The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

by Daria Diodato, Daniele Ghezzi, Valeria Tiranti
Published 2014-01-01

Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi
Published 2018-12-01

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

by Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi
Published 2015-12-01

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

by Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani
Published 2018-10-01

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

by Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A. Bindoff, Daniele Ghezzi, Massimo Zeviani
Published 2021-07-01

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants

by Lorenzo Peverelli, Lorenzo Peverelli, Alessia Catania, Silvia Marchet, Paola Ciasca, Gabriella Cammarata, Lisa Melzi, Antonella Bellino, Roberto Fancellu, Eleonora Lamantea, Mariantonietta Capristo, Leonardo Caporali, Chiara La Morgia, Chiara La Morgia, Valerio Carelli, Valerio Carelli, Daniele Ghezzi, Daniele Ghezzi, Stefania Bianchi Marzoli, Costanza Lamperti
Published 2021-06-01

The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria

by Laura Martorano, Margherita Peron, Claudio Laquatra, Elisa Lidron, Nicola Facchinello, Giacomo Meneghetti, Natascia Tiso, Andrea Rasola, Daniele Ghezzi, Francesco Argenton
Published 2019-03-01

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

by Claudia Ciaccio, Chiara Pantaleoni, Franco Taroni, Daniela Di Bella, Stefania Magri, Eleonora Lamantea, Daniele Ghezzi, Enza Maria Valente, Vincenzo Nigro, Stefano D’Arrigo
Published 2021-03-01

Ionized jet deposition of antimicrobial and stem cell friendly silver-substituted tricalcium phosphate nanocoatings on titanium alloy

by Gabriela Graziani, Katia Barbaro, Inna V. Fadeeva, Daniele Ghezzi, Marco Fosca, Enrico Sassoni, Gianluca Vadalà, Martina Cappelletti, Francesco Valle, Nicola Baldini, Julietta V. Rau
Published 2021-08-01

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

by Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez‐Vizarra, Massimo Zeviani
Published 2019-01-01

Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

by Roberta Peruzzo, Samantha Corrà, Roberto Costa, Michele Brischigliaro, Tatiana Varanita, Lucia Biasutto, Chiara Rampazzo, Daniele Ghezzi, Luigi Leanza, Mario Zoratti, Massimo Zeviani, Cristiano De Pittà, Carlo Viscomi, Rodolfo Costa, Ildikò Szabò
Published 2021-04-01

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

by Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Published 2018-04-01

Geomicrobiology of a seawater-influenced active sulfuric acid cave.

by Ilenia M D'Angeli, Daniele Ghezzi, Stefan Leuko, Andrea Firrincieli, Mario Parise, Adriano Fiorucci, Bartolomeo Vigna, Rosangela Addesso, Daniela Baldantoni, Cristina Carbone, Ana Zelia Miller, Valme Jurado, Cesareo Saiz-Jimenez, Jo De Waele, Martina Cappelletti
Published 2019-01-01

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

by Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Published 2021-10-01

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Published 2020-11-01

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

by Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco, Romina Oliva, Erika Fernandez-Vizarra, Federica Morani, Giulia Trani, Teresa Rizza, Daniele Ghezzi, Anna Ardissone, Claudia Nesti, Gessica Vasco, Massimo Zeviani, Michal Minczuk, Enrico Bertini, Filippo Maria Santorelli, Rosalba Carrozzo
Published 2020-07-01

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

by Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Published 2017-05-01

Genetic diagnosis of Mendelian disorders via RNA sequencing

by Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Published 2017-06-01

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

by Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Published 2018-07-01