FIORINI, CLAUDIO

FIORINI, CLAUDIO  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

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Risultati 1 - 15 di 15 (tempo di esecuzione: 0.037 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
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
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
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report Vacchiano V.; Palombo F.; Ormanbekova D.; Fiorini C.; Fiorentino A.; Caporali L.; Mastrangelo A.;... Valentino M.L.; Capellari S.; Liguori R.; Carelli V. 2023-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Vacchiano_2023.pdf
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia Palombo F.; la Morgia C.; Fiorini C.; Caporali L.; Valentino M.L.; Donadio V.; Liguori R.; Carell...i V. 2022-01-01 NEUROLOGY. GENETICS - 1.01 Articolo in rivista e200004.full.pdf
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population Bacalini, Maria Giulia; Palombo, Flavia; Garagnani, Paolo; Giuliani, Cristina; Fiorini, Claudio; ...Caporali, Leonardo; Stanzani Maserati, Michelangelo; Capellari, Sabina; Romagnoli, Martina; De Fanti, Sara; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Galimberti, Daniela; Scarpini, Elio; Arcaro, Marina; Bonanni, Enrica; Siciliano, Gabriele; Maestri, Michelangelo; Guarnieri, Biancamaria; Martucci, Morena; Monti, Daniela; Carelli, Valerio; Franceschi, Claudio; La Morgia, Chiara; Santoro, Aurelia 2022-01-01 GEROSCIENCE - 1.01 Articolo in rivista s11357-021-00477-0.pdf
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura... Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista fgene-13-887696 (1).pdf
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenes...ini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Caporali_mitogenomce_FrontG2022.pdf
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visc...onti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca 2022-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.06 Abstract in rivista -
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors Tsybrovskyy, Oleksiy; De Luise, Monica; Biase, Dario; Caporali, Leonardo; Fiorini, Claudio; Gaspa...rre, Giuseppe; Carelli, Valerio; Hackl, Dominik; Imamovic, Larisa; Haim, Silke; Sobrinho‐Simões, Manuel; Tallini, Giovanni 2022-01-01 THE JOURNAL OF PATHOLOGY. CLINICAL RESEARCH - 1.01 Articolo in rivista The Journal of Pathology CR - 2021 - Tsybrovskyy - Papillary thyroid carcinoma tall cell variant shares accumulation of.pdfCJP2-8-155-s002.docxCJP2-8-155-s001.xlsx
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys Mariantonietta Capristo , Valentina Del Dotto , Concetta Valentina Tropeano , Claudio Fiorini , L...eonardo Caporali , Chiara La Morgia , Maria Lucia Valentino , Monica Montopoli , Valerio Carelli , Alessandra Maresca 2022-01-01 MOLECULAR MEDICINE - 1.01 Articolo in rivista 2022 Capristo.pdf10020_2022_519_MOESM1_ESM.docx
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies Barboni P.; Amore G.; Cascavilla M.L.; Battista M.; Frontino G.; Romagnoli M.; Caporali L.; Baldo...li C.; Gramegna L.L.; Sessagesimi E.; Bonfanti R.; Romagnoli A.; Scotti R.; Brambati M.; Carbonelli M.; Starace V.; Fiorini C.; Panebianco R.; Parisi V.; Tonon C.; Bandello F.; Carelli V.; La Morgia C. 2022-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista -
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1 Caporali L.; Moresco M.; Pizza F.; La Morgia C.; Fiorini C.; Strobbe D.; Zenesini C.; Hooshiar Ka...shani B.; Torroni A.; Pagotto U.; Carelli V.; Plazzi G. 2022-01-01 MITOCHONDRION - 1.01 Articolo in rivista -
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy Palombo F.; Piccolo B.; Saccani E.; Fiorini C.; Capristo M.; Caporali L.; Pisani F.; Carelli V. 2021-01-01 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 1.01 Articolo in rivista -
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. 2021-01-01 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE - 1.01 Articolo in rivista jcmm.16161.pdf
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness Nardecchia F.; De Giorgi A.; Palombo F.; Fiorini C.; De Negri A.M.; Carelli V.; Caporali L.; Leuz...zi V. 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista acn3.51232.pdf