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261 results

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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Among authors: biskup s. Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749476 Free PMC article.
D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.
Synofzik M, Hagen JM, Biskup S, Schöls L. Synofzik M, et al. Among authors: biskup s. Amyotroph Lateral Scler. 2012 May;13(3):326-7. doi: 10.3109/17482968.2012.656312. Epub 2012 Mar 13. Amyotroph Lateral Scler. 2012. PMID: 22409356 No abstract available.
GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?
Pilotto A, Schulte C, Hauser AK, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg D. Pilotto A, et al. Among authors: biskup s. Eur J Neurol. 2016 Mar;23(3):520-6. doi: 10.1111/ene.12894. Epub 2015 Nov 9. Eur J Neurol. 2016. PMID: 26549049
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: biskup 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.
261 results