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

Year Number of Results
2002 2
2003 1
2004 1
2005 7
2006 8
2007 4
2008 4
2009 2
2010 1
2011 2
2012 2
2013 3
2014 1
2015 6
2016 8
2017 8
2018 6
2019 6
2020 9
2021 10
2022 7
2023 3
2024 0

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89 results

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Page 1
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Among authors: ries m. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Fabry Disease: A Disorder of Childhood Onset.
Schiffmann R, Ries M. Schiffmann R, et al. Among authors: ries m. Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29. Pediatr Neurol. 2016. PMID: 27555236 Review.
Quantitative retrospective natural history modeling for orphan drug development.
Garbade SF, Zielonka M, Komatsuzaki S, Kölker S, Hoffmann GF, Hinderhofer K, Mountford WK, Mengel E, Sláma T, Mechler K, Ries M. Garbade SF, et al. Among authors: ries m. J Inherit Metab Dis. 2021 Jan;44(1):99-109. doi: 10.1002/jimd.12304. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32845020 Review.
Pediatric Fabry disease.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Ries M, et al. Pediatrics. 2005 Mar;115(3):e344-55. doi: 10.1542/peds.2004-1678. Epub 2005 Feb 15. Pediatrics. 2005. PMID: 15713906
Cardiac involvement in Anderson-Fabry disease.
Kampmann C, Baehner F, Ries M, Beck M. Kampmann C, et al. Among authors: ries m. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S147-9. J Am Soc Nephrol. 2002. PMID: 12068028 Review. No abstract available.
Orphan drug development in alpha-1 antitypsin deficiency.
Trudzinski FC, Presotto MA, Buck E, Herth FJF, Ries M. Trudzinski FC, et al. Among authors: ries m. Sci Rep. 2022 Sep 15;12(1):15497. doi: 10.1038/s41598-022-19707-2. Sci Rep. 2022. PMID: 36109566 Free PMC article.
Genotype–phenotype correlation in Fabry disease.
Ries M, Gal A. Ries M, et al. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 34. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 34. PMID: 21290681 Free Books & Documents. Review.
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A, Schröter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D, Hoffmann GF, Kölker S, Ries M, Syrbe S. Saffari A, et al. Among authors: ries m. Autophagy. 2022 Jul;18(7):1715-1727. doi: 10.1080/15548627.2021.1990671. Epub 2021 Nov 24. Autophagy. 2022. PMID: 34818117 Free PMC article.
89 results