The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

Autor Diodato, Daria, Ghezzi, Daniele, Tiranti, Valeria
Vydáno 2014

S1.1 Introductory notes to Pompe disease and aims of the Meeting

Autor Sampaolo, Simone, Simonetti, Margherita, Farina, Olimpia, Cipullo, Federica, Diodato, Daria
Vydáno 2011

The mitochondrial brain: From mitochondrial genome to neurodegeneration

Autor Turnbull, Helen E., Lax, Nichola Z., Diodato, Daria, Ansorge, Olaf, Turnbull, Doug M.
Vydáno 2010

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Autor Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo
Vydáno v Orphanet J Rare Dis (2015)

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

Autor Ardissone, Anna, Granata, Tiziana, Legati, Andrea, Diodato, Daria, Melchionda, Laura, Lamantea, Eleonora, Garavaglia, Barbara, Ghezzi, Daniele, Moroni, Isabella
Vydáno v JIMD Rep (2015)

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Autor Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
Vydáno v Orphanet J Rare Dis (2019)

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

Autor Formicola, Daniela, Aloia, Andrea, Sampaolo, Simone, Farina, Olimpia, Diodato, Daria, Griffiths, Lyn R, Gianfrancesco, Fernando, Di Iorio, Giuseppe, Esposito, Teresa
Vydáno 2010

Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilanc...

Autor Nortier, Joëlle L., Remiche, Gauthier, Delrée, Paul, Nauta, Jeroen, Notermans, Nicolette C., Vivarelli, Marina, Diodato, Daria, Solé, Guilhem, Debiec, Hanna, Ronco, Pierre
Vydáno v Kidney Int Rep (2021)

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Autor Esposito, Teresa, Sampaolo, Simone, Limongelli, Giuseppe, Varone, Antonio, Formicola, Daniela, Diodato, Daria, Farina, Olimpia, Napolitano, Filomena, Pacileo, Giuseppe, Gianfrancesco, Fernando, Di Iorio, Giuseppe
Vydáno 2013

Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

Autor Pasquini, Luca, Guarnera, Alessia, Rossi-Espagnet, Maria Camilla, Napolitano, Antonio, Martinelli, Diego, Deodato, Federica, Diodato, Daria, Carrozzo, Rosalba, Dionisi-Vici, Carlo, Longo, Daniela
Vydáno v Neuroradiology (2020)

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

Autor Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Vydáno v Mol Genet Metab Rep (2016)

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 M...

Autor Biancheri, Roberta, Lamantea, Eleonora, Severino, Mariasavina, Diodato, Daria, Pedemonte, Marina, Cassandrini, Denise, Ploederl, Alexandra, Trucco, Federica, Fiorillo, Chiara, Minetti, Carlo, Santorelli, Filippo M., Zeviani, Massimo, Bruno, Claudio
Vydáno v JIMD Rep (2015)

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Autor Sampaolo, Simone, Esposito, Teresa, Farina, Olimpia, Formicola, Daniela, Diodato, Daria, Gianfrancesco, Fernando, Cipullo, Federica, Cremone, Gaetana, Cirillo, Mario, Del Viscovo, Luca, Toscano, Antonio, Angelini, Corrado, Di Iorio, Giuseppe
Vydáno 2013

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Autor Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Vydáno v BMC Med Genet (2019)

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

Autor Di Nottia, Michela, Montanari, Arianna, Verrigni, Daniela, Oliva, Romina, Torraco, Alessandra, Fernandez-Vizarra, Erika, Diodato, Daria, Rizza, Teresa, Bianchi, Marzia, Catteruccia, Michela, Zeviani, Massimo, Dionisi-Vici, Carlo, Francisci, Silvia, Bertini, Enrico, Carrozzo, Rosalba
Vydáno v Biochim Biophys Acta (2017)

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

Autor 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
Vydáno v J Hum Genet (2018)

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Autor Diodato, Daria, Tasca, Giorgio, Verrigni, Daniela, D'Amico, Adele, Rizza, Teresa, Tozzi, Giulia, Martinelli, Diego, Verardo, Margherita, Invernizzi, Federica, Nasca, Alessia, Bellacchio, Emanuele, Ghezzi, Daniele, Piemonte, Fiorella, Dionisi-Vici, Carlo, Carrozzo, Rosalba, Bertini, Enrico
Vydáno v Eur J Hum Genet (2016)

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Autor Diodato, Daria, Invernizzi, Federica, Lamantea, Eleonora, Fagiolari, Gigliola, Parini, Rossella, Menni, Francesca, Parenti, Giancarlo, Bollani, Lina, Pasquini, Elisabetta, Donati, Maria A., Cassandrini, Denise, Santorelli, Filippo M., Haack, Tobias B., Prokisch, Holger, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Vydáno v JIMD Rep (2014)

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

Autor Diodato, Daria, Melchionda, Laura, Haack, Tobias B, Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A, Minczuk, Michal, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele
Vydáno 2014

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Autor Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Vydáno v J Inherit Metab Dis (2016)