11573/1661315 - 2022 -
Dominant {ARF}3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish Fasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Adrian Conti, Libenzio; Petrini, Stefania; Bruselles, Alessandro; Guarnetti Prandi, Ingrid; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, C('(E))Line; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V.; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J.; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Reza Ahmadian, Mohammad; Lauri, Antonella; Tartaglia, Marco - 01a Articolo in rivista
rivista: NATURE COMMUNICATIONS (London: Nature Publishing Group-Springer Nature) pp. 6841- - issn: 2041-1723 - wos: WOS:000882306500018 (11) - scopus: 2-s2.0-85141710854 (9)
11573/1370708 - 2020 -
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS ([S.l.] : Elsevier Science) pp. 75-79 - issn: 1873-5126 - wos: WOS:000527333100013 (12) - scopus: 2-s2.0-85080039205 (16)
11573/1211156 - 2018 -
Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism Manti, F; Nardecchia, F; Barresi, S; Venditti, M; Pizzi, S; Hamdan, Ff; Blau, N; Burlina, A; Tartaglia, M; Leuzzi, V - 01a Articolo in rivista
rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 1-4 - issn: 1353-8020 - wos: WOS:000468719900036 (16) - scopus: 2-s2.0-85054739302 (19)