FIORINI, CLAUDIO
FIORINI, CLAUDIO
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
2024 Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Cordeddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Sørensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M.
Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models
2024 Boso, Daniele; Piga, Ilaria; Trento, Chiara; Minuzzo, Sonia; Angi, Eleonora; Iommarini, Luisa; Lazzarini, Elisabetta; Caporali, Leonardo; Fiorini, Claudio; D'Angelo, Luigi; De Luise, Monica; Kurelac, Ivana; Fassan, Matteo; Porcelli, Anna Maria; Navaglia, Filippo; Billato, Ilaria; Esposito, Giovanni; Gasparre, Giuseppe; Romualdi, Chiara; Indraccolo, Stefano
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
2024 Palombo F.; Vaisfeld A.; Tropeano V.C.; Ormanbekova D.; Bacchi I.; Fiorini C.; Peruzzi A.; Morandi L.; Liguori R.; Carelli V.; Rizzo G.
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
2023 Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder
2023 Pietra, Andrea; Palombo, Flavia; Giannotta, Melania; Maffei, Monica; Fiorini, Claudio; Costa, Roberta; Cenacchi, Giovanna; Carelli, Valerio; Cordelli, Duccio Maria; Pini, Antonella; Garone, Caterina
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
2023 Vacchiano V.; Palombo F.; Ormanbekova D.; Fiorini C.; Fiorentino A.; Caporali L.; Mastrangelo A.; Valentino M.L.; Capellari S.; Liguori R.; Carelli V.
A second case with the V374A KCND3 pathogenic variant in an Italian patient with early-onset spinocerebellar ataxia
2022 Palombo F.; la Morgia C.; Fiorini C.; Caporali L.; Valentino M.L.; Donadio V.; Liguori R.; Carelli V.
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population
2022 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
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
2022 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
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
2022 Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, 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
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype
2022 Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Baccari, Flavia; Romagnoli, Martina; Visconti, Paola; Posar, Annio; Scaduto, MARIA CRISTINA; Maestrini, Elena; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Bacchelli, Elena; Rochat, Magali; Carelli, Valerio; Maresca, Alessandra
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors
2022 Tsybrovskyy, Oleksiy; De Luise, Monica; Biase, Dario; Caporali, Leonardo; Fiorini, Claudio; Gasparre, Giuseppe; Carelli, Valerio; Hackl, Dominik; Imamovic, Larisa; Haim, Silke; Sobrinho‐Simões, Manuel; Tallini, Giovanni
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
2022 Mariantonietta Capristo , Valentina Del Dotto , Concetta Valentina Tropeano , Claudio Fiorini , Leonardo Caporali , Chiara La Morgia , Maria Lucia Valentino , Monica Montopoli , Valerio Carelli , Alessandra Maresca
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
2022 Barboni P.; Amore G.; Cascavilla M.L.; Battista M.; Frontino G.; Romagnoli M.; Caporali L.; Baldoli 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.
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1
2022 Caporali L.; Moresco M.; Pizza F.; La Morgia C.; Fiorini C.; Strobbe D.; Zenesini C.; Hooshiar Kashani B.; Torroni A.; Pagotto U.; Carelli V.; Plazzi G.
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy
2021 Palombo F.; Piccolo B.; Saccani E.; Fiorini C.; Capristo M.; Caporali L.; Pisani F.; Carelli V.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 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.
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness
2021 Nardecchia F.; De Giorgi A.; Palombo F.; Fiorini C.; De Negri A.M.; Carelli V.; Caporali L.; Leuzzi V.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy | Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Corde...ddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Sørensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M. | 2024-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | ScienceDirect_files_07Nov2024_15-01-25.977.zip; Brugger_AJHG_2024.pdf |
| Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models | Boso, Daniele; Piga, Ilaria; Trento, Chiara; Minuzzo, Sonia; Angi, Eleonora; Iommarini, Luisa; La...zzarini, Elisabetta; Caporali, Leonardo; Fiorini, Claudio; D'Angelo, Luigi; De Luise, Monica; Kurelac, Ivana; Fassan, Matteo; Porcelli, Anna Maria; Navaglia, Filippo; Billato, Ilaria; Esposito, Giovanni; Gasparre, Giuseppe; Romualdi, Chiara; Indraccolo, Stefano | 2024-01-01 | JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH | - | 1.01 Articolo in rivista | J Exp Clin Cancer Res.pdf |
| Two more families supporting the existence of monogenic spinocerebellar ataxia 48 | Palombo F.; Vaisfeld A.; Tropeano V.C.; Ormanbekova D.; Bacchi I.; Fiorini C.; Peruzzi A.; Morand...i L.; Liguori R.; Carelli V.; Rizzo G. | 2024-01-01 | NEUROGENETICS | - | 1.01 Articolo in rivista | - |
| 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; 11357_2021_477_MOESM1_ESM.jpg; 11357_2021_477_MOESM2_ESM.docx; 11357_2021_477_MOESM3_ESM.xlsx |
| 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 | Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Baccari, Flavia; Romagnoli, Martina; Visco...nti, Paola; Posar, Annio; Scaduto, MARIA CRISTINA; Maestrini, Elena; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Bacchelli, Elena; Rochat, Magali; Carelli, Valerio; Maresca, Alessandra | 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.pdf; CJP2-8-155-s002.docx; CJP2-8-155-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.pdf; 10020_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 |