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388 results

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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: decker a. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Zou F, et al. Among authors: decker a. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. J Neurogenet. 2017. PMID: 28460589 Free PMC article.
Discovery of WRN inhibitor HRO761 with synthetic lethality in MSI cancers.
Ferretti S, Hamon J, de Kanter R, Scheufler C, Andraos-Rey R, Barbe S, Bechter E, Blank J, Bordas V, Dammassa E, Decker A, Di Nanni N, Dourdoigne M, Gavioli E, Hattenberger M, Heuser A, Hemmerlin C, Hinrichs J, Kerr G, Laborde L, Jaco I, Núñez EJ, Martus HJ, Quadt C, Reschke M, Romanet V, Schaeffer F, Schoepfer J, Schrapp M, Strang R, Voshol H, Wartmann M, Welly S, Zécri F, Hofmann F, Möbitz H, Cortés-Cros M. Ferretti S, et al. Among authors: decker a. Nature. 2024 May;629(8011):443-449. doi: 10.1038/s41586-024-07350-y. Epub 2024 Apr 24. Nature. 2024. PMID: 38658754 Free PMC article.
Machine Learning-Based Perivascular Space Volumetry in Alzheimer Disease.
Deike K, Decker A, Scheyhing P, Harten J, Zimmermann N, Paech D, Peters O, Freiesleben SD, Schneider LS, Preis L, Priller J, Spruth E, Altenstein S, Lohse A, Fliessbach K, Kimmich O, Wiltfang J, Bartels C, Hansen N, Jessen F, Rostamzadeh A, Düzel E, Glanz W, Incesoy EI, Butryn M, Buerger K, Janowitz D, Ewers M, Perneczky R, Rauchmann BS, Teipel S, Kilimann I, Goerss D, Laske C, Munk MH, Spottke A, Roy N, Wagner M, Roeske S, Heneka MT, Brosseron F, Ramirez A, Dobisch L, Wolfsgruber S, Kleineidam L, Yakupov R, Stark M, Schmid MC, Berger M, Hetzer S, Dechent P, Scheffler K, Petzold GC, Schneider A, Effland A, Radbruch A. Deike K, et al. Among authors: decker a. Invest Radiol. 2024 Apr 23. doi: 10.1097/RLI.0000000000001077. Online ahead of print. Invest Radiol. 2024. PMID: 38652067
Human brain clearance imaging: Pathways taken by magnetic resonance imaging contrast agents after administration in cerebrospinal fluid and blood.
van Osch MJP, Wåhlin A, Scheyhing P, Mossige I, Hirschler L, Eklund A, Mogensen K, Gomolka R, Radbruch A, Qvarlander S, Decker A, Nedergaard M, Mori Y, Eide PK, Deike K, Ringstad G. van Osch MJP, et al. Among authors: decker a. NMR Biomed. 2024 Apr 18:e5159. doi: 10.1002/nbm.5159. Online ahead of print. NMR Biomed. 2024. PMID: 38634301 Review.
Indications for implant-supported rehabilitation of the posterior atrophic maxilla: A multidisciplinary consensus among experts in the field utilising the modified Delphi method.
Testori T, Clauser T, Rapani A, Artzi Z, Avila-Ortiz G, Barootchi S, Bressan E, Chiapasco M, Cordaro L, Decker A, De Stavola L, Di Stefano DA, Felice P, Fontana F, Grusovin MG, Jensen OT, Le BT, Lombardi T, Misch C, Pikos M, Pistilli R, Ronda M, Saleh MH, Schwartz-Arad D, Simion M, Taschieri S, Toffler M, Tozum TF, Valentini P, Vinci R, Wallace SS, Wang HL, Wen SC, Yin S, Zucchelli G, Zuffetti F, Stacchi C. Testori T, et al. Among authors: decker a. Int J Oral Implantol (Berl). 2024 Mar 19;17(1):89-100. Int J Oral Implantol (Berl). 2024. PMID: 38501401
388 results