Search Results - "Valentino, Maria Lucia"

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy by Licchetta, Laura, Ferri, Lorenzo, La Morgia, Chiara, Zenesini, Corrado, Caporali, Leonardo, Lucia Valentino, Maria, Minardi, Raffaella, Fulitano, Daniela, Di Vito, Lidia, Mostacci, Barbara, Alvisi, Lara, Avoni, Patrizia, Liguori, Rocco, Tinuper, Paolo, Bisulli, Francesca, Carelli, Valerio

“…The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due…”
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OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation by 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

“…Hearing impairment is the second most prevalent clinical feature after optic atrophy in dominant optic atrophy associated with mutations in the OPA1 gene. In…”
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Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation by Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Caldarazzo Ienco, Elena, Filosto, Massimiliano, Lamperti, Costanza, Martinelli, Diego, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Spinazzi, Marco, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

“…OBJECTIVES:Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of…”
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The relevance of migraine in the clinical spectrum of mitochondrial disorders by Terrin, Alberto, Bello, Luca, Valentino, Maria Lucia, Caporali, Leonardo, Sorarù, Gianni, Carelli, Valerio, Maggioni, Ferdinando, Zeviani, Massimo, Pegoraro, Elena

“…Recent scientific evidence suggests a link between migraine and brain energy metabolism. In fact, migraine is frequently observed in mitochondrial disorders…”
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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy by Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio

“…We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense…”
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy by Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio

“…Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only…”
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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys by Capristo, Mariantonietta, Del Dotto, Valentina, Tropeano, Concetta Valentina, Fiorini, Claudio, Caporali, Leonardo, La Morgia, Chiara, Valentino, Maria Lucia, Montopoli, Monica, Carelli, Valerio, Maresca, Alessandra

“…BackgroundMyoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA)…”
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Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion by 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

“…Abstract The in vivo role for RNase H1 in mammalian mitochondria has been much debated. Loss of RNase H1 is embryonic lethal and to further study its role in…”
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A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy by 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

“…Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues…”
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The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? by Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Alice, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Ienco, Elena Caldarazzo, Filosto, Massimiliano, Lamperti, Costanza, Catteruccia, Michela, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

“…The m.3243A>G “MELAS” (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the…”
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The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report by Vacchiano, Veria, Palombo, Flavia, Ormanbekova, Danara, Fiorini, Claudio, Fiorentino, Alessia, Caporali, Leonardo, Mastrangelo, Andrea, Valentino, Maria Lucia, Capellari, Sabina, Liguori, Rocco, Carelli, Valerio

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic…”
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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background by Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.

“…Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance…”
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Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis by 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

“…In recent years, an autoantibody directed against the 5′-citosolic nucleotidase1A (cN1A) was identified in the sera of sporadic inclusion body myositis (s-IBM)…”
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Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy by Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio

“…Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial…”
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Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy by Santarelli, Rosamaria, La Morgia, Chiara, Valentino, Maria Lucia, Barboni, Piero, Monteleone, Anna, Scimemi, Pietro, Carelli, Valerio

“…Hidden auditory neuropathy is characterized by reduced performances in challenging auditory tasks with the preservation of hearing thresholds, resulting from…”
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Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy by 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

“…Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral…”
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Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome by La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees by Carelli, Valerio, Achilli, Alessandro, Valentino, Maria Lucia, Rengo, Chiara, Semino, Ornella, Pala, Maria, Olivieri, Anna, Mattiazzi, Marina, Pallotti, Francesco, Carrara, Franco, Zeviani, Massimo, Leuzzi, Vincenzo, Carducci, Carla, Valle, Giorgio, Simionati, Barbara, Mendieta, Luana, Salomao, Solange, Belfort, Rubens, Sadun, Alfredo A., Torroni, Antonio

“…The mitochondrial DNA (mtDNA) of 87 index cases with Leber hereditary optic neuropathy (LHON) sequentially diagnosed in Italy, including an extremely large…”
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Association of Optic Disc Size with Development and Prognosis of Leber's Hereditary Optic Neuropathy by Ramos, Carolina do V. F, Bellusci, Costantino, Savini, Giacomo, Carbonelli, Michele, Berezovsky, Adriana, Tamaki, Celina, Cinoto, Rafael, Sacai, Paula Y, Moraes-Filho, Milton N, Miura, Hevillin M. P. P, Valentino, Maria Lucia, Iommarini, Luisa, De Negri, Anna Maria, Sadun, Federico, Cortelli, Pietro, Montagna, Pasquale, Salomao, Solange R, Sadun, Alfredo A, Carelli, Valerio, Barboni, Piero

“…To study the optic nerve head (ONH) morphology of patients with Leber's hereditary optic neuropathy (LHON) in a large family from Brazil carrying the 11778/ND4…”
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Secondary post-geniculate involvement in Leber's hereditary optic neuropathy by 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

“…Leber's hereditary optic neuropathy (LHON) is characterized by retinal ganglion cell (RGC) degeneration with the preferential involvement of those forming the…”
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