Einträge von Forst, Anna-Lena auf dem Publikationsserver

Issler, Naomi, Afonso, Sara, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia , Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria , Limm, Katharina, Oefner, Peter, Witzgall, Ralph, Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology 33 (4), S. 732-745.

Lo, Jacky, Forst, Anna-Lena , Warth, Richard und Zdebik, Anselm A. (2022) EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies. Frontiers in Physiology 2022 (13), S. 852674.

Neubauer, Jacqueline , Forst, Anna-Lena, Warth, Richard , Both, Christian Peter, Haas, Cordula und Thomas, Jörg (2022) Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome. Pediatric Research 92 (4), S. 1026-1033. Volltext nicht vorhanden.

Warth, Richard, Forst, Anna-Lena, Reichold, Markus und Kleta, Robert (2021) Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM. Frontiers in Physiology 12 (715485), S. 1-10. (Eingereicht)

Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan , Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer , Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F. , Weber, Stefanie, Palygin, Oleg , Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard , Zdebik, Anselm A. und Konrad, Martin (2021) Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology 32 (6), S. 1498-1512. Volltext nicht vorhanden.

Penton, David, Vohra, Twinkle, Banki, Eszter, Wengi, Agnieszka, Weigert, Maria, Forst, Anna-Lena, Bandulik, Sascha, Warth, Richard und Loffing, Johannes (2020) Collecting system–specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet–induced hypokalemia. Kidney International 97 (6), S. 1208-1218. Volltext nicht vorhanden.

Morin, Matias , Forst, Anna-Lena, Pérez-Torre, Paula, Jiménez-Escrig, Adriano, Barca-Tierno, Verónica, García-Galloway, Eva, Warth, Richard, Lopez-Sendón Moreno, Jose Luis und Moreno-Pelayo, Miguel Angel (2020) Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. neurogenetics 21 (2), S. 135-143. Volltext nicht vorhanden.

Issler, Naomi, Afonso, Sara Cerqueira, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia , Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria , Limm, Katharina, Oefner, Peter J., Witzgall, Ralph, Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Nicht ausgewählt, Universität Regensburg. Volltext nicht vorhanden.