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

Year Number of Results
1993 2
2002 1
2003 2
2004 1
2005 2
2006 2
2007 2
2008 1
2009 5
2010 4
2011 4
2012 13
2013 20
2014 10
2015 18
2016 12
2017 13
2018 12
2019 15
2020 16
2021 15
2022 8
2023 14
2024 6

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166 results

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Page 1
Mitochondrial DNA-Associated Leigh Syndrome Spectrum.
Ball M, Thorburn DR, Rahman S. Ball M, et al. Among authors: rahman s. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301352 Free Books & Documents. Review.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: rahman s. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Online ahead of print. Eur J Neurol. 2024. PMID: 38576261
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: rahman s. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Gene therapy for mitochondrial disorders.
Keshavan N, Minczuk M, Viscomi C, Rahman S. Keshavan N, et al. Among authors: rahman s. J Inherit Metab Dis. 2024 Jan;47(1):145-175. doi: 10.1002/jimd.12699. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171948 Review.
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: rahman s. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.
Diodato D, Schiff M, Cohen BH, Bertini E, Rahman S; Workshop participants. Diodato D, et al. Among authors: rahman s. Neuromuscul Disord. 2023 Aug;33(8):700-709. doi: 10.1016/j.nmd.2023.06.002. Epub 2023 Jun 15. Neuromuscul Disord. 2023. PMID: 37541860 No abstract available.
Risk and potential of ChatGPT in scientific publishing.
Peters V, Baumgartner M, Froese S, Morava E, Patterson M, Zschocke J, Rahman S. Peters V, et al. Among authors: rahman s. J Inherit Metab Dis. 2023 Nov;46(6):1005-1006. doi: 10.1002/jimd.12666. Epub 2023 Aug 17. J Inherit Metab Dis. 2023. PMID: 37534774 No abstract available.
166 results