CARELLI, VALERIO

CARELLI, VALERIO  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

Docenti di ruolo di Ia fascia  

Carelli V; Valerio Carelli; V CARELLI  

Mostra records
Risultati 1 - 20 di 411 (tempo di esecuzione: 0.036 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna M...aria; Carta, Arturo; Parisi, Vincenzo; Di Renzo, Antonio; Schiavi, Costantino; Lenzetti, Chiara; Zenesini, Corrado; Ormanbekova, Danara; Palombo, Flavia; Fiorini, Claudio; Caporali, Leonardo; Carelli, Valerio; Barboni, Piero; La Morgia, Chiara 2024-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista -
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep Licchetta L.; Di Giorgi L.; Santucci M.; Taruffi L.; Stipa C.; Minardi R.; Carelli V.; Bisulli F. 2024-01-01 MOLECULAR GENETICS & GENOMIC MEDICINE - 1.01 Articolo in rivista Molec Gen Gen Med - 2023 - Licchetta - Biallelic pathogenic variants of PARS2 cause developmental and epileptic.pdf
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Gr...ippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina 2024-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy Aleo S.J.; Del Dotto V.; Romagnoli M.; Fiorini C.; Capirossi G.; Peron C.; Maresca A.; Caporali L....; Capristo M.; Tropeano C.V.; Zanna C.; Ross-Cisneros F.N.; Sadun A.A.; Pignataro M.G.; Giordano C.; Fasano C.; Cavaliere A.; Porcelli A.M.; Tioli G.; Musiani F.; Catania A.; Lamperti C.; Marzoli S.B.; De Negri A.; Cascavilla M.L.; Battista M.; Barboni P.; Carbonelli M.; Amore G.; La Morgia C.; Smirnov D.; Vasilescu C.; Farzeen A.; Blickhaeuser B.; Prokisch H.; Priglinger C.; Livonius B.; Catarino C.B.; Klopstock T.; Tiranti V.; Carelli V.; Ghelli A.M. 2024-01-01 CELL REPORTS MEDICINE - 1.01 Articolo in rivista 2024 - Aleo - Idebenone and NQO1 - Cell reports Medicine.pdf
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.;... Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E. 2024-01-01 NPJ GENOMIC MEDICINE - 1.01 Articolo in rivista -
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm Barboni, Piero; Battista, Marco; Brotto, Luigi; Nucci, Paolo; Checchin, Lisa; Bandello, Francesco...; Fiorini, Claudio; Ormanbekova, Danara; Carelli, Valerio; Cascavilla, Maria Lucia; Caporali, Leonardo 2024-01-01 JOURNAL OF NEURO-OPHTHALMOLOGY - 1.01 Articolo in rivista -
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation Giannini, Giulia; Minardi, Raffaella; Barletta, Giorgio; Cani, Ilaria; Cecere, Annagrazia; Baldel...li, Luca; Fiorentino, Alessia; Guaraldi, Pietro; Sambati, Luisa; Capellari, Sabina; Cortelli, Pietro; Carelli, Valerio; Calandra-Buonaura, Giovanna 2024-01-01 JOURNAL OF PARKINSON'S DISEASE - 1.01 Articolo in rivista -
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy Southwell N.; Primiano G.; Nadkarni V.; Attarwala N.; Beattie E.; Miller D.; Alam S.; Liparulo I....; Shurubor Y.I.; Valentino M.L.; Carelli V.; Servidei S.; Gross S.S.; Manfredi G.; Chen Q.; D'Aurelio M. 2023-01-01 EMBO MOLECULAR MEDICINE - 1.01 Articolo in rivista southwell-et-al-2023.pdfemmm202216951-sup-0002-sdataev.zip
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights Barboni, Piero; La Morgia, Chiara; Cascavilla, Maria Lucia; Hong, Eun Hee; Battista, Marco; Majan...der, Anna; Caporali, Leonardo; Starace, Vincenzo; Amore, Giulia; Renzo, Antonio Di; Carbonelli, Michele; Nucci, Paolo; Jurkute, Neringa; Chen, Benson S; Panebianco, Roberta; De Negri, Anna Maria; Sadun, Federico; Parisi, Vincenzo; Bandello, Francesco; Sadun, Alfredo A; Carelli, Valerio; Yu-Wai-Man, Patrick 2023-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista ScienceDirect_files_08Nov2023_12-17-04.267.zip1-s2.0-S0002939422005013-main.pdf
Choroidal vascularity index in hereditary optic neuropathies Battista, Marco; Cascavilla, Maria Lucia; Borrelli, Enrico; Barresi, Costanza; Lari, Giorgio; Cap...orali, Leonardo; Viganò, Chiara; Berni, Alessandro; Carelli, Valerio; Bandello, Francesco; Barboni, Piero 2023-01-01 EYE - 1.01 Articolo in rivista -
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review Romagnoli, Martina; Amore, Giulia; Avanzini, Pietro; Carelli, Valerio; La Morgia, Chiara 2023-01-01 FRONTIERS IN PSYCHOLOGY - 1.01 Articolo in rivista Romagnoli_2024.pdf
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, B...artoletti-Stella A, Capellari S, Liguori R, Carelli V 2023-01-01 JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista amore g_JoN2022.pdf
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H; Enns, Gregory M; Falk, Marni J; G...oldstein, Amy; Gorman, Gráinne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D S; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L K; Vissing, John; Vockley, Jerry; Finman, Jeffrey S; Brown, David A; Shiffer, James A; Mancuso, Michelangelo; MMPOWER-3 Trial Investigators 2023-01-01 NEUROLOGY - 1.01 Articolo in rivista WNL.0000000000207402.pdf
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder Pietra, Andrea; Palombo, Flavia; Giannotta, Melania; Maffei, Monica; Fiorini, Claudio; Costa, Rob...erta; Cenacchi, Giovanna; Carelli, Valerio; Cordelli, Duccio Maria; Pini, Antonella; Garone, Caterina 2023-01-01 NEUROLOGY. GENETICS - 1.01 Articolo in rivista Pietra_2023.pdf
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study Di Fonzo A.; Percetti M.; Monfrini E.; Palmieri I.; Albanese A.; Avenali M.; Bartoletti-Stella A....; Blandini F.; Brescia G.; Calandra Buonaura G.; Campopiano R.; Capellari S.; Colangelo I.; Comi G.P.; Cuconato G.; Ferese R.; Galandra C.; Gambardella S.; Garavaglia B.; Gaudio A.; Giardina E.; Invernizzi F.; Mandich P.; Mineri R.; Panteghini C.; Reale C.; Trevisan L.; Zampatti S.; Cortelli P.; Valente E.M.; PARKNET study group; Baldelli L.; Carelli V.; Giannini G. 2023-01-01 MOVEMENT DISORDERS - 1.01 Articolo in rivista Movement Disorders - 2023 - Di Fonzo - Harmonizing Genetic Testing for Parkinson s Disease Results of the PARKNET.pdfmds29617-sup-0001-supinfo.docx
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation Carelli, Valerio; Newman, Nancy J; Yu-Wai-Man, Patrick; Biousse, Valerie; Moster, Mark L; Subrama...nian, Prem S; Vignal-Clermont, Catherine; Wang, An-Guor; Donahue, Sean P; Leroy, Bart P; Sergott, Robert C; Klopstock, Thomas; Sadun, Alfredo A; Rebolleda Fernández, Gema; Chwalisz, Bart K; Banik, Rudrani; Girmens, Jean François; La Morgia, Chiara; DeBusk, Adam A; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, François; Roux, Michel; Taiel, Magali; Sahel, José-Alain 2023-01-01 OPHTHALMOLOGY AND THERAPY - 1.01 Articolo in rivista s40123-022-00611-x.pdf40123_2022_611_MOESM1_ESM.pdf
Methyl carbamates of phosphatidylethanolamines and phosphatidylserines reveal bacterial contamination in mitochondrial lipid extracts of mouse embryonic fibroblasts Castellaneta, Andrea; Porcelli, Vito; Losito, Ilario; Barile, Serena; Maresca, Alessandra; Del Do...tto, Valentina; Guadalupi, Ludovica Sofia; Calvano, Cosima Damiana; Carelli, Valerio; Palmieri, Luigi; Cataldi, Tommaso R. I. 2023-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista s41598-023-40357-5 (1).pdf41598_2023_40357_MOESM1_ESM.docx
Mitochondrial optic neuropathies Carelli, Valerio; La Morgia, Chiara; Yu-Wai-Man, Patrick 2023-01-01 - Elsevier B.V. 2.01 Capitolo / saggio in libro -
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease La Morgia C.; Mitolo M.; Romagnoli M.; Stanzani Maserati M.; Evangelisti S.; De Matteis M.; Capel...lari S.; Bianchini C.; Testa C.; Vandewalle G.; Santoro A.; Carbonelli M.; D'Agati P.; Filardi M.; Avanzini P.; Barboni P.; Zenesini C.; Baccari F.; Liguori R.; Tonon C.; Lodi R.; Carelli V. 2023-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista Ann Clin Transl Neurol - 2023 - La Morgia.pdf
Randomized trial of bilateral gene therapy injection for m.11778G > A MT-ND4 Leber optic neuropathy Newman, Nancy J; Yu-Wai-Man, Patrick; Subramanian, Prem S; Moster, Mark L; Wang, An-Guor; Donahue..., Sean P; Leroy, Bart P; Carelli, Valerio; Biousse, Valerie; Vignal-Clermont, Catherine; Sergott, Robert C; Sadun, Alfredo A; Fernández, Gema Rebolleda; Chwalisz, Bart K; Banik, Rudrani; Bazin, Fabienne; Roux, Michel; Cox, Eric D; Taiel, Magali; Sahel, José-Alain; LHON REFLECT Study Group 2023-01-01 BRAIN - 1.01 Articolo in rivista Randomized trial of bilateral gene therapy.pdfawac421_supplementary_data.zip