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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. Fasano G, et al. Among authors: chandramouli b. Nat Commun. 2022 Nov 11;13(1):6841. doi: 10.1038/s41467-022-34354-x. Nat Commun. 2022. PMID: 36369169 Free PMC article.
Broadening the PHIP-Associated Neurodevelopmental Phenotype.
Pascolini G, Scaglione GL, Chandramouli B, Castiglia D, Di Zenzo G, Didona B. Pascolini G, et al. Among authors: chandramouli b. Children (Basel). 2024 Nov 17;11(11):1395. doi: 10.3390/children11111395. Children (Basel). 2024. PMID: 39594970 Free PMC article.
Clinical phenotypes and quality of life to define post-COVID-19 syndrome: a cluster analysis of the multinational, prospective ORCHESTRA cohort.
Gentilotti E, Górska A, Tami A, Gusinow R, Mirandola M, Rodríguez Baño J, Palacios Baena ZR, Rossi E, Hasenauer J, Lopes-Rafegas I, Righi E, Caroccia N, Cataudella S, Pasquini Z, Osmo T, Del Piccolo L, Savoldi A, Kumar-Singh S, Mazzaferri F, Caponcello MG, de Boer G, Hara GL; ORCHESTRA Study Group; De Nardo P, Malhotra S, Canziani LM, Ghosn J, Florence AM, Lafhej N, van der Gun BTF, Giannella M, Laouénan C, Tacconelli E. Gentilotti E, et al. EClinicalMedicine. 2023 Jul 21;62:102107. doi: 10.1016/j.eclinm.2023.102107. eCollection 2023 Aug. EClinicalMedicine. 2023. PMID: 37654668 Free PMC article.
196 results