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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: muller s. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG. Becker F, et al. Among authors: muller s. J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9. J Neurol. 2013. PMID: 23299620 Review.
[Nursing research in the SARS-CoV-2 pandemic in Germany: A scoping review].
Bauernschmidt D, Dichter MN, Horbach A, Meyer G, Müller M, Rahn AC, Möhler R. Bauernschmidt D, et al. Z Evid Fortbild Qual Gesundhwes. 2025 Jul 4:S1865-9217(25)00151-5. doi: 10.1016/j.zefq.2025.05.006. Online ahead of print. Z Evid Fortbild Qual Gesundhwes. 2025. PMID: 40617735 Review. German.
Single-cell RNA Sequencing Reveals the Role of Heat Shock Protein 90AA1 in Muller Cell Proliferation via the Necroptosis/MAPK Pathway in Diabetic Retinopathy.
Yan Y, Yang H, Wei Q, Yu D, Gao C, Diao B, Song Y, Chen X. Yan Y, et al. Exp Eye Res. 2025 Jul 3:110508. doi: 10.1016/j.exer.2025.110508. Online ahead of print. Exp Eye Res. 2025. PMID: 40617280
This study investigates the role of heat shock protein 90AA1 (HSP90AA1) in the proliferation of Muller cells (MCs) within the context of diabetic retinopathy (DR). Using single-cell RNA sequencing (scRNA-seq) on retinal samples from four diabetic and two nondiabetic patien …
This study investigates the role of heat shock protein 90AA1 (HSP90AA1) in the proliferation of Muller cells (MCs) within the context …
112,397 results
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