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

Year Number of Results
2002 5
2003 4
2004 10
2005 8
2006 8
2007 5
2008 8
2009 16
2010 13
2011 11
2012 18
2013 24
2014 38
2015 27
2016 36
2017 40
2018 34
2019 48
2020 44
2021 58
2022 44
2023 44
2024 50
2025 52
2026 28

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584 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Omega-3 world map: 2024 update.
Schuchardt JP, Beinhorn P, Hu XF, Chan HM, Roke K, Bernasconi A, Hahn A, Sala-Vila A, Stark KD, Harris WS. Schuchardt JP, et al. Among authors: hahn a. Prog Lipid Res. 2024 Jul;95:101286. doi: 10.1016/j.plipres.2024.101286. Epub 2024 Jun 13. Prog Lipid Res. 2024. PMID: 38879135 Free article. Review.
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: hahn a. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Among authors: hahn a. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: hahn a. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.
Wolf CM, Zenker M, Boleti O, Norrish G, Russell M, Meisner JK, Peng DM, Prendiville T, Kleinmahon J, Kantor PF, Gottlieb Sen D, Human DG, Ewert P, Krueger M, Reber D, Donner B, Hart C, Odri Komazec I, Rupp S, Hahn A, Hanser A, Hofbeck M, Draaisma JMT, Udink Ten Cate FEA, Mussa A, Ferrero GB, Vaujois L, Raboisson MJ, Delrue MA, Marquis C, Théoret Y, Bogarapu S, Dancea A, Handrup MM, Kemna M, Ojala T, Dham N, Dicke F, Friede T, Kaski JP, Gelb BD, Andelfinger G. Wolf CM, et al. Among authors: hahn a. JACC Basic Transl Sci. 2025 Feb;10(2):152-166. doi: 10.1016/j.jacbts.2024.10.002. Epub 2024 Dec 4. JACC Basic Transl Sci. 2025. PMID: 40131150 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. Among authors: hahn a. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Free PMC article. Clinical Trial.
584 results