology. 2025 Feb 25;104(4):e209779. doi: 10.1212/WNL.0000000000209779. Epub 2025 Jan 30. Neurology. 2025. PMID: 39883904
Diagnosis of hereditary ataxias: a real-world single center experience.
Meli A, Montano V, Palermo G, Fogli A, Rocchi A, Gerfo AL, Maltomini R, Cori L, Siniscalchi A, Bernardini C, Cecchi G, Siciliano G, Ceravolo R, Caligo MA, Mancuso M, Lopriore P. Meli A, et al. Among authors: lopriore p. J Neurol. 2025 Jan 15;272(2):111. doi: 10.1007/s00415-024-12772-9. J Neurol. 2025. PMID: 39812846
23 results