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Page 1
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: schroter j. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. doi: 10.1002/jimd.12653. Epub 2023 Jul 23. J Inherit Metab Dis. 2023. PMID: 37429829
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: schroter j. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: schroter j. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A. Schuurmans IME, et al. Among authors: schroter j. J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16. J Inherit Metab Dis. 2023. PMID: 37020324
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H. Schröter J, et al. Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36789265 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: schroter j. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Klabunde-Cherwon A, Kluger G, Muhle H, Pendziwiat M, Møller RS, Platzer K, Santos JL, Schröter J, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: schroter j. Neurol Genet. 2022 Sep 28;8(5):e200020. doi: 10.1212/NXG.0000000000200020. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36187725 Free PMC article.
76 results