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Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity
Francelle, Laetitia, Outeiro, Tiago F., Rappold, Gudrun A.
Published in Scientific reports (08.04.2020)
Published in Scientific reports (08.04.2020)
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Journal Article
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Berkel, Simone, Marshall, Christian R, Weiss, Birgit, Howe, Jennifer, Roeth, Ralph, Moog, Ute, Endris, Volker, Roberts, Wendy, Szatmari, Peter, Pinto, Dalila, Bonin, Michael, Riess, Angelika, Engels, Hartmut, Sprengel, Rolf, Scherer, Stephen W, Rappold, Gudrun A
Published in Nature genetics (01.06.2010)
Published in Nature genetics (01.06.2010)
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Journal Article
SHANK1 Deletions in Males with Autism Spectrum Disorder
Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex
Li, Xue, Xiao, Jian, Fröhlich, Henning, Tu, Xiaomeng, Li, Lianlian, Xu, Yue, Cao, Huateng, Qu, Jia, Rappold, Gudrun A., Chen, Jie-Guang
Published in PloS one (26.05.2015)
Published in PloS one (26.05.2015)
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Journal Article
SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells
Unsicker, Christine, Cristian, Flavia-Bianca, von Hahn, Manja, Eckstein, Volker, Rappold, Gudrun A., Berkel, Simone
Published in Scientific reports (22.01.2021)
Published in Scientific reports (22.01.2021)
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Journal Article
Parkinson mice show functional and molecular changes in the gut long before motoric disease onset
Gries, Manuela, Christmann, Anne, Schulte, Steven, Weyland, Maximilian, Rommel, Stephanie, Martin, Monika, Baller, Marko, Röth, Ralph, Schmitteckert, Stefanie, Unger, Marcus, Liu, Yang, Sommer, Frederik, Mühlhaus, Timo, Schroda, Michael, Timmermans, Jean-Pierre, Pintelon, Isabel, Rappold, Gudrun A., Britschgi, Markus, Lashuel, Hilal, Menger, Michael D., Laschke, Matthias W., Niesler, Beate, Schäfer, Karl-Herbert
Published in Molecular neurodegeneration (02.06.2021)
Published in Molecular neurodegeneration (02.06.2021)
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Journal Article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.
Published in Cell death & disease (30.05.2024)
Published in Cell death & disease (30.05.2024)
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Journal Article
Identification of novel genes including NAV2 associated with isolated tall stature
Weiss, Birgit, Ott, Tim, Vick, Philipp, Lui, Julian C., Roeth, Ralph, Vogel, Sebastian, Waldmüller, Stephan, Hoffmann, Sandra, Baron, Jeffrey, Wit, Jan M., Rappold, Gudrun A.
Published in Frontiers in endocrinology (Lausanne) (12.12.2023)
Published in Frontiers in endocrinology (Lausanne) (12.12.2023)
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Journal Article
Sex Hormones Regulate SHANK Expression
Berkel, Simone, Eltokhi, Ahmed, Fröhlich, Henning, Porras-Gonzalez, Diana, Rafiullah, Rafiullah, Sprengel, Rolf, Rappold, Gudrun A.
Published in Frontiers in molecular neuroscience (25.09.2018)
Published in Frontiers in molecular neuroscience (25.09.2018)
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Journal Article
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
Simm, Franziska, Griesbeck, Anne, Choukair, Daniela, Weiß, Birgit, Paramasivam, Nagarajan, Klammt, Jürgen, Schlesner, Matthias, Wiemann, Stefan, Martinez, Cristina, Hoffmann, Georg F., Pfäffle, Roland W., Bettendorf, Markus, Rappold, Gudrun A.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Journal Article
Investigation of SHANK3 in schizophrenia
de Sena Cortabitarte, Ana, Degenhardt, Franziska, Strohmaier, Jana, Lang, Maren, Weiss, Birgit, Roeth, Ralph, Giegling, Ina, Heilmann‐Heimbach, Stefanie, Hofmann, Andrea, Rujescu, Dan, Fischer, Christine, Rietschel, Marcella, Nöthen, Markus M., Rappold, Gudrun A., Berkel, Simone
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2017)
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Journal Article
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Mederer, Tanja, Schmitteckert, Stefanie, Volz, Julia, Martínez, Cristina, Röth, Ralph, Thumberger, Thomas, Eckstein, Volker, Scheuerer, Jutta, Thöni, Cornelia, Lasitschka, Felix, Carstensen, Leonie, Günther, Patrick, Holland-Cunz, Stefan, Hofstra, Robert, Brosens, Erwin, Rosenfeld, Jill A., Schaaf, Christian P., Schriemer, Duco, Ceccherini, Isabella, Rusmini, Marta, Tilghman, Joseph, Luzón-Toro, Berta, Torroglosa, Ana, Borrego, Salud, Sze-man Tang, Clara, Garcia-Barceló, Mercè, Tam, Paul, Paramasivam, Nagarajan, Bewerunge-Hudler, Melanie, De La Torre, Carolina, Gretz, Norbert, Rappold, Gudrun A., Romero, Philipp, Niesler, Beate
Published in PLoS genetics (05.11.2020)
Published in PLoS genetics (05.11.2020)
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Journal Article
Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes
Hoffmann, Sandra, Roeth, Ralph, Diebold, Sabrina, Gogel, Jasmin, Hassel, David, Just, Steffen, Rappold, Gudrun A.
Published in Frontiers in genetics (27.05.2021)
Published in Frontiers in genetics (27.05.2021)
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Journal Article
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Montalbano, Antonino, Juergensen, Lonny, Fukami, Maki, Thiel, Christian T, Hauer, Nadine H, Roeth, Ralph, Weiss, Birgit, Naiki, Yasuhiro, Ogata, Tsutomu, Hassel, David, Rappold, Gudrun A.
Published in European journal of human genetics : EJHG (01.08.2018)
Published in European journal of human genetics : EJHG (01.08.2018)
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Journal Article
Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent
Cristian, Flavia-Bianca, Köppel, Alexandra, Janssen, Johannes, Utikal, Jochen S., Rappold, Gudrun A., Berkel, Simone
Published in Stem cell research (01.12.2020)
Published in Stem cell research (01.12.2020)
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Journal Article