Works matching AU Dionisi-Vici, Carlo

Results: 158
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    Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

    Published in:
    Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
    By:
    • Ferreira, Mariana;
    • Torraco, Alessandra;
    • Rizza, Teresa;
    • Fattori, Fabiana;
    • Meschini, Maria;
    • Castana, Cinzia;
    • Go, Nancy;
    • Nargang, Frank;
    • Duarte, Margarida;
    • Piemonte, Fiorella;
    • Dionisi-Vici, Carlo;
    • Videira, Arnaldo;
    • Vilarinho, Laura;
    • Santorelli, Filippo;
    • Carrozzo, Rosalba;
    • Bertini, Enrico
    Publication type:
    Article
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    Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

    Published in:
    Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
    By:
    • Torraco, Alessandra;
    • Nasca, Alessia;
    • Verrigni, Daniela;
    • Pennisi, Alessandra;
    • Zaki, Maha S.;
    • Olivieri, Giorgia;
    • Assouline, Zahra;
    • Martinelli, Diego;
    • Maroofian, Reza;
    • Rizza, Teresa;
    • Di Nottia, Michela;
    • Invernizzi, Federica;
    • Lamantea, Eleonora;
    • Longo, Daniela;
    • Houlden, Henry;
    • Prokisch, Holger;
    • Rötig, Agnès;
    • Dionisi‐Vici, Carlo;
    • Bertini, Enrico;
    • Ghezzi, Daniele
    Publication type:
    Article
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    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

    Published in:
    Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155
    By:
    • Smith, Holly;
    • Galmes, Romain;
    • Gogolina, Ekaterina;
    • Straatman-Iwanowska, Anna;
    • Reay, Kim;
    • Banushi, Blerida;
    • Bruce, Christopher K.;
    • Cullinane, Andrew R.;
    • Romero, Rene;
    • Chang, Richard;
    • Ackermann, Oanez;
    • Baumann, Clarisse;
    • Cangul, Hakan;
    • Cakmak Celik, Fatma;
    • Aygun, Canan;
    • Coward, Richard;
    • Dionisi-Vici, Carlo;
    • Sibbles, Barbara;
    • Inward, Carol;
    • Ae Kim, Chong
    Publication type:
    Article
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    RFT1 deficiency in three novel CDG patients.

    Published in:
    Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
    By:
    • Vleugels, Wendy;
    • Haeuptle, Micha A.;
    • Ng, Bobby G.;
    • Michalski, Jean-Claude;
    • Battini, Roberta;
    • Dionisi-Vici, Carlo;
    • Ludman, Mark D.;
    • Jaeken, Jaak;
    • Foulquier, François;
    • Freeze, Hudson H.;
    • Matthijs, Gert;
    • Hennet, Thierry
    Publication type:
    Article
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    Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.

    Published in:
    Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930
    By:
    • Tessa, Alessandra;
    • Fiermonte, Giuseppe;
    • Dionisi-Vici, Carlo;
    • Paradies, Eleonora;
    • Baumgartner, Matthias R.;
    • Chien, Yin-Hsiu;
    • Loguercio, Carmela;
    • de Baulny, Helene Ogier;
    • Nassogne, Marie-Cecile;
    • Schiff, Manuel;
    • Deodato, Federica;
    • Parenti, Giancarlo;
    • Lane Rutledge, S.;
    • Antonia Vilaseca, M.;
    • Melone, Mariarosa A.B.;
    • Scarano, Gioacchino;
    • Aldamiz-Echevarría, Luiz;
    • Besley, Guy;
    • Walter, John;
    • Martinez-Hernandez, Eugenia
    Publication type:
    Article
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    Gender-related effects on urine l-cystine metastability.

    Published in:
    Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9
    By:
    • Masotti, Andrea;
    • Laurenzi, Chiara;
    • Boenzi, Sara;
    • Pastore, Anna;
    • Taranta, Anna;
    • Bellomo, Francesco;
    • Muraca, Maurizio;
    • Dionisi-Vici, Carlo;
    • Bertucci, Pierfrancesco;
    • Strologo, Luca;
    • Emma, Francesco
    Publication type:
    Article
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    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047
    By:
    • Ruoppolo, Margherita;
    • Malvagia, Sabrina;
    • Boenzi, Sara;
    • Carducci, Carla;
    • Dionisi-Vici, Carlo;
    • Teofoli, Francesca;
    • Burlina, Alberto;
    • Angeloni, Antonio;
    • Aronica, Tommaso;
    • Bordugo, Andrea;
    • Bucci, Ines;
    • Camilot, Marta;
    • Carbone, Maria Teresa;
    • Cardinali, Roberta;
    • Carducci, Claudia;
    • Cassanello, Michela;
    • Castana, Cinzia;
    • Cazzorla, Chiara;
    • Ciatti, Renzo;
    • Ferrari, Simona
    Publication type:
    Article
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    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

    Published in:
    PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0214250
    By:
    • Kahn-Kirby, Amanda H.;
    • Amagata, Akiko;
    • Maeder, Celine I.;
    • Mei, Janet J.;
    • Sideris, Steve;
    • Kosaka, Yuko;
    • Hinman, Andrew;
    • Malone, Stephanie A.;
    • Bruegger, Joel J.;
    • Wang, Leslie;
    • Kim, Virna;
    • Shrader, William D.;
    • Hoff, Kevin G.;
    • Latham, Joey C.;
    • Ashley, Euan A.;
    • Wheeler, Matthew T.;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Martinelli, Diego;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

    Published in:
    Nature Genetics, 2013, v. 45, n. 1, p. 83, doi. 10.1038/ng.2497
    By:
    • Cullup, Thomas;
    • Kho, Ay Lin;
    • Dionisi-Vici, Carlo;
    • Brandmeier, Birgit;
    • Smith, Frances;
    • Urry, Zoe;
    • Simpson, Michael A;
    • Yau, Shu;
    • Bertini, Enrico;
    • McClelland, Verity;
    • Al-Owain, Mohammed;
    • Koelker, Stefan;
    • Koerner, Christian;
    • Hoffmann, Georg F;
    • Wijburg, Frits A;
    • Hoedt, Amber E ten;
    • Rogers, R Curtis;
    • Manchester, David;
    • Miyata, Rie;
    • Hayashi, Masaharu
    Publication type:
    Article
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    Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3839, doi. 10.3390/ijms26083839
    By:
    • Fuenzalida, Karen;
    • Leal-Witt, María Jesús;
    • Acevedo, Alejandro;
    • Muñoz, Manuel;
    • Gudenschwager, Camila;
    • Arias, Carolina;
    • Cabello, Juan Francisco;
    • La Marca, Giancarlo;
    • Rizzo, Cristiano;
    • Pietrobattista, Andrea;
    • Spada, Marco;
    • Dionisi-Vici, Carlo;
    • Cornejo, Verónica
    Publication type:
    Article
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    Use of Antibiotics in Preterm Newborns.

    Published in:
    Antibiotics (2079-6382), 2022, v. 11, n. 9, p. 1142, doi. 10.3390/antibiotics11091142
    By:
    • Simeoli, Raffaele;
    • Cairoli, Sara;
    • Decembrino, Nunzia;
    • Campi, Francesca;
    • Dionisi Vici, Carlo;
    • Corona, Alberto;
    • Goffredo, Bianca Maria
    Publication type:
    Article
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    Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
    By:
    • Baban, Anwar;
    • Adorisio, Rachele;
    • Corica, Bernadette;
    • Rizzo, Cristiano;
    • Calì, Federica;
    • Semeraro, Michela;
    • Taurisano, Roberta;
    • Magliozzi, Monia;
    • Carrozzo, Rosalba;
    • Parisi, Francesco;
    • Dallapiccola, Bruno;
    • Vaz, Frédéric M.;
    • Drago, Fabrizio;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Immunodeficiency in Vici syndrome: A heterogeneous phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 434, doi. 10.1002/ajmg.a.34244
    By:
    • Finocchi, Andrea;
    • Angelino, Giulia;
    • Cantarutti, Nicoletta;
    • Corbari, Maurizio;
    • Bevivino, Elsa;
    • Cascioli, Simona;
    • Randisi, Francesco;
    • Bertini, Enrico;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Galactose epimerase deficiency: lessons from the GalNet registry.

    Published in:
    2022
    By:
    • Derks, Britt;
    • Demirbas, Didem;
    • Arantes, Rodrigo R.;
    • Banford, Samantha;
    • Burlina, Alberto B.;
    • Cabrera, Analía;
    • Chiesa, Ana;
    • Couce, M. Luz;
    • Dionisi-Vici, Carlo;
    • Gautschi, Matthias;
    • Grünewald, Stephanie;
    • Morava, Eva;
    • Möslinger, Dorothea;
    • Scholl-Bürgi, Sabine;
    • Skouma, Anastasia;
    • Stepien, Karolina M.;
    • Timson, David J.;
    • Berry, Gerard T.;
    • Rubio-Gozalbo, M. Estela
    Publication type:
    journal article
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    LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

    Published in:
    2016
    By:
    • Dallabona, Cristina;
    • Abbink, Truus E. M.;
    • Carrozzo, Rosalba;
    • Torraco, Alessandra;
    • Legati, Andrea;
    • van Berkel, Carola G. M.;
    • Niceta, Marcello;
    • Langella, Tiziana;
    • Verrigni, Daniela;
    • Rizza, Teresa;
    • Diodato, Daria;
    • Piemonte, Fiorella;
    • Lamantea, Eleonora;
    • Fang, Mingyan;
    • Zhang, Jianguo;
    • Martinelli, Diego;
    • Bevivino, Elsa;
    • Dionisi-Vici, Carlo;
    • Vanderver, Adeline;
    • Philip, Sunny G.
    Publication type:
    journal article
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    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 872, doi. 10.1093/brain/awt012
    By:
    • Martinelli, Diego;
    • Travaglini, Lorena;
    • Drouin, Christian A.;
    • Ceballos-Picot, Irene;
    • Rizza, Teresa;
    • Bertini, Enrico;
    • Carrozzo, Rosalba;
    • Petrini, Stefania;
    • de Lonlay, Pascale;
    • El Hachem, Maya;
    • Hubert, Laurence;
    • Montpetit, Alexandre;
    • Torre, Giuliano;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Published in:
    Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389
    By:
    • Rosalba Carrozzo;
    • Carlo Dionisi-Vici;
    • Ulrike Steuerwald;
    • Simona Lucioli;
    • Federica Deodato;
    • Sivia Di Giandomenico;
    • Enrico Bertini;
    • Barbara Franke;
    • Leo A. J. Kluijtmans;
    • Maria Chiara Meschini;
    • Cristiano Rizzo;
    • Fiorella Piemonte;
    • Richard Rodenburg;
    • René Santer;
    • Filippo M. Santorelli;
    • Arno van Rooij;
    • Diana Vermunt-de Koning;
    • Eva Morava;
    • Ron A. Wevers
    Publication type:
    Article
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    Hypoglycaemia Metabolic Gene Panel Testing.

    Published in:
    Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.826167
    By:
    • Maiorana, Arianna;
    • Lepri, Francesca Romana;
    • Novelli, Antonio;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Vici syndrome: a review.

    Published in:
    2016
    By:
    • Byrne, Susan;
    • Dionisi-Vici, Carlo;
    • Smith, Luke;
    • Gautel, Mathias;
    • Jungbluth, Heinz
    Publication type:
    journal article