Kết quả tìm kiếm - Francesca Cavalcanti
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Splicing: is there an alternative contribution to Parkinson’s disease? Bằng Valentina La Cognata, Velia D’Agata, Francesca Cavalcanti, Sebastiano Cavallaro
Được phát hành 2015Revisão -
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. Bằng Giuseppe De Michele, Alessandro Filla, Francesca Cavalcanti, Luigi Di Maio, Luigi Pianese, Imma Castaldo, Olga Calabrese, Antonella Monticelli, S Varrone, G Campanella
Được phát hành 1994Artigo -
4
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions Bằng Annamaria Cerantonio, Luigi Citrigno, Beatrice Gréco, Selene De Benedittis, Giuseppe Passarino, Raffaele Maletta, Antonio Qualtieri, Alberto Montesanto, Patrizia Spadafora, Francesca Cavalcanti
Được phát hành 2024Artigo -
5
Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer’s Disease Bằng Annamaria Cerantonio, Beatrice Gréco, Luigi Citrigno, Selene De Benedittis, Antonio Qualtieri, Raffaele Maletta, Alberto Montesanto, Giuseppe Passarino, Patrizia Spadafora, Francesca Cavalcanti
Được phát hành 2025Revisão -
6
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 Bằng Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Alessandro Filla, R. Marconi, Giampiero Volpe, Antonella Monticelli, Andrea Ballabio, Giorgio Casari, Sergio Cocozza
Được phát hành 1998Artigo -
7
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis Bằng 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
Được phát hành 2012Artigo -
8
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Bằng 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
Được phát hành 2023Pré-impressão -
9
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Bằng 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
Được phát hành 2025Artigo -
10
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Bằng 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
Được phát hành 2024Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Medicine
Gene
Genetics
Disease
Neuroscience
Age of onset
Bioinformatics
Internal medicine
Pathology
Allele
Amyotrophic lateral sclerosis
Computational biology
Locus (genetics)
Mitochondrial DNA
Mitochondrion
Psychiatry
Trinucleotide repeat expansion
Alternative splicing
Alzheimer's disease
Ankle
Autism
Autism spectrum disorder
Biochemistry
Biomarker
Cerebral palsy
Cognitive decline
Compound heterozygosity
Context (archaeology)
DNA methylation