Sökresultat - Massimo Carella
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High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE av Stefano Castellana, Caterina Fusilli, Gianluigi Mazzoccoli, Tommaso Biagini, Daniele Capocefalo, Massimo Carella, Angelo L. Vescovi, Tommaso Mazza
Publicerad 2017Artigo -
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Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia av Sandra, Mastroianno, Maria Pia, Leone, Stefano, Castellana, Pietro, Palumbo, Crociani, Paola, Aldo, Russo, Giuseppe, Di Stolfo, Massimo, Carella
Publicerad 2019Text -
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The Common −866G/A Polymorphism in the Promoter Region of the UCP-2 Gene Is Associated with Reduced Risk of Type 2 Diabetes in Caucasians from Italy av Angela Bulotta, Ornella Ludovico, Angelo Coco, Rosa Di Paola, Alessandro Quattrone, Massimo Carella, Fabio Pellegrini, Sabrina Prudente, Vincenzo Trischitta
Publicerad 2005Artigo -
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Mitochondrial dysregulation and oxidative stress in patients with chronic kidney disease av Simona Granata, Gianluigi Zaza, Simona Simone, Gaetano Villani, Dominga Latorre, Paola Pontrelli, Massimo Carella, Francesco Paolo Schena, Giuseppe Grandaliano, Giovanni Pertosa
Publicerad 2009Artigo -
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BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments av Arianna Consiglio, Massimo Carella, De Giorgio, Gianfranco Delle Foglie, Candida Giovannelli, Giorgio Grillo, Massimo Ianigro, Flavio Licciulli, Orazio Palumbo, Ada Piepoli, Elena Ranieri, Sabino Liuni
Publicerad 2012Artigo -
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits av Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, M. Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari, Giuseppe Merla
Publicerad 2013Artigo -
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Pathogenetic role of the deafness-related M34T mutation of Cx26 av Massimiliano Bicego, Martina Beltramello, Salvatore Melchionda, Massimo Carella, Valeria Piazza, Leopoldo Zelante, Feliksas F. Bukauskas, Edoardo Arslan, Elona Cama, Sergio Pantano, Roberto Bruzzone, Paola D’Andrea, Fabio Mammano
Publicerad 2006Artigo -
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Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients av Tommaso Nuzzo, Silvia Sacchi, Francesco Errico, Simona Keller, Orazio Palumbo, Ermanno Florio, Daniela Punzo, Francesco Napolitano, Massimiliano Copetti, Massimo Carella, Lorenzo Chiariotti, Alessandro Bertolino, Loredano Pollegioni, Alessandro Usiello
Publicerad 2017Artigo -
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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports av Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola
Publicerad 2009Artigo -
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Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations av Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni Battista Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi, Pio D’Adamo
Publicerad 2014Artigo -
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Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells av Elena Binda, Alberto Visioli, Fabrizio Giani, Nadia Trivieri, Orazio Palumbo, Silvia Restelli, Fabio Dezi, Tommaso Mazza, Caterina Fusilli, Federico Legnani, Massimo Carella, Francesco Di Meco, Rohit Duggal, Angelo L. Vescovi
Publicerad 2016Artigo -
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MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss av Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, María L. Arbonés, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Estivill, Karen B. Avraham, Paolo Gasparini
Publicerad 2001Artigo -
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A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 av Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe d’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese
Publicerad 2014Artigo -
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Differences in Gene Expression and Cytokine Release Profiles Highlight the Heterogeneity of Distinct Subsets of Adipose Tissue-Derived Stem Cells in the Subcutaneous and Visceral A... av Sebastio Perrini, Romina Ficarella, Ernesto Picardi, Angelo Cignarelli, Maria Pia Foschino Barbaro, Pasquale Nigro, Alessandro Peschechera, Orazio Palumbo, Massimo Carella, Michele De Fazio, Annalisa Natalicchio, Luigi Laviola, Graziano Pesole, Francesco Giorgino
Publicerad 2013Artigo -
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APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants av Salvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, Tommaso Biagini, Agnese Giovannetti, Niccolò Liorni, Alessandro Napoli, Massimo Carella, Vincent Procaccio, Marie T. Lott, Shiping Zhang, Angelo L. Vescovi, Douglas C. Wallace, Viviana Caputo, Tommaso Mazza
Publicerad 2023Artigo -
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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment av Howard T. Jacobs, Timothy Hutchin, Timo Käppi, Greta Gillies, Kia Minkkinen, John Walker, Karen Thompson, Anja T. Rovio, Massimo Carella, Salvatore Melchionda, Leopoldo Zelante, Paolo Gasparini, Ilmari Pyykkö, Zahid H. Shah, Massimo Zeviani, Robert F. Mueller
Publicerad 2004Artigo
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