المؤلفون: Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Céline, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric, Devuyst, Olivier

المصدر: Schiano, Guglielmo; Lake, Jennifer; Mariniello, Marta; Schaeffer, Céline; Harvent, Marianne; Rampoldi, Luca; Olinger, Eric; Devuyst, Olivier (2023). Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease. EMBO Molecular Medicine:e18242.

مصطلحات موضوعية: Institute of Physiology, Center for Microscopy and Image Analysis, 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest; info:pmid/37885358; urn:issn:1757-4676

الإتاحة: https://doi.org/10.5167/uzh-23916610.15252/emmm.202318242Test
https://www.zora.uzh.ch/id/eprint/239166Test/
https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest

المؤلفون: Krohn, Patrick, Rega, Laura Rita, Harvent, Marianne, Festa, Beatrice Paola, Taranta, Anna, Luciani, Alessandro, Dewulf, Joseph, Cremonesi, Alessio, Camassei, Francesca Diomedi, Hanson, James V M, Gerth-Kahlert, Christina, Emma, Francesco, Berquez, Marine, Devuyst, Olivier

المصدر: Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier (2022). Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Human Molecular Genetics, 31(13):2262-2278.

مصطلحات موضوعية: Medical Clinic, Ophthalmology Clinic, Institute of Physiology, 610 Medicine & health, Genetics (clinical), Genetics, Molecular Biology, General Medicine

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/217886/1/CREAL-Multisystem_involvement,_defective_lysosomes_and.pdfTest; info:pmid/35137071; urn:issn:0964-6906

الإتاحة: https://doi.org/10.5167/uzh-21788610.1093/hmg/ddac033Test
https://www.zora.uzh.ch/id/eprint/217886Test/
https://www.zora.uzh.ch/id/eprint/217886/1/CREAL-Multisystem_involvement,_defective_lysosomes_and.pdfTest

المؤلفون: Harvent, Marianne, Devuyst, Olivier

المصدر: Kidney International; August 2024, Vol. 106 Issue: 2 p180-182, 3p