RONCO, RICCARDO
RONCO, RICCARDO
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
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 |
|---|---|---|---|
| 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 | |
| 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 |