Sfoglia per Autore
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
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
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
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
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
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
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
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
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
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
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
Identification and characterization of nuclear genes responsible for human mitochondrial disorders: fastkd2, responsible for a neurological disease associated with cox defiency and sdhaf1, encoding a complex II assembly, mutated in SDH-defective leukoencephalopaty
2009 Ghezzi, D
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