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SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA.
Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E. Germani S, et al. Among authors: piccoli g. Cell Rep Med. 2024 Mar 19;5(3):101439. doi: 10.1016/j.xcrm.2024.101439. Epub 2024 Feb 22. Cell Rep Med. 2024. PMID: 38402623 Free PMC article.
Correction to: Chronic kidney disease, female infertility, and medically assisted reproduction: a best practice position statement by the Kidney and Pregnancy Group of the Italian Society of Nephrology.
Attini R, Cabiddu G, Ciabatti F, Montersino B, Carosso AR, Gernone G, Gammaro L, Moroni G, Torreggiani M, Masturzo B, Santoro D, Revelli A, Piccoli GB; Italian Society of Nephrology’s Project Group on Kidney and Pregnancy. Attini R, et al. Among authors: piccoli gb. J Nephrol. 2024 May 9. doi: 10.1007/s40620-024-01980-1. Online ahead of print. J Nephrol. 2024. PMID: 38724876 No abstract available.
Hypertension and Proteinuria in a Pregnancy: A Quiz.
Torreggiani M, Stancanelli MR, Njandjo L, Fois A, Piccoli GB. Torreggiani M, et al. Among authors: piccoli gb. Am J Kidney Dis. 2024 May;83(5):A17-A18. doi: 10.1053/j.ajkd.2023.10.019. Am J Kidney Dis. 2024. PMID: 38643986 No abstract available.
Who are the new doctors?
Piccoli GB. Piccoli GB. J Nephrol. 2024 Mar;37(2):263-264. doi: 10.1007/s40620-024-01948-1. J Nephrol. 2024. PMID: 38643309 No abstract available.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M. Billon C, et al. Among authors: piccoli gb. Mol Genet Genomics. 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. Mol Genet Genomics. 2024. PMID: 38625590
961 results