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New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
Legati, Andrea, Reyes, Aurelio, Nasca, Alessia, Invernizzi, Federica, Lamantea, Eleonora, Tiranti, Valeria, Garavaglia, Barbara, Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Robinson, Alan, Ghezzi, Daniele, Zeviani, Massimo
Published in Biochimica et biophysica acta (01.08.2016)
Published in Biochimica et biophysica acta (01.08.2016)
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Journal Article
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
Frascarelli, Chiara, Zanetti, Nadia, Nasca, Alessia, Izzo, Rossella, Lamperti, Costanza, Lamantea, Eleonora, Legati, Andrea, Ghezzi, Daniele
Published in Frontiers in genetics (29.06.2023)
Published in Frontiers in genetics (29.06.2023)
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Journal Article
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies
Sala, Daniele, Marchet, Silvia, Nanetti, Lorenzo, Legati, Andrea, Mariotti, Caterina, Lamantea, Eleonora, Ghezzi, Daniele, Catania, Alessia, Lamperti, Costanza
Published in Orphanet journal of rare diseases (16.05.2024)
Published in Orphanet journal of rare diseases (16.05.2024)
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Journal Article
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Journal Article
Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
Moscatelli, Marco, Ardissone, Anna, Lamantea, Eleonora, Zorzi, Giovanna, Bruno, Claudio, Moroni, Isabella, Erbetta, Alessandra, Chiapparini, Luisa
Published in Neurological sciences (01.03.2022)
Published in Neurological sciences (01.03.2022)
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Journal Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella
Published in Orphanet journal of rare diseases (09.10.2021)
Published in Orphanet journal of rare diseases (09.10.2021)
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Journal Article
PHEMI—Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open–Label Trial
Marchet, Silvia, Catania, Alessia, Ardissone, Anna, Montano, Vincenzo, Einvag, Krisztina, Iermito, Maria Pia, Sala, Daniele, Spagnolo, Manuela, Mauro, Elena, Lamantea, Eleonora, Cecchi, Giulia, Lopriore, Piervito, Mancuso, Michelangelo, Lamperti, Costanza
Published in Clinical therapeutics (01.05.2025)
Published in Clinical therapeutics (01.05.2025)
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Journal Article
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele
Published in Orphanet journal of rare diseases (04.04.2018)
Published in Orphanet journal of rare diseases (04.04.2018)
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Journal Article
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
Alahmad, Ahmad, Nasca, Alessia, Heidler, Juliana, Thompson, Kyle, Oláhová, Monika, Legati, Andrea, Lamantea, Eleonora, Meisterknecht, Jana, Spagnolo, Manuela, He, Langping, Alameer, Seham, Hakami, Fahad, Almehdar, Abeer, Ardissone, Anna, Alston, Charlotte L, McFarland, Robert, Wittig, Ilka, Ghezzi, Daniele, Taylor, Robert W
Published in EMBO molecular medicine (06.11.2020)
Published in EMBO molecular medicine (06.11.2020)
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Journal Article
Bioinformatics Tools for NGS-Based Identification of Single Nucleotide Variants and Large-Scale Rearrangements in Mitochondrial DNA
Barresi, Marco, Dal Santo, Giulia, Izzo, Rossella, Zauli, Andrea, Lamantea, Eleonora, Caporali, Leonardo, Ghezzi, Daniele, Legati, Andrea
Published in Biotech (Basel) (12.02.2025)
Published in Biotech (Basel) (12.02.2025)
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Journal Article
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry
Cesareo, Massimo, Ciuffoletti, Elena, Martucci, Alessio, Sebastiani, Jacopo, Sorge, Roberto Pietro, Lamantea, Eleonora, Garavaglia, Barbara, Ricci, Federico, Cusumano, Andrea, Nucci, Carlo, Brancati, Francesco
Published in PloS one (30.03.2017)
Published in PloS one (30.03.2017)
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Journal Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele
Published in Orphanet journal of rare diseases (12.05.2017)
Published in Orphanet journal of rare diseases (12.05.2017)
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Journal Article
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
Orthmann-Murphy, Jennifer L., Salsano, Ettore, Abrams, Charles K., Bizzi, Alberto, Uziel, Graziella, Freidin, Mona M., Lamantea, Eleonora, Zeviani, Massimo, Scherer, Steven S., Pareyson, Davide
Published in Brain (London, England : 1878) (01.02.2009)
Published in Brain (London, England : 1878) (01.02.2009)
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Journal Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
Peverelli, Lorenzo, Catania, Alessia, Marchet, Silvia, Ciasca, Paola, Cammarata, Gabriella, Melzi, Lisa, Bellino, Antonella, Fancellu, Roberto, Lamantea, Eleonora, Capristo, Mariantonietta, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Ghezzi, Daniele, Bianchi Marzoli, Stefania, Lamperti, Costanza
Published in Frontiers in neurology (09.06.2021)
Published in Frontiers in neurology (09.06.2021)
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Journal Article
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele
Published in Journal of human genetics (01.05.2018)
Published in Journal of human genetics (01.05.2018)
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Journal Article
Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
Biancheri, Roberta, Rosano, Camillo, Denegri, Laura, Lamantea, Eleonora, Pinto, Francesca, Lanza, Federica, Severino, Mariasavina, Filocamo, Mirella
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
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Journal Article
Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis
Moutaoufik, Mohamed Taha, Malty, Ramy, Amin, Shahreen, Zhang, Qingzhou, Phanse, Sadhna, Gagarinova, Alla, Zilocchi, Mara, Hoell, Larissa, Minic, Zoran, Gagarinova, Maria, Aoki, Hiroyuki, Stockwell, Jocelyn, Jessulat, Matthew, Goebels, Florian, Broderick, Kirsten, Scott, Nichollas E., Vlasblom, James, Musso, Gabriel, Prasad, Bhanu, Lamantea, Eleonora, Garavaglia, Barbara, Rajput, Alex, Murayama, Kei, Okazaki, Yasushi, Foster, Leonard J., Bader, Gary D., Cayabyab, Francisco S., Babu, Mohan
Published in iScience (27.09.2019)
Published in iScience (27.09.2019)
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Journal Article
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
Zambon, Alberto A., Ghezzi, Daniele, Baldoli, Cristina, Cutillo, Gianni, Fontana, Katia, Sofia, Valentina, Patricelli, Maria Grazia, Nasca, Alessia, Vinci, Stefano, Spiga, Ivana, Lamantea, Eleonora, Fanelli, Giovanna F., Sora, Maria Grazia Natali, Rovelli, Rosanna, Poloniato, Antonella, Carrera, Paola, Filippi, Massimo, Barera, Graziano
Published in Annals of clinical and translational neurology (01.10.2023)
Published in Annals of clinical and translational neurology (01.10.2023)
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Journal Article