Facchini, Stefano
Facchini, Stefano
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
2024 A. Cortese, S.J. Beecroft, S. Facchini, R. Curro, M. Cabrera-Serrano, I. Stevanovski, S.R. Chintalaphani, H. Gamaarachchi, B. Weisburd, C. Folland, G. Monahan, C.K. Scriba, L. Dofash, M. Johari, B.R. Grosz, M. Ellis, L.G. Fearnley, R. Tankard, J. Read, A. Merve, N. Dominik, E. Vegezzi, R.P. Schnekenberg, G. Fernandez-Eulate, M. Masingue, D. Giovannini, M.B. Delatycki, E. Storey, M. Gardner, D.J. Amor, G. Nicholson, S. Vucic, R.D. Henderson, T. Robertson, J. Dyke, V. Fabian, F. Mastaglia, M.R. Davis, M. Kennerson, N. Null, P. Oflazer, N.A. Başak, H. Kayserili, G. Yeşil, E. Malfatti, J.B. Lilleker, M. Wicklund, R.D.S. Pitceathly, S. Brady, B. Brais, D. Pellerin, S. Zuchner, M.C. Danzi, M. Grandis, G.P. Comi, S.P. Corti, E. Abati, A. Toscano, A. Manini, A. Ghia, C. Tassorelli, I. Quartesan, R. Simone, A.M. Rossor, M.M. Reilly, L. Carroll, V. Straub, B. Udd, Z. Chen, G. Bonne, R. Quinlivan, S. Hammans, A. Tucci, M. Bahlo, C.A. Mclean, N.G. Laing, T. Stojkovic, H. Houlden, M.G. Hanna, I.W. Deveson, P.J. Lockhart, P.J. Lamont, M.C. Fahey, E. Bugiardini, G. Ravenscroft
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
2024 I. Quartesan, E. Vegezzi, R. Curro, A. Heslegrave, C. Pisciotta, P. Iruzubieta, A. Salvalaggio, G. Fernandez-Eulate, N. Dominik, B. Rugginini, A. Manini, E. Abati, S. Facchini, K. Manso, I. Albajar, R. Laban, A.M. Rossor, A. Pichiecchio, G. Cosentino, P. Saveri, E. Salsano, F. Andreetta, E.M. Valente, H. Zetterberg, P. Giunti, T. Stojkovic, C. Briani, A. Lopez De Munain, D. Pareyson, M.M. Reilly, H. Houlden, C. Tassorelli, A. Cortese
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
2024 E. Vegezzi, H. Ishiura, D.C. Bragg, D. Pellerin, F. Magrinelli, R. Currò, S. Facchini, A. Tucci, J. Hardy, N. Sharma, M.C. Danzi, S. Zuchner, B. Brais, M.M. Reilly, S. Tsuji, H. Houlden, A. Cortese
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
2023 N. Dominik, S. Magri, R. Currò, E. Abati, S. Facchini, M. Corbetta, H. Macpherson, D. Di Bella, E. Sarto, I. Stevanovski, S.R. Chintalaphani, F. Akcimen, A. Manini, E. Vegezzi, I. Quartesan, K. Montgomery, V. Pirota, E. Crespan, C. Perini, G.P. Grupelli, P.J. Tomaselli, W. Marques, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. De Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, E. Gustavsson, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. Mcdonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, B. Rugginini, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, J. Shaw, J. Polke, E. Salsano, S. Fenu, D. Pareyson, C. Pisciotta, G.K. Tofaris, A.H. Nemeth, J. Ealing, A. Radunovic, S. Kearney, K.R. Kumar, S. Vucic, M. Kennerson, M.M. Reilly, H. Houlden, I. Deveson, A. Tucci, F. Taroni, A. Cortese
RFC1 expansions are a common cause of idiopathic sensory neuropathy
2021 R. Currò, A. Salvalaggio, S. Tozza, C. Gemelli, N. Dominik, V. Galassi Deforie, F. Magrinelli, F. Castellani, E. Vegezzi, P. Businaro, I. Callegari, A. Pichiecchio, G. Cosentino, E. Alfonsi, E. Marchioni, S. Colnaghi, S. Gana, E.M. Valente, C. Tassorelli, S. Efthymiou, S. Facchini, A. Carr, M. Laura, A.M. Rossor, H. Manji, M.P. Lunn, E. Pegoraro, L. Santoro, M. Grandis, E. Bellone, N.J. Beauchamp, M. Hadjivassiliou, D. Kaski, A.M. Bronstein, H. Houlden, M.M. Reilly, P. Mandich, A. Schenone, F. Manganelli, C. Briani, A. Cortese
| Titolo | Data di pubblicazione | Autori | Tipo | File | Abstract |
|---|---|---|---|---|---|
| A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry | 2024 | Cortese, AndreaFacchini, StefanoCorti, Stefania P. + | Article (author) | - | |
| Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum | 2024 | Facchini S.Pichiecchio A.Cosentino G.Cortese A. + | Article (author) | - | |
| Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis | 2024 | Facchini, StefanoCortese, Andrea + | Article (author) | - | |
| Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis | 2023 | Facchini, StefanoCortese, Andrea + | Article (author) | - | |
| RFC1 expansions are a common cause of idiopathic sensory neuropathy | 2021 | Pichiecchio, AnnaCosentino, GiuseppeFacchini, StefanoCortese, Andrea + | Article (author) | - |