CURRÒ, RICCARDO
CURRÒ, RICCARDO
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
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study
2023-01-01 Vegezzi, Elisa; Cortese, Andrea; Bergsland, Niels; Mussinelli, Roberta; Paoletti, Matteo; Solazzo, Francesca; Currò, Riccardo; Ascagni, Lucia; Callegari, Ilaria; Quartesan, Ilaria; Lozza, Alessandro; Deligianni, Xeni; Santini, Francesco; Marchioni, Enrico; Cosentino, Giuseppe; Alfonsi, Enrico; Tassorelli, Cristina; Bastianello, Stefano; Merlini, Giampaolo; Palladini, Giovanni; Obici, Laura; Pichiecchio, Anna
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
2020-01-01 Cortese, Andrea; Callegari, Ilaria; Currò, Riccardo; Vegezzi, Elisa; Colnaghi, Silvia; Versino, Maurizio; Alfonsi, Enrico; Cosentino, Giuseppe; Valente, Enzamaria; Gana, Simone; Tassorelli, Cristina; Pichiecchio, Anna; Rossor, Alexander M; Bugiardini, Enrico; Biroli, Antonio; Di Capua, Daniela; Houlden, Henry; Reilly, Mary M
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
2024-01-01 Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M
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
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
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
2023-01-01 Facchini, Stefano; Dominik, Natalia; Manini, Arianna; Efthymiou, Stephanie; Currò, Riccardo; Rugginini, Bianca; Vegezzi, Elisa; Quartesan, Ilaria; Perrone, Benedetta; Kutty, Shahedah Koya; Galassi Deforie, Valentina; Schnekenberg, Ricardo P; Abati, Elena; Pichiecchio, Anna; Valente, Enza Maria; Tassorelli, Cristina; Reilly, Mary M; Houlden, Henry; Bugiardini, Enrico; Cortese, Andrea
Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification
2023-01-01 Businaro, Pietro; Currò, Riccardo; Vegezzi, Elisa; Diamanti, Luca; Bini, Paola; Cosentino, Giuseppe; Alfonsi, Enrico; Farina, Lisa Maria; Colombo, Elena; Tavazzi, Eleonora; Cortese, Andrea; Scaranzin, Silvia; Gastaldi, Matteo; Marchioni, Enrico
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
The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene
2023-01-01 Tozza, Stefano; Currò, Riccardo; Severi, Daniele; Marcelli, Vincenzo; Cavaliere, Carlo; Esposito, Gabriella; Iodice, Rosa; Cortese, Andrea; Manganelli, Fiore
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
2022-01-01 Ronco, Riccardo; Perini, Cecilia; Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Gennari, Alice; Simone, Roberto; Stuart, Skye; Nagy, Sara; Vegezzi, Elisa; Quartesan, Ilaria; El-Saddig, Amar; Lavin, Timothy; Tucci, Arianna; Szymura, Agnieszka; Novis De Farias, Luiz Eduardo; Gary, Alexander; Delfeld, Megan; Kandikatla, Priscilla; Niu, Nifang; Tawde, Sanjukta; Shaw, Joseph; Polke, James; Reilly, Mary M; Wood, Nick W; Crespan, Emmanuele; Gomez, Christopher; Helen Chen, Jin Yun; Schmahmann, Jeremy Dan; Gosal, David; Houlden, Henry; Das, Soma; Cortese, Andrea
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study | 1-gen-2023 | Vegezzi, Elisa; Cortese, Andrea; Bergsland, Niels; Mussinelli, Roberta; Paoletti, Matteo; Solazzo, Francesca; Currò, Riccardo; Ascagni, Lucia; Callegari, Ilaria; Quartesan, Ilaria; Lozza, Alessandro; Deligianni, Xeni; Santini, Francesco; Marchioni, Enrico; Cosentino, Giuseppe; Alfonsi, Enrico; Tassorelli, Cristina; Bastianello, Stefano; Merlini, Giampaolo; Palladini, Giovanni; Obici, Laura; Pichiecchio, Anna | |
| Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic | 1-gen-2020 | Cortese, Andrea; Callegari, Ilaria; Currò, Riccardo; Vegezzi, Elisa; Colnaghi, Silvia; Versino, Maurizio; Alfonsi, Enrico; Cosentino, Giuseppe; Valente, Enzamaria; Gana, Simone; Tassorelli, Cristina; Pichiecchio, Anna; Rossor, Alexander M; Bugiardini, Enrico; Biroli, Antonio; Di Capua, Daniela; Houlden, Henry; Reilly, Mary M | |
| Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts | 1-gen-2024 | Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M | |
| 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 | |
| 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 | |
| Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions | 1-gen-2023 | Facchini, Stefano; Dominik, Natalia; Manini, Arianna; Efthymiou, Stephanie; Currò, Riccardo; Rugginini, Bianca; Vegezzi, Elisa; Quartesan, Ilaria; Perrone, Benedetta; Kutty, Shahedah Koya; Galassi Deforie, Valentina; Schnekenberg, Ricardo P; Abati, Elena; Pichiecchio, Anna; Valente, Enza Maria; Tassorelli, Cristina; Reilly, Mary M; Houlden, Henry; Bugiardini, Enrico; Cortese, Andrea | |
| Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification | 1-gen-2023 | Businaro, Pietro; Currò, Riccardo; Vegezzi, Elisa; Diamanti, Luca; Bini, Paola; Cosentino, Giuseppe; Alfonsi, Enrico; Farina, Lisa Maria; Colombo, Elena; Tavazzi, Eleonora; Cortese, Andrea; Scaranzin, Silvia; Gastaldi, Matteo; Marchioni, Enrico | |
| 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 | |
| The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene | 1-gen-2023 | Tozza, Stefano; Currò, Riccardo; Severi, Daniele; Marcelli, Vincenzo; Cavaliere, Carlo; Esposito, Gabriella; Iodice, Rosa; Cortese, Andrea; Manganelli, Fiore | |
| Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome | 1-gen-2022 | Ronco, Riccardo; Perini, Cecilia; Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Gennari, Alice; Simone, Roberto; Stuart, Skye; Nagy, Sara; Vegezzi, Elisa; Quartesan, Ilaria; El-Saddig, Amar; Lavin, Timothy; Tucci, Arianna; Szymura, Agnieszka; Novis De Farias, Luiz Eduardo; Gary, Alexander; Delfeld, Megan; Kandikatla, Priscilla; Niu, Nifang; Tawde, Sanjukta; Shaw, Joseph; Polke, James; Reilly, Mary M; Wood, Nick W; Crespan, Emmanuele; Gomez, Christopher; Helen Chen, Jin Yun; Schmahmann, Jeremy Dan; Gosal, David; Houlden, Henry; Das, Soma; Cortese, Andrea |