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Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: klauke b. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H. Klauke B, et al. PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017. PLoS One. 2017. PMID: 29253866 Free PMC article.
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.
Fatima A, Xu G, Shao K, Papadopoulos S, Lehmann M, Arnáiz-Cot JJ, Rosa AO, Nguemo F, Matzkies M, Dittmann S, Stone SL, Linke M, Zechner U, Beyer V, Hennies HC, Rosenkranz S, Klauke B, Parwani AS, Haverkamp W, Pfitzer G, Farr M, Cleemann L, Morad M, Milting H, Hescheler J, Saric T. Fatima A, et al. Among authors: klauke b. Cell Physiol Biochem. 2011;28(4):579-92. doi: 10.1159/000335753. Epub 2011 Dec 14. Cell Physiol Biochem. 2011. PMID: 22178870 Free PMC article.
Eating disorder treatment in routine clinical care: A descriptive study examining treatment characteristics and short-term treatment outcomes among patients with anorexia nervosa and bulimia nervosa in Germany and Switzerland.
Schopf K, Schneider S, Meyer AH, Lennertz J, Humbel N, Bürgy NM, Wyssen A, Biedert E, Isenschmid B, Milos G, Claussen M, Trier S, Whinyates K, Adolph D, Teismann T, Margraf J, Assion HJ, Überberg B, Juckel G, Müller J, Klauke B, Munsch S. Schopf K, et al. Among authors: klauke b. PLoS One. 2023 Jun 30;18(6):e0280402. doi: 10.1371/journal.pone.0280402. eCollection 2023. PLoS One. 2023. PMID: 37390075 Free PMC article. Clinical Trial.
48 results