Sfoglia per Autore
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Akira, I; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations (Journal of Clinical Immunology, (2023), 43, 8, (2115-2125), 10.1007/s10875-023-01584-7)
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Ishiguro, A; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy
2021 Pareyson, D; Pantaleoni, C; Eleopra, R; De Filippis, G; Moroni, I; Freri, E; Zibordi, F; Bulgheroni, S; Pagliano, E; Sarti, D; Silvani, A; Grazzi, L; Tiraboschi, P; Didato, G; Anghileri, E; Bersano, A; Valentini, L; Piacentini, S; Muscio, C; Leonardi, M; Mariotti, C; Eoli, M; Nuzzo, S; Tagliavini, F; Confalonieri, P; De Giorgi, F; Antozzi, C; Ardissone, A; Bersano, E; Boncoraglio, G; Bonvegna, S; Botturi, A; Brambilla, L; Canafoglia, L; Caputi, L; Caroppo, P; Carriero, M; Casali, C; Casazza, M; Catania, A; Ciaccio, C; Cilia, R; Dallabella, E; D'Amico, D; Danti, F; D'Arrigo, S; Decurtis, M; Deleo, F; Devigili, G; Difede, G; Digiacomo, R; Elia, A; Esposito, S; Estienne, M; Fenu, S; Fichera, M; Finocchiaro, G; Frangiamore, R; Gatti, M; Gaviani, P; Giaccone, G; Giani, L; Giovagnoli, A; Andreasi, N; Granata, T; Granocchio, E; Lamperti, C; Lamperti, E; Leone, M; Masson, R; Nanetti, L; Nardocci, N; Pastori, C; Pisciotta, C; Cecchini, A; Ragona, F; Redaelli, V; Saletti, V; Salsano, E; Scelzo, E; Solazzi, R; Tozzo, A; Usai, S; Zorzi, G; Arnoldi, M; Foscan, M; Marchi, A; Pedrinelli, I; Zanin, R; Gazzola, S; Magazu, S; Scopelliti, M; Casalino, T; Desalvatore, M; Mazzanti, S; Taddei, M; Fedeli, A; Sattin, D; Galimberti, L; Zagari, R; Bombonato, M; Fonte, L; Floridia, S
Mitochondrial diseases related to mtDNA in childhood: genotype-phenotype correlation and characterization of novel phenotypes
2020 Ardissone, A
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?
2018 Repp, B; Mastantuono, E; Alston, C; Schiff, M; Haack, T; Rötig, A; Ardissone, A; Lombès, A; Catarino, C; Diodato, D; Schottmann, G; Poulton, J; Burlina, A; Jonckheere, A; Munnich, A; Rolinski, B; Ghezzi, D; Rokicki, D; Wellesley, D; Martinelli, D; Wenhong, D; Lamantea, E; Ostergaard, E; Pronicka, E; Pierre, G; Smeets, H; Wittig, I; Scurr, I; De Coo, I; Moroni, I; Smet, J; Mayr, J; Dai, L; De Meirleir, L; Schuelke, M; Zeviani, M; Morscher, R; Mcfarland, R; Seneca, S; Klopstock, T; Meitinger, T; Wieland, T; Strom, T; Herberg, U; Ahting, U; Sperl, W; Nassogne, M; Ling, H; Fang, F; Freisinger, P; Van Coster, R; Strecker, V; Taylor, R; Häberle, J; Vockley, J; Prokisch, H; Wortmann, S
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
2018 Catania, A; Ardissone, A; Verrigni, D; Legati, A; Reyes, A; Lamantea, E; Diodato, D; Tonduti, D; Imperatore, V; Pinto, A; Moroni, I; Bertini, E; Robinson, A; Carrozzo, R; Zeviani, M; Ghezzi, D
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders
2018 Rizzo, A; Alfei, E; Zibordi, F; Saletti, V; Zorzi, G; Freri, E; Estienne, M; Girgenti, V; D'Arrigo, S; Esposito, S; Buldrini, B; Moroni, I; Milani, D; Granata, T; Ardissone, A; Eoli, M; Molteni, B; Bigoni, S; Pantaleoni, C; Nardocci, N; Sciacca, F
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults
2018 Charif, M; Nasca, A; Thompson, K; Gerber, S; Makowski, C; Mazaheri, N; Bris, C; Goudenège, D; Legati, A; Maroofian, R; Shariati, G; Lamantea, E; Hopton, S; Ardissone, A; Moroni, I; Giannotta, M; Siegel, C; Strom, T; Prokisch, H; Vignal-Clermont, C; Derrien, S; Zanlonghi, X; Kaplan, J; Hamel, C; Leruez, S; Procaccio, V; Bonneau, D; Reynier, P; White, F; Hardy, S; Barbosa, I; Simpson, M; Vara, R; Trujillo, Y; Galehdari, H; Deshpande, C; Haack, T; Rozet, J; Taylor, R; Ghezzi, D; Amati-Bonneau, P; Lenaers, G
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
2018 Bruni, F; Di Meo, I; Bellacchio, E; Webb, B; Mcfarland, R; Chrzanowska-Lightowlers, Z; He, L; Skorupa, E; Moroni, I; Ardissone, A; Walczak, A; Tyynismaa, H; Isohanni, P; Mandel, H; Prokisch, H; Haack, T; Bonnen, P; Enrico, B; Pronicka, E; Ghezzi, D; Taylor, R; Diodato, D
KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
2018 Ardissone, A; Tonduti, D; Legati, A; Lamantea, E; Barone, R; Dorboz, I; Boespflug-Tanguy, O; Nebbia, G; Maggioni, M; Garavaglia, B; Moroni, I; Farina, L; Pichiecchio, A; Orcesi, S; Chiapparini, L; Ghezzi, D
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
2017 Orsucci, D; Angelini, C; Bertini, E; Carelli, V; Comi, G; Federico, A; Minetti, C; Moggio, M; Mongini, T; Santorelli, F; Servidei, S; Tonin, P; Ardissone, A; Bello, L; Bruno, C; Ienco, E; Diodato, D; Filosto, M; Lamperti, C; Moroni, I; Musumeci, O; Pegoraro, E; Primiano, G; Ronchi, D; Rubegni, A; Salvatore, S; Sciacco, M; Valentino, M; Vercelli, L; Toscano, A; Zeviani, M; Siciliano, G; Mancuso, M
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
2017 Nasca, A; Rizza, T; Doimo, M; Legati, A; Ciolfi, A; Diodato, D; Calderan, C; Carrara, G; Lamantea, E; Aiello, C; Di Nottia, M; Niceta, M; Lamperti, C; Ardissone, A; Bianchi-Marzoli, S; Iarossi, G; Bertini, E; Moroni, I; Tartaglia, M; Salviati, L; Carrozzo, R; Ghezzi, D
SEPN1-related myopathy in three patients: novel mutations and diagnostic clues
2016 Ardissone, A; Bragato, C; Blasevich, F; Maccagnano, E; Salerno, F; Gandioli, C; Morandi, L; Mora, M; Moroni, I
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
2016 Dallabona, C; Abbink, T; Carrozzo, R; Torraco, A; Legati, A; Van Berkel, C; Niceta, M; Langella, T; Verrigni, D; Rizza, T; Diodato, D; Piemonte, F; Lamantea, E; Fang, M; Zhang, J; Martinelli, D; Bevivino, E; Dionisi-Vici, C; Vanderver, A; Philip, S; Kurian, M; Verma, I; Bijarnia-Mahay, S; Jacinto, S; Furtado, F; Accorsi, P; Ardissone, A; Moroni, I; Ferrero, I; Tartaglia, M; Goffrini, P; Ghezzi, D; Van Der Knaap, M; Bertini, E
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
2016 Legati, A; Reyes, A; Nasca, A; Invernizzi, F; Lamantea, E; Tiranti, V; Garavaglia, B; Lamperti, C; Ardissone, A; Moroni, I; Robinson, A; Ghezzi, D; Zeviani, M
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
2015 Ardissone, A; Piscosquito, G; Legati, A; Langella, T; Lamantea, E; Garavaglia, B; Salsano, E; Farina, L; Moroni, I; Pareyson, D; Ghezzi, D
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance
2015 Ardissone, A; Invernizzi, F; Nasca, A; Moroni, I; Farina, L; Ghezzi, D
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations
2014 Invernizzi, F; Ardissone, A; Lamantea, E; Garavaglia, B; Zeviani, M; Farina, L; Ghezzi, D; Moroni, I
Mitochondrial dysfunction in central nervous system white matter disorders
2014 Morató, L; Bertini, E; Verrigni, D; Ardissone, A; Ruiz, M; Ferrer, I; Uziel, G; Pujol, A
Mitochondrial diseases in childhood
2014 Ardissone, A; Lamantea, E; Invernizzi, F; Zeviani, M; Genitrini, S; Moroni, I; Uziel, G
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