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CAVALCANTI, FRANCESCA

CAVALCANTI, FRANCESCA  

Istituto per la Ricerca e l'Innovazione Biomedica -IRIB  

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Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1-gen-2024 Luigi Citrigno; Antonio Qualtieri; Annamaria Cerantonio; Selene De Benedittis; Olivier Gallo; Gemma Di Palma; Patrizia Spadafora; Francesca Cavalcanti
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1-gen-2024 Citrigno, Luigi; Qualtieri, Antonio; Cerantonio, Annamaria; De Benedittis, Selene; Gallo, Olivier; Di Palma, Gemma; Spadafora, Patrizia; Cavalcanti, Francesca
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 1-gen-2024 Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H; Albájar, Inés; Ashton, Catherine; Beauchamp, Nick; Beecroft, Sarah J; Bellone, Emilia; Berciano, Josè; Bogdanova-Mihaylova, Petya; Borroni, Barbara; Brais, Bernard; Bugiardini, Enrico; Campos, Catarina; Carr, Aisling; Carroll, Liam; Castellani, Francesca; Cavallaro, Tiziana; Chinnery, Patrick F; Colnaghi, Silvia; Cosentino, Giuseppe; Damasio, Joana; Das, Soma; Devigili, Grazia; Di Bella, Daniela; Dick, David; Durr, Alexandra; El-Saddig, Amar; Faber, Jennifer; Ferrarini, Moreno; Filosto, Massimiliano; Fuller, Geraint; Gallone, Salvatore; Gemelli, Chiara; Grandis, Marina; Hardy, John; Hewamadduma, Channa; Horvath, Rita; Huin, Vincent; Imperiale, Daniele; Iruzubieta, Pablo; Kaski, Diego; King, Andrew; Klockgether, Thomas; Koç, Müge; Kumar, Kishore R; Kuntzer, Thierry; Laing, Nigel; Laurà, Matilde; Lavin, Timothy; Leigh, Peter Nigel; Leonardis, Lea; Lunn, Michael P; Magri, Stefania; Magrinelli, Francesca; Malaquias, Maria João; Mancuso, Michelangelo; Manji, Hadi; Massucco, Sara; Mcconville, John; Munhoz, Renato P; Nagy, Sara; Ndayisaba, Alain; Nemeth, Andrea Hilary; Novis, Luiz Eduardo; Palmio, Johanna; Pegoraro, Elena; Pellerin, David; Perrone, Benedetta; Pisciotta, Chiara; Polke, James; Proudfoot, Malcolm; Orsi, Laura; Radunovic, Aleksandar; Riva, Nilo; Robert, Aiko; Ronco, Riccardo; Rossini, Elena; Rossor, Alex M; Şahbaz, Irmak; Sa’Di, Qais; Salsano, Ettore; Salvalaggio, Alessandro; Santoro, Lucio; Sarto, Elisa; Schaefer, Andrew; Schenone, Angelo; Scriba, Carolin; Shaw, Joseph; Silvestri, Gabriella; Stevens, James; Strupp, Michael; Sumner, Charlotte J; Szymura, Agnieszka; Tagliapietra, Matteo; Tassorelli, Cristina; Tessa, Alessandra; Theaudin, Marie; Tomaselli, Pedro; Tozza, Stefano; Tucci, Arianna; Valente, Enza Maria; Versino, Maurizio; Walsh, Richard A; Wood, Nick W; Yau, Way Yan; Zuchner, Stephan; Parolin Schnekenberg, Ricardo; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; Lòpez de Munaìn, Adolfo; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinéad M; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M; Houlden, Henry; Cortese, Andrea; Null, Null
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions 1-gen-2024 Cerantonio, A.; Citrigno, L.; Greco, B. M.; De Benedittis, S.; Passarino, G.; Maletta, R.; Qualtieri, A.; Montesanto, A.; Spadafora, P.; Cavalcanti, F.
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 1-gen-2023 Cavalcanti, Francesca; Citrigno, Luigi; Spadafora, Patrizia; DE BENEDITTIS, Selene; Gallo, Olivier; DI PALMA, Gemma; Qualtieri, Antonio
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 1-gen-2023 Patrizia Spadafora; Luigi Citrigno; Selene De Benedittis; Antonio Qualtieri; Francesca Cavalcanti; Gemma Di Palma; Olivier Gallo; Nelide Romeo
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 1-gen-2023 DE BENEDITTIS, Selene; Spadafora, Patrizia; Gaspari, Marco; I, Gabriele Qualtier; Gallo, Olivier; DI PALMA, Gemma; Cavalcanti, Francesca; Citrigno, Luigi; Qualtieri, Antonio
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 1-gen-2022 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; DI PALMA, Gemma; Gallo, Olivier; DE BENEDITTIS, Selene; Cerantonio, Annamaria; Citrigno, Luigi
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 1-gen-2022 Patrizia Spadafora; Luigi Citrigno; Francesca Cavalcanti; Gemma Di Palma, Olivier Gallo; Antonio Qualtieri
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes 1-gen-2022 Elisabetta Ferraroli; Marco Perulli; Chiara Veredice; Ilaria Contaldo; Michela Quintiliani; Martina Ricci; Ilaria Venezia; Luigi Citrigno; Antonio Qualtieri; Patrizia Spadafora; Francesca Cavalcanti; Domenica Immacolata Battaglia
Natural history study of SORD neuropathy 1-gen-2022 Cortese, Andrea; Dohrn, Maike; Curro, Riccardo; Seeman, Pavel; Stojkovic, Tanya; Hammans, Simon; Previtali, Stefano; Bolino, Alessandra; Schenone, Angelo; Kennerson, Marina; Rojasgarcia, Ricardo; Sevilla, Teresa; Hahn, Katrin; Claeys, Kristl; Brunkhorst, Robert; Cavalcanti, Francesca; Manganelli, Fiore; Zhang, Ruxu; Houlden, Henry; Scherer, Steven; Herrmann, David; Pareyson, Davide; Reilly, Mary; Shy, Michael; Zuchner, Stephan
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 1-gen-2022 Cavalcanti, Francesca; Ferraroli, Elisabetta; Perulli, Marco; Veredice, Chiara; Contaldo, Ilaria; Quintiliani, Michela; Ricci, Martina; Venezia, Ilaria; Citrigno, Luigi; Qualtieri, Antonio; Spadafora, Patrizia; Immacolata Battaglia, Domenica
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 1-gen-2021 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; Lanza, Pierluigi; Gallo, Olivier; DI PALMA, Gemma; Citrigno, Luigi
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 1-gen-2021 A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner 1-gen-2021 Suran Nethisinghe; Maheswaran Kesavan; Heather Ging; Robyn Labrum; James M. Polke; Saiful Islam; Hector GarciaMoreno; Martina F. Callaghan; Francesca Cavalcanti; Mark A. Pook; Paola Giunti
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 1-gen-2020 Luigi Citrigno; Maria Muglia; Antonio Qualtieri; Patrizia Spadafora; Francesca Cavalcanti; Giovanni Pioggia; Antonio Cerasa
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 1-gen-2019 Teresa Sprovieri; Carmine Ungaro; Serena Sivo; Michela Quintiliani;, laria Contaldo; Chiara Veredice; Luigi Citrigno; Maria Muglia; Francesca Cavalcanti; Sebastiano Cavallaro; Eugenio Maria Mercuri; Domenica Battaglia
Fast and accurate SNVs and CNVs screening in Parkinson's Disease Patients using Next-Generation approach 1-gen-2019 Citrigno, L; La Cognata, V; Bellofatto, M; Criscuolo, C; De Rosa, A; De Michele, G; Cavalcanti, F
Targeted Next-Generation Sequencing revealed rare variations in two siblings affected by late onset Parkinson's disease. 1-gen-2019 Francesca Cavalcanti; Valentina La Cognata; Marta Bellofatto; Chiara Criscuolo; Anna De Rosa; Giuseppe De Michele; Luigi Citrigno
Expanding the Global Prevalence of Spinocerebellar Ataxia Type 42 1-gen-2018 Kathie Ngo; Mamdouh Aker; Lauren E. Petty; Jason Chen; Francesca Cavalcanti; Alexandra B. Nelson; Sharon HassinBaer; Michael D. Geschwind; Susan Perlman; Domenico Italiano; Angelina Laganà; Sebastiano Cavallaro; Giovanni Coppola; Jennifer E. Below;Brent L. Fogel