Bibliotecas PUC-SP - Busca Integrada

Unsupervised Clustering of Optical Coherence Tomography Data in Patients with Leber Hereditary Optic Neuropathy using Non-Negative Matrix Factorization and K-Means: A Comparison

gan Martina Romagnoli, Michele Carbonelli, Giulia Amore, Victoria Lee Caporali, Claudio Fiorini, Piero Barboni, Annarita Vestri, Luigi Palla, Valerio Carelli, Chiara La Morgia
Cyhoeddwyd yn Epidemiology, Biostatistics and Public Health (2025-09-01)

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

gan Mariantonietta Capristo, Valentina Del Dotto, Concetta Valentina Tropeano, Claudio Fiorini, Leonardo Caporali, Chiara La Morgia, Maria Lucia Valentino, Monica Montopoli, Valerio Carelli, Alessandra Maresca
Cyhoeddwyd yn Molecular Medicine (2022-08-01)

Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncoc...

gan Oleksiy Tsybrovskyy, Monica De Luise, Dario deBiase, Leonardo Caporali, Claudio Fiorini, Giuseppe Gasparre, Valerio Carelli, Dominik Hackl, Larisa Imamovic, Silke Haim, Manuel Sobrinho‐Simões, Giovanni Tallini
Cyhoeddwyd yn The Journal of Pathology: Clinical Research (2022-03-01)

The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report

gan Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Maria Lucia Valentino, Sabina Capellari, Sabina Capellari, Rocco Liguori, Rocco Liguori, Valerio Carelli, Valerio Carelli
Cyhoeddwyd yn Frontiers in Genetics (2023-12-01)

Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models

gan Daniele Boso, Ilaria Piga, Chiara Trento, Sonia Minuzzo, Eleonora Angi, Luisa Iommarini, Elisabetta Lazzarini, Leonardo Caporali, Claudio Fiorini, Luigi D’Angelo, Monica De Luise, Ivana Kurelac, Matteo Fassan, Anna Maria Porcelli, Filippo Navaglia, Ilaria Billato, Giovanni Esposito, Giuseppe Gasparre, Chiara Romualdi, Stefano Indraccolo
Cyhoeddwyd yn Journal of Experimental & Clinical Cancer Research (2024-12-01)

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

gan Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Valerio Carelli, Alessandra Maresca
Cyhoeddwyd yn Frontiers in Genetics (2022-11-01)

The origin of modern North Africans as depicted by a massive survey of mitogenomes

gan Giulia Colombo, Elisabetta Moroni, Alessandro Raveane, Nicola Rambaldi Migliore, Vincenzo Agostini, Rosalinda Di Gerlando, Claudio Fiorini, Leonardo Caporali, Francesca Gandini, Elena Raimondi, Eugenia D’Atanasio, Hovirag Lancioni, Valerio Carelli, Maria Pala, Beniamino Trombetta, Andrea Novelletto, Jean-Michel Dugoujon, Alessandro Achilli, Antonio Torroni, Martin B. Richards, Fulvio Cruciani, Ornella Semino, Anna Olivieri
Cyhoeddwyd yn Scientific Reports (2025-07-01)

Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

gan Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Laura Ludovica Gramegna, Fiorina Bartiromo, Fiorina Bartiromo, Caterina Tonon, Caterina Tonon, Luca Morandi, Luca Morandi, Rocco Liguori, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Raffaele Lodi, Valerio Carelli, Valerio Carelli
Cyhoeddwyd yn Frontiers in Genetics (2022-06-01)