Ries M - Search Results

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

2

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. Zielonka M, et al. Among authors: ries m. Genet Med. 2018 Apr;20(5):524-530. doi: 10.1038/gim.2017.133. Epub 2017 Oct 19. Genet Med. 2018. PMID: 29048419 Free article.

3

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. Zielonka M, et al. Among authors: ries m. Genet Med. 2019 Feb;21(2):347-352. doi: 10.1038/s41436-018-0051-3. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875421 Free article.

4

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M. Sláma T, et al. Among authors: ries m. J Inherit Metab Dis. 2019 Mar;42(2):295-302. doi: 10.1002/jimd.12010. Epub 2019 Jan 28. J Inherit Metab Dis. 2019. PMID: 30693535

5

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. Zielonka M, et al. Among authors: ries m. J Inherit Metab Dis. 2019 Sep;42(5):975-983. doi: 10.1002/jimd.12138. Epub 2019 Jul 24. J Inherit Metab Dis. 2019. PMID: 31222755

6

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Schröter J, Döring JH, Garbade SF, Hoffmann GF, Kölker S, Ries M, Syrbe S. Schröter J, et al. Among authors: ries m. Genet Med. 2021 Mar;23(3):516-523. doi: 10.1038/s41436-020-01001-z. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082561 Free PMC article.

7

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.

8

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. Zielonka M, et al. Among authors: ries m. Genet Med. 2017 Sep;19(9):983-988. doi: 10.1038/gim.2017.10. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383542 Free article.

9

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.

Mechler K, Mountford WK, Hoffmann GF, Ries M. Mechler K, et al. Among authors: ries m. Genet Med. 2015 Dec;17(12):965-70. doi: 10.1038/gim.2015.12. Epub 2015 Mar 12. Genet Med. 2015. PMID: 25764214 Free article.

10

Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis.

Breil T, Boettcher M, Hoffmann GF, Ries M. Breil T, et al. Among authors: ries m. BMJ Open. 2018 Jul 16;8(7):e021684. doi: 10.1136/bmjopen-2018-021684. BMJ Open. 2018. PMID: 30012791 Free PMC article.

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