Neuroimaging in mitochondrial disease.
Distelmaier F, Klopstock T.
Handb Clin Neurol. 2023;194:173-185. doi: 10.1016/B978-0-12-821751-1.00016-6.
Infantile mitochondrial encephalopathy.
Uziel G, Ghezzi D, Zeviani M.
Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26.
Mitochondrial disease and epilepsy.
Kang HC, Lee YM, Kim HD.
Brain Dev. 2013 Sep;35(8):757-61. doi: 10.1016/j.braindev.2013.01.006. Epub 2013 Feb 13.
Mitochondrial encephalopathy.
Longo N.
Neurol Clin. 2003 Nov;21(4):817-31. doi: 10.1016/s0733-8619(03)00015-x.
Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.
Na JH, Lee YM.
Biomolecules. 2024 Nov 28;14(12):1524. doi: 10.3390/biom14121524.
Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.
Ferreira F, Gonçalves Bacelar C, Lisboa-Gonçalves P, Paulo N, Quental R, Nunes AT, Silva R, Tavares I.
Nefrologia (Engl Ed). 2023 Dec;43 Suppl 2:1-7. doi: 10.1016/j.nefroe.2024.01.017.
l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review.
Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS.
Neurology. 2022 Jun 7;98(23):e2318-e2328. doi: 10.1212/WNL.0000000000200299. Epub 2022 Apr 15.
Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.
Dunn PJ, Harvey NR, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR.
Mol Neurobiol. 2022 Sep;59(9):5366-5378. doi: 10.1007/s12035-022-02914-3. Epub 2022 Jun 14.
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, de Groot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J.
J Inherit Metab Dis. 2018 Nov;41(6):1267-1273. doi: 10.1007/s10545-018-0229-5. Epub 2018 Jul 19.
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.
Patel R, Coulter LL, Rimmer J, Parkes M, Chinnery PF, Swift O.
BMC Gastroenterol. 2019 Jan 15;19(1):11. doi: 10.1186/s12876-018-0925-5.
