A Track Record on SHOX: From Basic Research to Complex Models and Therapy von Marchini, Antonio, Ogata, Tsutomu, Rappold, Gudrun A

Volltext

Celebrating the 100th anniversary of the Japan Endocrine Society and international collaborations von Rappold, Gudrun A.

Volltext

Review of the Use of Liquid Chromatography-Tandem Mass Spectrometry in Clinical Laboratories: Part II-Operations von Rappold, Brian A

Volltext

Review of the Use of Liquid Chromatography-Tandem Mass Spectrometry in Clinical Laboratories: Part I-Development von Rappold, Brian A

Volltext

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders von Bacon, Claire, Rappold, Gudrun A.

Volltext

Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity von Francelle, Laetitia, Outeiro, Tiago F., Rappold, Gudrun A.

Volltext

Generalized propensity score approach to causal inference with spatial interference von Giffin, A, Reich, B J, Yang, S, Rappold, A G

Volltext

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex von Li, Xue, Xiao, Jian, Fröhlich, Henning, Tu, Xiaomeng, Li, Lianlian, Xu, Yue, Cao, Huateng, Qu, Jia, Rappold, Gudrun A, Chen, Jie-Guang

Volltext

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation von Rappold, Gudrun A, 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

Volltext

Identification and functional characterization of rare SHANK2 variants in schizophrenia von Peykov, S, Berkel, S, Schoen, M, Weiss, K, Degenhardt, F, Strohmaier, J, Weiss, B, Proepper, C, Schratt, G, Nöthen, M M, Boeckers, T M, Rietschel, M, Rappold, G A

Volltext

SHANK1 Deletions in Males with Autism Spectrum Disorder von 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.

Volltext

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells von Unsicker, Christine, Cristian, Flavia-Bianca, von Hahn, Manja, Eckstein, Volker, Rappold, Gudrun A., Berkel, Simone

Volltext

Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E von Niesler, Beate, Frank, Bernd, Kapeller, Johannes, Rappold, Gudrun A

Volltext

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset von 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

Volltext

Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 von Rädecke, Kristin, Gore, Ambuj, Burau, Karin, Laugsch, Magdalena, Köhler, Katrin, Rappold, Gudrun A, Hoffmann, Sandra

Volltext

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder von Niesler, Beate, Rappold, Gudrun A.

Volltext

Identification of novel genes including NAV2 associated with isolated tall stature von 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

Volltext

Clinical Protein Analysis by Mass Spectrometry: A New Higher Order von Rappold, Brian A

Volltext

Sex Hormones Regulate SHANK Expression von Berkel, Simone, Eltokhi, Ahmed, Fröhlich, Henning, Porras-Gonzalez, Diana, Rafiullah, Rafiullah, Sprengel, Rolf, Rappold, Gudrun A

Volltext

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations von 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.

Volltext