학술논문
'학술논문'
에서 검색결과 6건 | 목록
1~10
Academic Journal
In Kidney International August 2024 106(2):180-182
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Academic Journal
Schiano, Guglielmo; Lake, Jennifer; Mariniello, Marta; Schaeffer, Céline; Harvent, Marianne; Rampoldi, Luca; Olinger, Eric; Devuyst, Olivier
EMBO Molecular Medicine; 12/7/2023, Vol. 15 Issue 12, p1-21, 21p
Academic Journal
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
Human Molecular Genetics; Jul2022, Vol. 31 Issue 13, p2262-2278, 17p
Electronic Resource
Schiano, Guglielmo; https://orcid.org/0000-0002-3549-7796; Lake, Jennifer; https://orcid.org/0000-0002-9617-7438; Mariniello, Marta; https://orcid.org/0000-0002-8254-3505; Schaeffer, Céline; https://orcid.org/0000-0001-5883-3951; Harvent, Marianne; Rampoldi, Luca; https://orcid.org/0000-0002-0544-7042; Olinger, Eric; https://orcid.org/0000-0003-1178-7980; Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767
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.
Electronic Resource
UCL - SSS/IREC/NEFR - Pôle de Néphrologie; Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph P.; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier
Human Molecular Genetics, Vol. 31, no.13, p. 2262-2278 (2022)
Electronic Resource
Krohn, Patrick; https://orcid.org/0000-0001-5821-9919; Rega, Laura Rita; https://orcid.org/0000-0003-4847-366X; Harvent, Marianne; Festa, Beatrice Paola; https://orcid.org/0000-0002-2243-6054; Taranta, Anna; https://orcid.org/0000-0002-7606-9085; Luciani, Alessandro; https://orcid.org/0000-0001-7219-3719; Dewulf, Joseph; https://orcid.org/0000-0001-7223-2706; Cremonesi, Alessio; https://orcid.org/0000-0002-1524-4169; Camassei, Francesca Diomedi; https://orcid.org/0000-0003-2829-2407; Hanson, James V M; https://orcid.org/0000-0003-3383-4856; Gerth-Kahlert, Christina; https://orcid.org/0000-0001-6298-615X; Emma, Francesco; https://orcid.org/0000-0002-0383-3468; Berquez, Marine; https://orcid.org/0000-0001-6909-2060; Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767
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.
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[AR] Harvent, Marianne
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