The optic nerve: A “mito-window” on mitochondrial neurodegeneration

por Maresca, Alessandra, la Morgia, Chiara, Caporali, Leonardo, Valentino, Maria Lucia, Carelli, Valerio
Publicado 2013

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy

por Santarelli, Rosamaria, La Morgia, Chiara, Valentino, Maria Lucia, Barboni, Piero, Monteleone, Anna, Scimemi, Pietro, Carelli, Valerio
Publicado 2019

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age

por Scarpini, Gaia, Valentino, Maria Lucia, Giannotta, Melania, Ragni, Luca, Torella, Annalaura, Columbaro, Marta, Nigro, Vincenzo, Pini, Antonella
Publicado 2021

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia

por Palombo, Flavia, La Morgia, Chiara, Fiorini, Claudio, Caporali, Leonardo, Valentino, Maria Lucia, Donadio, Vincenzo, Liguori, Rocco, Carelli, Valerio
Publicado 2022

The relevance of migraine in the clinical spectrum of mitochondrial disorders

por Terrin, Alberto, Bello, Luca, Valentino, Maria Lucia, Caporali, Leonardo, Sorarù, Gianni, Carelli, Valerio, Maggioni, Ferdinando, Zeviani, Massimo, Pegoraro, Elena
Publicado 2022

Expanding and validating the biomarkers for mitochondrial diseases

por Maresca, Alessandra, Del Dotto, Valentina, Romagnoli, Martina, La Morgia, Chiara, Di Vito, Lidia, Capristo, Mariantonietta, Valentino, Maria Lucia, Carelli, Valerio
Publicado 2020

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

por Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Publicado 2013

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA(Lys)

por Capristo, Mariantonietta, Del Dotto, Valentina, Tropeano, Concetta Valentina, Fiorini, Claudio, Caporali, Leonardo, La Morgia, Chiara, Valentino, Maria Lucia, Montopoli, Monica, Carelli, Valerio, Maresca, Alessandra
Publicado 2022

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

por Trifunov, Selena, Pyle, Angela, Valentino, Maria Lucia, Liguori, Rocco, Yu-Wai-Man, Patrick, Burté, Florence, Duff , Jennifer, Kleinle, Stephanie, Diebold, Isabel, Rugolo, Michela, Horvath, Rita, Carelli, Valerio
Publicado 2018

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

por Santarelli, Rosamaria, Rossi, Roberta, Scimemi, Pietro, Cama, Elona, Valentino, Maria Lucia, La Morgia, Chiara, Caporali, Leonardo, Liguori, Rocco, Magnavita, Vincenzo, Monteleone, Anna, Biscaro, Ariella, Arslan, Edoardo, Carelli, Valerio
Publicado 2015

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

por Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio
Publicado 2021

Novel mutations in DNA2 associated with myopathy and mtDNA instability

por Ronchi, Dario, Liu, Changwei, Caporali, Leonardo, Piga, Daniela, Li, Hongzhi, Tagliavini, Francesca, Valentino, Maria Lucia, Ferrò, Maria Teresa, Bini, Paola, Zheng, Li, Carelli, Valerio, Shen, Binghui, Comi, Giacomo Pietro
Publicado 2019

Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis

por Lucchini, Matteo, Maggi, Lorenzo, Pegoraro, Elena, Filosto, Massimiliano, Rodolico, Carmelo, Antonini, Giovanni, Garibaldi, Matteo, Valentino, Maria Lucia, Siciliano, Gabriele, Tasca, Giorgio, De Arcangelis, Valeria, De Fino, Chiara, Mirabella, Massimiliano
Publicado 2021

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

por Rizzo, Giovanni, Tozer, Kevin R., Tonon, Caterina, Manners, David, Testa, Claudia, Malucelli, Emil, Valentino, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Randhawa, Ruvdeep S., Ross-Cisneros, Fred N., Sadun, Alfredo A., Carelli, Valerio, Lodi, Raffaele
Publicado 2012

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy

por Southwell, Nneka, Primiano, Guido, Nadkarni, Viraj, Attarwala, Nabeel, Beattie, Emelie, Miller, Dawson, Alam, Sumaitaah, Liparulo, Irene, Shurubor, Yevgeniya I, Valentino, Maria Lucia, Carelli, Valerio, Servidei, Serenella, Gross, Steven S, Manfredi, Giovanni, Chen, Qiuying, D'Aurelio, Marilena
Publicado 2023

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

por Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Publicado 2015

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

por Montano, Vincenzo, Gruosso, Francesco, Carelli, Valerio, Comi, Giacomo Pietro, Filosto, Massimiliano, Lamperti, Costanza, Mongini, Tiziana, Musumeci, Olimpia, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Modenese, Angela, Primiano, Guido, Valentino, Maria Lucia, Bortolani, Sara, Marchet, Silvia, Meneri, Megi, Tavilla, Graziana, Siciliano, Gabriele, Mancuso, Michelangelo
Publicado 2020

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

por Fiorini, Claudio, Ormanbekova, Danara, Palombo, Flavia, Carbonelli, Michele, Amore, Giulia, Romagnoli, Martina, d’Agati, Pietro, Valentino, Maria Lucia, Barboni, Piero, Cascavilla, Maria Lucia, De Negri, Annamaria, Sadun, Federico, Carta, Arturo, Testa, Francesco, Petruzzella, Vittoria, Guerriero, Silvana, Bianchi Marzoli, Stefania, Carelli, Valerio, La Morgia, Chiara, Caporali, Leonardo
Publicado 2023

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

por Misic, Jelena, Milenkovic, Dusanka, Al-Behadili, Ali, Xie, Xie, Jiang, Min, Jiang, Shan, Filograna, Roberta, Koolmeister, Camilla, Siira, Stefan J, Jenninger, Louise, Filipovska, Aleksandra, Clausen, Anders R, Caporali, Leonardo, Valentino, Maria Lucia, La Morgia, Chiara, Carelli, Valerio, Nicholls, Thomas J, Wredenberg, Anna, Falkenberg, Maria, Larsson, Nils-Göran
Publicado 2022

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

por Caporali, Leonardo, Ghelli, Anna Maria, Iommarini, Luisa, Maresca, Alessandra, Valentino, Maria Lucia, La Morgia, Chiara, Liguori, Rocco, Zanna, Claudia, Barboni, Piero, De Nardo, Vera, Martinuzzi, Andrea, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Calvaruso, Maria Antonietta, Cappelletti, Martina, Porcelli, Anna Maria, Achilli, Alessandro, Pala, Maria, Torroni, Antonio, Carelli, Valerio
Publicado 2013