Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Riccardo Currò"'
Autor:
Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1546 (2023)
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The usual procedu
Externí odkaz:
https://doaj.org/article/d715037490c640d5992b6548706932e7
Autor:
Elisa, Vegezzi, Andrea, Cortese, Niels, Bergsland, Roberta, Mussinelli, Matteo, Paoletti, Francesca, Solazzo, Riccardo, Currò, Lucia, Ascagni, Ilaria, Callegari, Ilaria, Quartesan, Alessandro, Lozza, Xeni, Deligianni, Francesco, Santini, Enrico, Marchioni, Giuseppe, Cosentino, Enrico, Alfonsi, Cristina, Tassorelli, Stefano, Bastianello, Giampaolo, Merlini, Giovanni, Palladini, Laura, Obici, Anna, Pichiecchio
Publikováno v:
Journal of Neurology. 270:328-339
Background The development of reproducible and sensitive outcome measures has been challenging in hereditary transthyretin (ATTRv) amyloidosis. Recently, quantification of intramuscular fat by magnetic resonance imaging (MRI) has proven as a sensitiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eccd00efd33279bc5f17b2b93bfeb85f
https://doi.org/10.1007/s00415-022-11336-z
https://doi.org/10.1007/s00415-022-11336-z
Autor:
Luke Francis O'Donnell, Andrea Cortese, Alexander M Rossor, Matilde Laura, Julian Blake, Mariola Skorupinska, Michael P Lunn, John S Thornton, Riccardo Currò, Jasper M Morrow, Mary M Reilly
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 94:88-90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c12a21e92569172a9beddba0e69e8f
https://doi.org/10.1136/jnnp-2022-329432
https://doi.org/10.1136/jnnp-2022-329432
Publikováno v:
Practical Neurology. 22:14-18
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) typically presents in middle life with a combination of neuropathy, ataxia and vestibular disease, with patients reporting progressive imbalance, oscillopsia, sensory disturbanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72c86cef1ee22bd5a822c21c29a7d66
https://doi.org/10.1136/practneurol-2020-002822
https://doi.org/10.1136/practneurol-2020-002822
Autor:
Stefano Tozza, Riccardo Currò, Daniele Severi, Vincenzo Marcelli, Carlo Cavaliere, Gabriella Esposito, Rosa Iodice, Andrea Cortese, Fiore Manganelli
Publikováno v:
Acta neurologica Belgica.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0b2c5b5512577702f3a709e86bfb09
https://pubmed.ncbi.nlm.nih.gov/36214978
https://pubmed.ncbi.nlm.nih.gov/36214978
Autor:
Riccardo, Ronco, Cecilia, Perini, Riccardo, Currò, Natalia, Dominik, Stefano, Facchini, Alice, Gennari, Roberto, Simone, Skye, Stuart, Sara, Nagy, Elisa, Vegezzi, Ilaria, Quartesan, Amar, El-Saddig, Timothy, Lavin, Arianna, Tucci, Agnieszka, Szymura, Luiz Eduardo, Novis De Farias, Alexander, Gary, Megan, Delfeld, Priscilla, Kandikatla, Nifang, Niu, Sanjukta, Tawde, Joseph, Shaw, James, Polke, Mary M, Reilly, Nick W, Wood, Emmanuele, Crespan, Christopher, Gomez, Jin Yun, Helen Chen, Jeremy Dan, Schmahmann, David, Gosal, Henry, Houlden, Soma, Das, Andrea, Cortese
Publikováno v:
Neurology.
Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99c5c9bef884747d0fc17c5c8b62c065
https://pubmed.ncbi.nlm.nih.gov/36289003
https://pubmed.ncbi.nlm.nih.gov/36289003
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
Autor:
Pietro Businaro, Riccardo Currò, Elisa Vegezzi, Luca Diamanti, Paola Bini, Giuseppe Cosentino, Enrico Alfonsi, Lisa Maria Farina, Elena Colombo, Eleonora Tavazzi, Andrea Cortese, Silvia Scaranzin, Matteo Gastaldi, Enrico Marchioni
Publikováno v:
Multiple Sclerosis and Related Disorders. :104781
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0a62a23512a0d4458e0d509d71c616b
https://doi.org/10.1016/j.msard.2023.104781
https://doi.org/10.1016/j.msard.2023.104781
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/3d3a73f27b2c489eb0df7f7ab3fdcbf8
Autor:
Tanya Stojkovic, Thierry Maisonobe, Henry Houlden, Stefano Tozza, Riccardo Currò, Wai Yan Yau, Zoe Dyer, Stephan Züchner, Nigel G. Laing, Lea Leonardis, Paola Giunti, Phillipa J. Lamont, Gilbert J Thomas-Black, Roisin Sullivan, Wilson Marques, Stephanie Efthymiou, Salvatore Rossi, Patrick F. Chinnery, Andrea Cortese, Sarah J. Beecroft, Andrew Chancellor, Diego Kaski, Menelaos Pipis, Richard Roxburgh, Pedro J. Tomaselli, Gianina Ravenscroft, Matilde Laura, Alexander M. Rossor, Alejandro Horga, Cristina Tassorelli, James M. Polke, Adolfo M. Bronstein, Yann Péréon, Giulia Mallucci, Mary M. Reilly, Silvia Colnaghi, Rita Horvath, Stuart Mossman, Zane Jaunmuktane, Nicholas W. Wood, Grazia Devigili, Cécile Cauquil
Publikováno v:
Brain
See Paisán-Ruiz and Jen (doi:10.1093/brain/awaa015) for a scientific commentary on this article. Cortese et al. describe the full disease phenotype, including progression of ataxia, in 100 confirmed carriers of RFC1 repeat expansions. RFC1 repeat ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b621364d74ac06a1f4907a87bf4d5c
https://pubmed.ncbi.nlm.nih.gov/32949124
https://pubmed.ncbi.nlm.nih.gov/32949124