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Identification and functional characterization of rare SHANK2 variants in schizophrenia.
Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen MM, Boeckers TM, Rietschel M, Rappold GA. Peykov S, et al. Among authors: berkel s. Mol Psychiatry. 2015 Dec;20(12):1489-98. doi: 10.1038/mp.2014.172. Epub 2015 Jan 6. Mol Psychiatry. 2015. PMID: 25560758 Free PMC article.
Rare SHANK2 variants in schizophrenia.
Peykov S, Berkel S, Degenhardt F, Rietschel M, Nöthen MM, Rappold GA. Peykov S, et al. Among authors: berkel s. Mol Psychiatry. 2015 Dec;20(12):1487-8. doi: 10.1038/mp.2015.122. Epub 2015 Aug 25. Mol Psychiatry. 2015. PMID: 26303658 Free PMC article. No abstract available.
Investigation of SHANK3 in schizophrenia.
de Sena Cortabitarte A, Degenhardt F, Strohmaier J, Lang M, Weiss B, Roeth R, Giegling I, Heilmann-Heimbach S, Hofmann A, Rujescu D, Fischer C, Rietschel M, Nöthen MM, Rappold GA, Berkel S. de Sena Cortabitarte A, et al. Among authors: berkel s. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):390-398. doi: 10.1002/ajmg.b.32528. Epub 2017 Mar 28. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28371232
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA. Rafiullah R, et al. Among authors: berkel s. Eur J Hum Genet. 2017 Dec;25(12):1324-1334. doi: 10.1038/s41431-017-0031-0. Epub 2017 Nov 15. Eur J Hum Genet. 2017. PMID: 29255182 Free PMC article.
Sex Hormones Regulate SHANK Expression.
Berkel S, Eltokhi A, Fröhlich H, Porras-Gonzalez D, Rafiullah R, Sprengel R, Rappold GA. Berkel S, et al. Front Mol Neurosci. 2018 Sep 25;11:337. doi: 10.3389/fnmol.2018.00337. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30319350 Free PMC article.
90 results