Výsledky vyhledávání - Francesca Cavalcanti

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  1. 1
    Splicing: is there an alternative contribution to Parkinson’s disease?

    Splicing: is there an alternative contribution to Parkinson’s disease? Autor Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro

    Vydáno 2015
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  2. 2
    The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

    The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives Autor Luigi Citrigno, M. Muglia, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Giovanni Pioggia, Antonio Cerasa

    Vydáno 2020
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  3. 3
    Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

    Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. Autor Giuseppe De Michele, Alessandro Filla, Francesca Cavalcanti, Luigi Di Maio, Luigi Pianese, Imma Castaldo, Olga Calabrese, Antonella Monticelli, S Varrone, G Campanella

    Vydáno 1994
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  4. 4
    The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions

    The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions Autor Annamaria Cerantonio, Luigi Citrigno, Beatrice Gréco, Selene De Benedittis, Giuseppe Passarino, Raffaele Maletta, Antonio Qualtieri, Alberto Montesanto, Patrizia Spadafora, Francesca Cavalcanti

    Vydáno 2024
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  5. 5
    Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer’s Disease

    Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer’s Disease Autor Annamaria Cerantonio, Beatrice Gréco, Luigi Citrigno, Selene De Benedittis, Antonio Qualtieri, Raffaele Maletta, Alberto Montesanto, Giuseppe Passarino, Patrizia Spadafora, Francesca Cavalcanti

    Vydáno 2025
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  6. 6
    A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3

    A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 Autor Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Alessandro Filla, R. Marconi, Giampiero Volpe, Antonella Monticelli, Andrea Ballabio, Giorgio Casari, Sergio Cocozza

    Vydáno 1998
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  7. 7
    Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

    Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis Autor F. L. Conforti, Rossella Spataro, William Sproviero, R. Mazzei, Francesca Cavalcanti, Francesca Condino, Isabella Laura Simone, Giancarlo Logroscino, A. Patitucci, A. Magariello, M. Muglia, Carmelo Rodolico, Paola Valentino, Francesco Bono, Tiziana Colletti, Maria Rosaria Monsurrò, Antonio Gambardella, Vincenzo La Bella

    Vydáno 2012
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  8. 8
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Autor Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo López de Munaín, Fiore Manganelli, Marina Kennerson, Filippo M. Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M. Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferrán Prados, Tarek Yousry, Vikram Khurana, Sheng‐Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette M. Hartmann, Nazlı Başak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M. Reilly, Henry Houlden, Andrea Cortese

    Vydáno 2023
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  9. 9
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Autor Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Vydáno 2025
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  10. 10
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Autor Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Inés Albájar, Catherine Ashton, Nick Beauchamp, Sarah J. Beecroft, Emilia Bellone, José Berciano, Petya Bogdanova‐Mihaylova, Barbara Borroni, Bernard Brais, Enrico Bugiardini, Catarina Falcão de Campos, Aisling Carr, Liam Carroll, Francesca Castellani, Tiziana Cavallaro, Patrick F. Chinnery, Silvia Colnaghi, Giuseppe Cosentino, Joana Damásio, Soma Das, Grazia Devigili, Daniela Di Bella, D J Dick, Alexandra Dürr, Amar El-Saddig, Jennifer Faber, Moreno Ferrarini, Massimiliano Filosto, Geraint Fuller, Salvatore Gallone, Chiara Gemelli, Marina Grandis, John Hardy, Channa Hewamadduma, Rita Horváth, Vincent Huin, Daniele Imperiale, Pablo Iruzubieta, Diego Kaski, Andrew King, Thomas Klockgether, Müge Kovancılar Koç, Kishore R. Kumar, Thierry Küntzer, Nigel G. Laing, Matilde Laurá, Timothy Lavin, Peter Leigh, Lea Leonardis, Michael P. Lunn, Stefania Magri, Francesca Magrinelli, Maria João Malaquias, Michelangelo Mancuso, Hadi Manji, Sara Massucco, John McConville, Renato P. Munhoz, Sara Nagy, Alain Ndayisaba, Andrea H. Németh, Luiz Eduardo Novis, Johanna Palmio, Elena Pegoraro, David Pellerin, Benedetta Perrone, Chiara Pisciotta, James M. Polke, Malcolm J. Proudfoot, Laura Orsi, Aleksandar Radunović, Nilo Riva, Aiko Robert, Riccardo Ronco, Elena Rossini, Alexander M. Rossor, Irmak Şahbaz, Qais Sa’di, Ettore Salsano, Alessandro Salvalaggio, Lucio Santoro, Elisa Sarto

    Vydáno 2024
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