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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. Begemann A, et al. Among authors: schuler e. Genet Med. 2021 Mar;23(3):543-554. doi: 10.1038/s41436-020-01011-x. Epub 2020 Nov 5. Genet Med. 2021. PMID: 33149277 Free PMC article.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y. XiangWei W, et al. Among authors: schuler e. Brain. 2019 Oct 1;142(10):3009-3027. doi: 10.1093/brain/awz232. Brain. 2019. PMID: 31504254 Free PMC article.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. Schnabel F, et al. Among authors: schuler e. Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943452 Free PMC article.
Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections.
Martinez-Lizana E, Fauser S, Brandt A, Schuler E, Wiegand G, Doostkam S, San Antonio-Arce V, Jacobs J, Bast T, Shah M, Zentner J, Schulze-Bonhage A. Martinez-Lizana E, et al. Among authors: schuler e. Seizure. 2018 Nov;62:66-73. doi: 10.1016/j.seizure.2018.09.021. Epub 2018 Sep 26. Seizure. 2018. PMID: 30296740 Free article.
Atypical age distribution and high disease severity in children with RSV infections during two irregular epidemic seasons throughout the COVID-19 pandemic, Germany, 2021 to 2023.
Cai W, Köndgen S, Tolksdorf K, Dürrwald R, Schuler E, Biere B, Schweiger B, Goerlitz L, Haas W, Wolff T, Buda S, Reiche J. Cai W, et al. Among authors: schuler e. Euro Surveill. 2024 Mar;29(13):2300465. doi: 10.2807/1560-7917.ES.2024.29.13.2300465. Euro Surveill. 2024. PMID: 38551098 Free PMC article.
196 results