Sfoglia per Autore
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.
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy
2021 Licchetta L.; Ferri L.; La Morgia C.; Zenesini C.; Caporali L.; Lucia Valentino M.; Minardi R.; Fulitano D.; Di Vito L.; Mostacci B.; Alvisi L.; Avoni P.; Liguori R.; Tinuper P.; Bisulli F.; Carelli V.
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs
2021 Palombo F.; Peron C.; Caporali L.; Iannielli A.; Maresca A.; Di Meo I.; Fiorini C.; Segnali A.; Sciacca F.L.; Rizzo A.; Levi S.; Suomalainen A.; Prigione A.; Broccoli V.; Carelli V.; Tiranti V.
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype
2021 Rajabian, Firuzeh; Manitto, Maria Pia; Palombo, Flavia; Caporali, Leonardo; Grazioli, Alessio; Starace, Vincenzo; Arrigo, Alessandro; Cascavilla, Maria Lucia; La Morgia, Chiara; Barboni, Piero; Bandello, Francesco; Carelli, Valerio; Battaglia Parodi, Maurizio
Epilepsy with auditory features: Contribution of known genes in 112 patients
2021 Bisulli F.; Rinaldi C.; Pippucci T.; Minardi R.; Baldassari S.; Zenesini C.; Mostacci B.; Fanella M.; Avoni P.; Menghi V.; Caporali L.; Muccioli L.; Tinuper P.; Licchetta L.
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 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.
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
2022 Manini, Arianna; Caporali, Leonardo; Meneri, Megi; Zanotti, Simona; Piga, Daniela; Arena, Ignazio Giuseppe; Corti, Stefania; Toscano, Antonio; Comi, Giacomo Pietro; Musumeci, Olimpia; Carelli, Valerio; Ronchi, Dario
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
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
2022 Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation
2022 Evangelisti S.; Gramegna L.L.; La Morgia C.; Di Vito L.; Maresca A.; Talozzi L.; Bianchini C.; Mitolo M.; Manners D.N.; Caporali L.; Valentino M.L.; Liguori R.; Carelli V.; Lodi R.; Testa C.; Tonon C.
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant
2022 Boschetti, Elisa; Caporali, Leonardo; D'Angelo, Roberto; Malagelada, Carolina; Accarino, Anna; Dotti, Maria Teresa; Costa, Roberta; Cenacchi, Giovanna; Pironi, Loris; Rinaldi, Rita; Stanghellini, Vincenzo; Ratti, Stefano; Manzoli, Lucia; Carelli, Valerio; De Giorgio, Roberto
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts
2022 Percetti, Marco; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; Carelli, Valerio; Valente, Enza Maria; Di Fonzo, Alessio
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.
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy
2022 Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Cascavilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P
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
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
2022 Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filograna, Roberta; Koolmeister, Camilla; Siira, Stefan J; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Carelli, Valerio; Nicholls, Thomas J; Wredenberg, Anna; Falkenberg, Maria; Larsson, Nils-Göran
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype
2022 Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)
2022 Lombardo G.; Rambaldi Migliore N.; Colombo G.; Capodiferro M.R.; Formenti G.; Caprioli M.; Moroni E.; Caporali L.; Lancioni H.; Secomandi S.; Gallo G.R.; Costanzo A.; Romano A.; Garofalo M.; Cereda C.; Carelli V.; Gillespie L.; Liu Y.; Kiat Y.; Marzal A.; Lopez-Calderon C.; Balbontin J.; Mousseau T.A.; Matyjasiak P.; Moller A.P.; Semino O.; Ambrosini R.; Bonisoli-Alquati A.; Rubolini D.; Ferretti L.; Achilli A.; Gianfranceschi L.; Olivieri A.; Torroni A.
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
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 |
| Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy | Licchetta L.; Ferri L.; La Morgia C.; Zenesini C.; Caporali L.; Lucia Valentino M.; Minardi R.; F...ulitano D.; Di Vito L.; Mostacci B.; Alvisi L.; Avoni P.; Liguori R.; Tinuper P.; Bisulli F.; Carelli V. | 2021-01-01 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | - | 1.01 Articolo in rivista | Ann Clin Transl Neurol - 2021 - Licchetta - Epilepsy in MT‐ATP6 ‐ related mils NARP correlation of elettroclinical.pdf; ACN3-8-704-s001.docx |
| The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs | Palombo F.; Peron C.; Caporali L.; Iannielli A.; Maresca A.; Di Meo I.; Fiorini C.; Segnali A.; S...ciacca F.L.; Rizzo A.; Levi S.; Suomalainen A.; Prigione A.; Broccoli V.; Carelli V.; Tiranti V. | 2021-01-01 | STEM CELL REPORTS | - | 1.01 Articolo in rivista | 1-s2.0-S2213671121003246-main.pdf; file supplementari.zip |
| Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype | Rajabian, Firuzeh; Manitto, Maria Pia; Palombo, Flavia; Caporali, Leonardo; Grazioli, Alessio; St...arace, Vincenzo; Arrigo, Alessandro; Cascavilla, Maria Lucia; La Morgia, Chiara; Barboni, Piero; Bandello, Francesco; Carelli, Valerio; Battaglia Parodi, Maurizio | 2021-01-01 | JOURNAL OF NEURO-OPHTHALMOLOGY | - | 1.04 Replica / breve intervento (e simili) | - |
| Epilepsy with auditory features: Contribution of known genes in 112 patients | Bisulli F.; Rinaldi C.; Pippucci T.; Minardi R.; Baldassari S.; Zenesini C.; Mostacci B.; Fanella... M.; Avoni P.; Menghi V.; Caporali L.; Muccioli L.; Tinuper P.; Licchetta L. | 2021-01-01 | SEIZURE | - | 1.01 Articolo in rivista | - |
| 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 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 | - |
| Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions | Manini, Arianna; Caporali, Leonardo; Meneri, Megi; Zanotti, Simona; Piga, Daniela; Arena, Ignazio... Giuseppe; Corti, Stefania; Toscano, Antonio; Comi, Giacomo Pietro; Musumeci, Olimpia; Carelli, Valerio; Ronchi, Dario | 2022-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | fgene-13-906667 (1).pdf; Table1.DOCX |
| 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 |
| TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study | Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La ...Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo | 2022-01-01 | MOVEMENT DISORDERS | - | 1.01 Articolo in rivista | Movement Disorders - 2022 - Percetti - TWNK in Parkinson s Disease A Movement Disorder and Mitochondrial Disease Center.pdf; MDS-37-1938-s001.pdf |
| Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation | Evangelisti S.; Gramegna L.L.; La Morgia C.; Di Vito L.; Maresca A.; Talozzi L.; Bianchini C.; Mi...tolo M.; Manners D.N.; Caporali L.; Valentino M.L.; Liguori R.; Carelli V.; Lodi R.; Testa C.; Tonon C. | 2022-01-01 | MOLECULAR GENETICS AND METABOLISM | - | 1.01 Articolo in rivista | - |
| Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant | Boschetti, Elisa; Caporali, Leonardo; D'Angelo, Roberto; Malagelada, Carolina; Accarino, Anna; Do...tti, Maria Teresa; Costa, Roberta; Cenacchi, Giovanna; Pironi, Loris; Rinaldi, Rita; Stanghellini, Vincenzo; Ratti, Stefano; Manzoli, Lucia; Carelli, Valerio; De Giorgio, Roberto | 2022-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | 35-Boschetti laser microdissection 2022.pdf |
| Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts | Percetti, Marco; Monfrini, Edoardo; Caporali, Leonardo; Minardi, Raffaella; Carelli, Valerio; Val...ente, Enza Maria; Di Fonzo, Alessio | 2022-01-01 | MOVEMENT DISORDERS | - | 1.04 Replica / breve intervento (e simili) | - |
| 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 |
| Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy | Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Casc...avilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P | 2022-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | PIIS0002939422001660.pdf; mmc1.docx |
| 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 |
| Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion | Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filogran...a, Roberta; Koolmeister, Camilla; Siira, Stefan J; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Carelli, Valerio; Nicholls, Thomas J; Wredenberg, Anna; Falkenberg, Maria; Larsson, Nils-Göran | 2022-01-01 | NUCLEIC ACIDS RESEARCH | - | 1.01 Articolo in rivista | gkac661.pdf; gkac661_supplemental_file.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 | - |
| The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica) | Lombardo G.; Rambaldi Migliore N.; Colombo G.; Capodiferro M.R.; Formenti G.; Caprioli M.; Moroni... E.; Caporali L.; Lancioni H.; Secomandi S.; Gallo G.R.; Costanzo A.; Romano A.; Garofalo M.; Cereda C.; Carelli V.; Gillespie L.; Liu Y.; Kiat Y.; Marzal A.; Lopez-Calderon C.; Balbontin J.; Mousseau T.A.; Matyjasiak P.; Moller A.P.; Semino O.; Ambrosini R.; Bonisoli-Alquati A.; Rubolini D.; Ferretti L.; Achilli A.; Gianfranceschi L.; Olivieri A.; Torroni A. | 2022-01-01 | MOLECULAR BIOLOGY AND EVOLUTION | - | 1.01 Articolo in rivista | msac113.pdf; msac113_supplementary_data.zip |
| 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 |
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