The Y831C Mutation of the POLG Gene in Dementia

por Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Lanza, Giuseppe, Cantone, Mariagiovanna, Ferri, Raffaele, Scuderi, Carmela
Publicado 2023

mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease

por Salemi, Michele, Cosentino, Filomena, Lanza, Giuseppe, Cantone, Mariagiovanna, Salluzzo, Maria Grazia, Giurato, Giorgio, Borgione, Eugenia, Marchese, Giovanna, Santa Paola, Sandro, Lanuzza, Bartolo, Romano, Corrado, Ferri, Raffaele
Publicado 2021

A Transcriptome Analysis of mRNAs and Long Non-Coding RNAs in Patients with Parkinson’s Disease

por Salemi, Michele, Lanza, Giuseppe, Mogavero, Maria Paola, Cosentino, Filomena I. I., Borgione, Eugenia, Iorio, Roberta, Ventola, Giovanna Maria, Marchese, Giovanna, Salluzzo, Maria Grazia, Ravo, Maria, Ferri, Raffaele
Publicado 2022

The Mitochondrial tRNA(Ser(UCN)) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

por Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Di Blasi, Francesco Domenico, Di Stefano, Vincenzo, Lupica, Antonino, Brighina, Filippo, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela
Publicado 2023

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

por Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E., Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V., Simpson, Michael A., Rich, Philip, Al-Salmi, Fatema, Patton, Michael A., Chioza, Barry A., Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G., Pucci, Piero, Houlden, Henry, Lupski, James R., Crosby, Andrew H., Baple, Emma L.
Publicado 2017

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

por Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Publicado 2020