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109 results

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Page 1
Cardiolipin, Mitochondria, and Neurological Disease.
Falabella M, Vernon HJ, Hanna MG, Claypool SM, Pitceathly RDS. Falabella M, et al. Among authors: pitceathly rds. Trends Endocrinol Metab. 2021 Apr;32(4):224-237. doi: 10.1016/j.tem.2021.01.006. Epub 2021 Feb 24. Trends Endocrinol Metab. 2021. PMID: 33640250 Free PMC article. Review.
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Among authors: pitceathly rds. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Primary mitochondrial diseases.
Pizzamiglio C, Hanna MG, Pitceathly RDS. Pizzamiglio C, et al. Among authors: pitceathly rds. Handb Clin Neurol. 2024;204:53-76. doi: 10.1016/B978-0-323-99209-1.00004-1. Handb Clin Neurol. 2024. PMID: 39322395 Review.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Ng YS, et al. Among authors: pitceathly rds. Brain. 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. Brain. 2022. PMID: 34927673 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: pitceathly rds. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: pitceathly rds. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L. Harel T, et al. Among authors: pitceathly rds. Brain. 2024 Aug 1;147(8):2732-2744. doi: 10.1093/brain/awae160. Brain. 2024. PMID: 38753057
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.
Fernández-Vizarra E, López-Calcerrada S, Sierra-Magro A, Pérez-Pérez R, Formosa LE, Hock DH, Illescas M, Peñas A, Brischigliaro M, Ding S, Fearnley IM, Tzoulis C, Pitceathly RDS, Arenas J, Martín MA, Stroud DA, Zeviani M, Ryan MT, Ugalde C. Fernández-Vizarra E, et al. Among authors: pitceathly rds. Cell Metab. 2022 Nov 1;34(11):1792-1808.e6. doi: 10.1016/j.cmet.2022.09.005. Epub 2022 Oct 4. Cell Metab. 2022. PMID: 36198313 Free article.
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: pitceathly rds. Brain. 2025 Feb 3;148(2):647-662. doi: 10.1093/brain/awae268. Brain. 2025. PMID: 39279645 Free PMC article.
109 results