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Year Number of Results
2005 1
2007 1
2008 2
2010 2
2011 1
2012 3
2013 5
2014 5
2015 2
2016 6
2017 5
2018 6
2019 4
2020 5
2021 2
2022 3
2023 2
2024 3

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Page 1
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Dombi E, Marinaki T, Spingardi P, Millar V, Hadjichristou N, Carver J, Johnston IG, Fratter C, Poulton J. Dombi E, et al. Among authors: fratter c. Front Cell Dev Biol. 2024 Apr 2;12:1260496. doi: 10.3389/fcell.2024.1260496. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38665433 Free PMC article.
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.
Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV. Montague SJ, et al. Among authors: fratter c. J Thromb Haemost. 2024 Mar 15:S1538-7836(24)00127-2. doi: 10.1016/j.jtha.2024.02.021. Online ahead of print. J Thromb Haemost. 2024. PMID: 38492852
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: fratter c. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, Knowles CVY, Patel Y, Hodsdon P, Baines JP, Blakely EL, Polke J, Taylor RW, Fratter C. Mavraki E, et al. Among authors: fratter c. Eur J Hum Genet. 2023 Feb;31(2):148-163. doi: 10.1038/s41431-022-01249-w. Epub 2022 Dec 13. Eur J Hum Genet. 2023. PMID: 36513735 Free PMC article.
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy.
Shammas MK, Huang X, Wu BP, Fessler E, Song IY, Randolph NP, Li Y, Bleck CK, Springer DA, Fratter C, Barbosa IA, Powers AF, Quirós PM, Lopez-Otin C, Jae LT, Poulton J, Narendra DP. Shammas MK, et al. Among authors: fratter c. J Clin Invest. 2022 Jul 15;132(14):e157504. doi: 10.1172/JCI157504. J Clin Invest. 2022. PMID: 35700042 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: fratter c. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Meldau S, Fratter C, Bhengu LN, Sergeant K, Khan K, Riordan GT, Berman PAM. Meldau S, et al. Among authors: fratter c. Mol Genet Metab Rep. 2020 Jul 22;24:100629. doi: 10.1016/j.ymgmr.2020.100629. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32742935 Free PMC article.
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Among authors: fratter c. Nat Commun. 2020 Jul 22;11(1):3741. doi: 10.1038/s41467-020-17572-z. Nat Commun. 2020. PMID: 32699324 Free PMC article.
50 results