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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1986 1
1987 1
1988 1
1989 1
1990 3
1991 1
1992 2
1993 7
1995 3
1996 2
1997 10
1998 7
1999 6
2000 10
2001 10
2002 8
2003 15
2004 15
2005 12
2006 12
2007 10
2008 20
2009 16
2010 17
2011 16
2012 16
2013 29
2014 31
2015 24
2016 26
2017 18
2018 5
2019 4
2020 5
2021 1
2022 2
2024 0

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PubMed (Bookshelf cited) for id: 44095

323 results

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Page 1
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Oktay Y, et al. J Neuromuscul Dis. 2020;7(3):301-308. doi: 10.3233/JND-200510. J Neuromuscul Dis. 2020. PMID: 32444556 Free PMC article.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Friederich MW, et al. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15. J Inherit Metab Dis. 2020. PMID: 32160317 Free PMC article.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ, Mancuso M. De Vries MC, et al. J Inherit Metab Dis. 2020 Jul;43(4):800-818. doi: 10.1002/jimd.12196. Epub 2020 Feb 7. J Inherit Metab Dis. 2020. PMID: 32030781 Free PMC article.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, et al. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PLoS One. 2019. PMID: 31479473 Free PMC article.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Hayhurst H, et al. Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911575 Free PMC article.
323 results