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

Year Number of Results
1972 1
1975 1
1977 2
1979 2
1984 1
1985 1
1986 1
1987 3
1988 4
1992 2
1993 2
1994 1
1995 1
1996 1
1998 3
1999 7
2000 9
2001 11
2002 14
2003 8
2004 13
2005 7
2006 7
2007 7
2008 7
2009 8
2010 2
2011 6
2012 11
2013 17
2014 17
2015 21
2016 28
2017 17
2018 15
2019 16
2020 34
2021 28
2022 16
2023 20
2024 12
2025 10

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352 results

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Page 1
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: marquardt t. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
A highly virulent variant of HIV-1 circulating in the Netherlands.
Wymant C, Bezemer D, Blanquart F, Ferretti L, Gall A, Hall M, Golubchik T, Bakker M, Ong SH, Zhao L, Bonsall D, de Cesare M, MacIntyre-Cockett G, Abeler-Dörner L, Albert J, Bannert N, Fellay J, Grabowski MK, Gunsenheimer-Bartmeyer B, Günthard HF, Kivelä P, Kouyos RD, Laeyendecker O, Meyer L, Porter K, Ristola M, van Sighem A, Berkhout B, Kellam P, Cornelissen M, Reiss P, Fraser C; Netherlands ATHENA HIV Observational Cohort†; BEEHIVE Collaboration†. Wymant C, et al. Science. 2022 Feb 4;375(6580):540-545. doi: 10.1126/science.abk1688. Epub 2022 Feb 3. Science. 2022. PMID: 35113714 Free article.
Mannose supplementation in PMM2-CDG.
Taday R, Park JH, Grüneberg M, DuChesne I, Reunert J, Marquardt T. Taday R, et al. Among authors: marquardt t. Orphanet J Rare Dis. 2021 Aug 11;16(1):359. doi: 10.1186/s13023-021-01988-x. Orphanet J Rare Dis. 2021. PMID: 34380532 Free PMC article.
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D. Efthymiou S, et al. Among authors: marquardt t. Am J Hum Genet. 2025 May 1;112(5):1117-1138. doi: 10.1016/j.ajhg.2025.03.015. Epub 2025 Apr 16. Am J Hum Genet. 2025. PMID: 40245862 Free PMC article.
L-Fucose treatment of FUT8-CDG.
Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T. Park JH, et al. Among authors: marquardt t. Mol Genet Metab Rep. 2020 Dec 5;25:100680. doi: 10.1016/j.ymgmr.2020.100680. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33312876 Free PMC article.
Locally acquired respiratory diphtheria in Australia.
Smith S, Stewart J, Hanson J, Harris J, Chuang FJ, Quail G, Hawarden B, Lad R, McNee S, McCartney B, Marquardt T, Wilson I, Tacon C, Whitfield BC. Smith S, et al. Among authors: marquardt t. Med J Aust. 2023 Jun 5;218(10):446-448. doi: 10.5694/mja2.51938. Epub 2023 Apr 30. Med J Aust. 2023. PMID: 37121573 No abstract available.
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
Harkness JR, McDermott JH, Marsden S, Jamieson P, Metcalfe KA, Khan N, Macken WL, Pitceathly RDS, Record CJ, Maroofian R, Kleopa K, Christodoulou K, Sabir A, Islam L, Santra S, Durmusalioglu EA, Atik T, Isik E, Cogulu O, Urquhart JE, Beaman GM, Demain LA, Jackson A, Blakes AJM, Byers HJ, Bennett H, Lin WH, Adamson A, Patel S, Yue WW, Taylor RW, Reunert J, Marquardt T, Buchert R, Haack T, Losch H, Ryba L, Lassuthova P, Valkovičová R, Haberlová J, Lauerová B, Trúsiková E, Polavarapu K, Kilicarslan OA, Lochmüller H, Zamani M, Chamanrou N, Shariati G, Sadeghian S, Azizimalamiri R, Maddirevula S, AlMuhaizea M, Alkuraya FS, Horvath R, Gungor S, Manzur A, Munot P, Matthews R, Banka S, Reilly MM, Bennett D, O'Keefe RT, Newman WG. Harkness JR, et al. Among authors: marquardt t. Lancet Neurol. 2025 Aug;24(8):667-680. doi: 10.1016/S1474-4422(25)00198-X. Lancet Neurol. 2025. PMID: 40683276 Free article.
352 results