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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 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Among authors: muller s. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405
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.
Variability in hepatic expression of organic anion transporter 7/SLC22A9, a novel pravastatin uptake transporter: impact of genetic and regulatory factors.
Emami Riedmaier A, Burk O, van Eijck BA, Schaeffeler E, Klein K, Fehr S, Biskup S, Müller S, Winter S, Zanger UM, Schwab M, Nies AT. Emami Riedmaier A, et al. Among authors: muller s. Pharmacogenomics J. 2016 Aug;16(4):341-51. doi: 10.1038/tpj.2015.55. Epub 2015 Aug 4. Pharmacogenomics J. 2016. PMID: 26239079
Revised contraindications for the use of non-medical WB-electromyostimulation. Evidence-based German consensus recommendations.
von Stengel S, Fröhlich M, Ludwig O, Eifler C, Berger J, Kleinöder H, Micke F, Wegener B, Zinner C, Mooren FC, Teschler M, Filipovic A, Müller S, England K, Vatter J, Authenrieth S, Kohl M, Kemmler W. von Stengel S, et al. Among authors: muller s. Front Sports Act Living. 2024 Apr 16;6:1371723. doi: 10.3389/fspor.2024.1371723. eCollection 2024. Front Sports Act Living. 2024. PMID: 38689869 Free PMC article. Review.
Influence of COVID-19 on trust in routine immunization, health information sources and pandemic preparedness in 23 countries in 2023.
Lazarus JV, White TM, Wyka K, Ratzan SC, Rabin K, Larson HJ, Martinon-Torres F, Kuchar E, Abdool Karim SS, Giles-Vernick T, Müller S, Batista C, Myburgh N, Kampmann B, El-Mohandes A. Lazarus JV, et al. Among authors: muller s. Nat Med. 2024 Apr 29. doi: 10.1038/s41591-024-02939-2. Online ahead of print. Nat Med. 2024. PMID: 38684861
Effect of acyclovir therapy on the outcome of mechanically ventilated patients with lower respiratory tract infection and detection of herpes simplex virus in bronchoalveolar lavage: protocol for a multicentre, randomised controlled trial (HerpMV).
Hagel S, Brillinger N, Decker S, Deja M, Ertmer C, Fiedler S, Franken P, Heim M, Weigand MA, Zarbock A, Pletz MW; SepNet Critical Care Trials Group. Hagel S, et al. BMJ Open. 2024 Apr 25;14(4):e082512. doi: 10.1136/bmjopen-2023-082512. BMJ Open. 2024. PMID: 38670599 Free PMC article. Clinical Trial.
5,527 results