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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L. Harel T, et al. Among authors: paolucci sa. Brain. 2024 May 16:awae160. doi: 10.1093/brain/awae160. Online ahead of print. Brain. 2024. PMID: 38753057
Dynamics of viral DNA shedding and culture viral DNA positivity in different clinical samples collected during the 2022 mpox outbreak in Lombardy, Italy.
Piralla A, Mileto D, Rizzo A, Ferrari G, Giardina F, Gaiarsa S, Petazzoni G, Bianchi M, Salari F, Bracchitta F, Sammartino JC, Ferrari A, Gagliardi G, Mancon A, Fenizia C, Biasin M, Rovida F, Paolucci S, Percivalle E, Lombardi A, Micheli V, Nozza S, Castagna A, Moschese D, Antinori S, Gori A, Bonfanti P, Rossotti R, D'Arminio Monforte A, Attanasi F, Tirani M, Cereda D, Baldanti F, Gismondo MR; MPXV Lombardy Network. Piralla A, et al. Among authors: paolucci s. Travel Med Infect Dis. 2024 May-Jun;59:102698. doi: 10.1016/j.tmaid.2024.102698. Epub 2024 Mar 29. Travel Med Infect Dis. 2024. PMID: 38556220 Free article.
Cortico-cortical stimulation and robot-assisted therapy (CCS and RAT) for upper limb recovery after stroke: study protocol for a randomised controlled trial.
Cinnera AM, Bonnì S, D'Acunto A, Maiella M, Ferraresi M, Casula EP, Pezzopane V, Tramontano M, Iosa M, Paolucci S, Morone G, Vannozzi G, Koch G. Cinnera AM, et al. Among authors: paolucci s. Trials. 2023 Dec 21;24(1):823. doi: 10.1186/s13063-023-07849-1. Trials. 2023. PMID: 38129910 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: paolucci s. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
406 results