Facchini, Stefano
Facchini, Stefano
DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO E DEL COMPORTAMENTO
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
2024-01-01 Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Null, Null; Oflazer, Piraye; Başak, Nazli A.; Kayserili, Hülya; Yeşil, Gözde; Malfatti, Edoardo; Lilleker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisèle; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; Mclean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina
Increased frequency of repeat expansion mutations across different populations
2024-01-01 Ibañez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Galassi Deforie, Valentina; Dalmia, Anupriya; Hensman Moss, Davina J.; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
2024-01-01 Vegezzi, Elisa; Ishiura, Hiroyuki; Bragg, D Cristopher; Pellerin, David; Magrinelli, Francesca; Currò, Riccardo; Facchini, Stefano; Tucci, Arianna; Hardy, John; Sharma, Nutan; Danzi, Matt C; Zuchner, Stephan; Brais, Bernard; Reilly, Mary M; Tsuji, Shoji; Houlden, Henry; Cortese, Andrea
No-signaling, entanglement-breaking, and localizability in bipartite channels
2011-01-01 D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
2023-01-01 Dominik, Natalia; Magri, Stefania; Currò, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J; Marques, Wilson; Ambrose, J C; Arumugam, P; Baple, E L; Bleda, M; Boardman-Pretty, F; Boissiere, J M; Boustred, C R; Brittain, H; Caulfield, M J; Chan, G C; Craig, C E H; Daugherty, L C; de Burca, A; Devereau, A; Elgar, G; Foulger, R E; Fowler, T; Furió-Tarí, P; Gustavsson, E; Hackett, J M; Halai, D; Hamblin, A; Henderson, S; Holman, J E; Hubbard, T J P; Ibáñez, K; Jackson, R; Jones, L J; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S E A; Leong, I U S; Lopez, F J; Maleady-Crowe, F; Mason, J; Mcdonagh, E M; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A C; Odhams, C A; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Rugginini, B; Savage, K; Sawant, K; Scott, R H; Siddiq, A; Sieghart, A; Smedley, D; Smith, K R; Sosinsky, A; Spooner, W; Stevens, H E; Stuckey, A; Sultana, R; Thomas, E R A; Thompson, S R; Tregidgo, C; Tucci, A; Walsh, E; Watters, S A; Welland, M J; Williams, E; Witkowska, K; Wood, S M; Zarowiecki, M; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K; Nemeth, Andrea H; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R; Vucic, Steve; Kennerson, Marina; Reilly, Mary M; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea
Optimal quantum learning of a unitary transformation
2010-01-01 Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo
Optimal quantum tomography
2009-01-01 Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo
Optimal quantum tomography of states, measurements, and transformations
2009-01-01 Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo
Probability-fidelity tradeoffs for targeted quantum operations
2009-01-01 D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo; Sacchi, Massimiliano
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
2023-01-01 Lam, T.; Rocca, C.; Ibanez, K.; Dalmia, A.; Tallman, S.; Hadjivassiliou, M.; Hensiek, A.; Nemeth, A.; Facchini, S.; Wood, N.; Cortese, A.; Houlden, H.; Tucci, A.
RFC1 expansions are a common cause of idiopathic sensory neuropathy
2021-01-01 Currò, Riccardo; Salvalaggio, Alessandro; Tozza, Stefano; Gemelli, Chiara; Dominik, Natalia; Galassi Deforie, Valentina; Magrinelli, Francesca; Castellani, Francesca; Vegezzi, Elisa; Businaro, Pietro; Callegari, Ilaria; Pichiecchio, Anna; Cosentino, Giuseppe; Alfonsi, Enrico; Marchioni, Enrico; Colnaghi, Silvia; Gana, Simone; Valente, Enza Maria; Tassorelli, Cristina; Efthymiou, Stephanie; Facchini, Stefano; Carr, Aisling; Laura, Matilde; Rossor, Alexander M; Manji, Hadi; Lunn, Michael P; Pegoraro, Elena; Santoro, Lucio; Grandis, Marina; Bellone, Emilia; Beauchamp, Nicholas J; Hadjivassiliou, Marios; Kaski, Diego; Bronstein, Adolfo M; Houlden, Henry; Reilly, Mary M; Mandich, Paola; Schenone, Angelo; Manganelli, Fiore; Briani, Chiara; Cortese, Andrea
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
2024-01-01 Quartesan, I.; Vegezzi, E.; Curro, R.; Heslegrave, A.; Pisciotta, C.; Iruzubieta, P.; Salvalaggio, A.; Fernandez-Eulate, G.; Dominik, N.; Rugginini, B.; Manini, A.; Abati, E.; Facchini, S.; Manso, K.; Albajar, I.; Laban, R.; Rossor, A. M.; Pichiecchio, A.; Cosentino, G.; Saveri, P.; Salsano, E.; Andreetta, F.; Valente, E. M.; Zetterberg, H.; Giunti, P.; Stojkovic, T.; Briani, C.; Lopez de Munain, A.; Pareyson, D.; Reilly, M. M.; Houlden, H.; Tassorelli, C.; Cortese, A.
Titolo | Data di pubblicazione | Autore(i) | File |
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry | 1-gen-2024 | Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Null, Null; Oflazer, Piraye; Başak, Nazli A.; Kayserili, Hülya; Yeşil, Gözde; Malfatti, Edoardo; Lilleker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisèle; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; Mclean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina | |
Increased frequency of repeat expansion mutations across different populations | 1-gen-2024 | Ibañez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Galassi Deforie, Valentina; Dalmia, Anupriya; Hensman Moss, Davina J.; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna | |
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis | 1-gen-2024 | Vegezzi, Elisa; Ishiura, Hiroyuki; Bragg, D Cristopher; Pellerin, David; Magrinelli, Francesca; Currò, Riccardo; Facchini, Stefano; Tucci, Arianna; Hardy, John; Sharma, Nutan; Danzi, Matt C; Zuchner, Stephan; Brais, Bernard; Reilly, Mary M; Tsuji, Shoji; Houlden, Henry; Cortese, Andrea | |
No-signaling, entanglement-breaking, and localizability in bipartite channels | 1-gen-2011 | D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo | |
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis | 1-gen-2023 | Dominik, Natalia; Magri, Stefania; Currò, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J; Marques, Wilson; Ambrose, J C; Arumugam, P; Baple, E L; Bleda, M; Boardman-Pretty, F; Boissiere, J M; Boustred, C R; Brittain, H; Caulfield, M J; Chan, G C; Craig, C E H; Daugherty, L C; de Burca, A; Devereau, A; Elgar, G; Foulger, R E; Fowler, T; Furió-Tarí, P; Gustavsson, E; Hackett, J M; Halai, D; Hamblin, A; Henderson, S; Holman, J E; Hubbard, T J P; Ibáñez, K; Jackson, R; Jones, L J; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S E A; Leong, I U S; Lopez, F J; Maleady-Crowe, F; Mason, J; Mcdonagh, E M; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A C; Odhams, C A; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Rugginini, B; Savage, K; Sawant, K; Scott, R H; Siddiq, A; Sieghart, A; Smedley, D; Smith, K R; Sosinsky, A; Spooner, W; Stevens, H E; Stuckey, A; Sultana, R; Thomas, E R A; Thompson, S R; Tregidgo, C; Tucci, A; Walsh, E; Watters, S A; Welland, M J; Williams, E; Witkowska, K; Wood, S M; Zarowiecki, M; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K; Nemeth, Andrea H; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R; Vucic, Steve; Kennerson, Marina; Reilly, Mary M; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea | |
Optimal quantum learning of a unitary transformation | 1-gen-2010 | Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo | |
Optimal quantum tomography | 1-gen-2009 | Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo | |
Optimal quantum tomography of states, measurements, and transformations | 1-gen-2009 | Bisio, Alessandro; Chiribella, Giulio; D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo | |
Probability-fidelity tradeoffs for targeted quantum operations | 1-gen-2009 | D'Ariano, Giacomo; Facchini, Stefano; Perinotti, Paolo; Sacchi, Massimiliano | |
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population | 1-gen-2023 | Lam, T.; Rocca, C.; Ibanez, K.; Dalmia, A.; Tallman, S.; Hadjivassiliou, M.; Hensiek, A.; Nemeth, A.; Facchini, S.; Wood, N.; Cortese, A.; Houlden, H.; Tucci, A. | |
RFC1 expansions are a common cause of idiopathic sensory neuropathy | 1-gen-2021 | Currò, Riccardo; Salvalaggio, Alessandro; Tozza, Stefano; Gemelli, Chiara; Dominik, Natalia; Galassi Deforie, Valentina; Magrinelli, Francesca; Castellani, Francesca; Vegezzi, Elisa; Businaro, Pietro; Callegari, Ilaria; Pichiecchio, Anna; Cosentino, Giuseppe; Alfonsi, Enrico; Marchioni, Enrico; Colnaghi, Silvia; Gana, Simone; Valente, Enza Maria; Tassorelli, Cristina; Efthymiou, Stephanie; Facchini, Stefano; Carr, Aisling; Laura, Matilde; Rossor, Alexander M; Manji, Hadi; Lunn, Michael P; Pegoraro, Elena; Santoro, Lucio; Grandis, Marina; Bellone, Emilia; Beauchamp, Nicholas J; Hadjivassiliou, Marios; Kaski, Diego; Bronstein, Adolfo M; Houlden, Henry; Reilly, Mary M; Mandich, Paola; Schenone, Angelo; Manganelli, Fiore; Briani, Chiara; Cortese, Andrea | |
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum | 1-gen-2024 | Quartesan, I.; Vegezzi, E.; Curro, R.; Heslegrave, A.; Pisciotta, C.; Iruzubieta, P.; Salvalaggio, A.; Fernandez-Eulate, G.; Dominik, N.; Rugginini, B.; Manini, A.; Abati, E.; Facchini, S.; Manso, K.; Albajar, I.; Laban, R.; Rossor, A. M.; Pichiecchio, A.; Cosentino, G.; Saveri, P.; Salsano, E.; Andreetta, F.; Valente, E. M.; Zetterberg, H.; Giunti, P.; Stojkovic, T.; Briani, C.; Lopez de Munain, A.; Pareyson, D.; Reilly, M. M.; Houlden, H.; Tassorelli, C.; Cortese, A. |