LA MORGIA, CHIARA
LA MORGIA, CHIARA
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Ricercatori a tempo determinato
La Morgia C; Morgia CL; C. LA MORGIA; C. L. Morgia
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients
2024 Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna Maria; 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
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.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024 Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.; Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
2024 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.
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights
2023 Barboni, Piero; La Morgia, Chiara; Cascavilla, Maria Lucia; Hong, Eun Hee; Battista, Marco; Majander, 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
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review
2023 Romagnoli, Martina; Amore, Giulia; Avanzini, Pietro; Carelli, Valerio; La Morgia, Chiara
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
Deep Learning System Outperforms Clinicians in Identifying Optic Disc Abnormalities
2023 Vasseneix C.; Nusinovici S.; Xu X.; Hwang J.-M.; Hamann S.; Chen J.J.; Loo J.L.; Milea L.; Tan K.B.K.; Ting D.S.W.; Liu Y.; Newman N.J.; Biousse V.; Wong T.Y.; Milea D.; Najjar R.P.; Gohier P.; Miller N.; Vanikieti K.; La Morgia C.; Rougier M.-B.; Ambika S.; Fonseca P.; Lagreze W.A.; Sanda N.; Chiquet C.; Yang H.; Chan C.K.M.; Cheung C.Y.; Chau T.T.H.; Jurkute N.; Yu-Wai-Man P.; Kho R.; Jonas J.B.; Vignal-Clermont C.; Kim D.H.; Yang H.K.; Aung T.; Singhal S.; Tow S.; Nongpiur M.E.; Perera S.; Narayanaswamy A.; Thirugnanam U.N.; Fraser C.L.; Mejico L.J.; Fard M.A.
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
2023 Carelli, Valerio; Newman, Nancy J; Yu-Wai-Man, Patrick; Biousse, Valerie; Moster, Mark L; Subramanian, 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
Mitochondrial optic neuropathies
2023 Carelli, Valerio; La Morgia, Chiara; Yu-Wai-Man, Patrick
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease
2023 La Morgia C.; Mitolo M.; Romagnoli M.; Stanzani Maserati M.; Evangelisti S.; De Matteis M.; Capellari 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.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
2023 Fiorini C.; Degiorgi A.; Cascavilla M.L.; Tropeano C.V.; La Morgia C.; Battista M.; Ormanbekova D.; Palombo F.; Carbonelli M.; Bandello F.; Carelli V.; Maresca A.; Barboni P.; Baruffini E.; Caporali L.
The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis
2023 Asseyer, Susanna; Asgari, Nasrin; Bennett, Jeffrey; Bialer, Omer; Blanco, Yolanda; Bosello, Francesca; Camos-Carreras, Anna; Carnero Contentti, Edgar; Carta, Sara; Chen, John; Chien, Claudia; Chomba, Mashina; Dale, Russell C.; Dalmau, Josep; Feldmann, Kristina; Flanagan, Eoin P.; Froment Tilikete, Caroline; Garcia-Alfonso, Carolina; Havla, Joachim; Hellmann, Mark; Kim, Ho Jin; Klyscz, Philipp; Konietschke, Frank; La Morgia, Chiara; Lana-Peixoto, Marco; Leite, Maria Isabel; Levin, Netta; Levy, Michael; Llufriu, Sara; Lopez, Pablo; Lotan, Itay; Lugaresi, Alessandra; Marignier, Romain; Mariotto, Sara; Mollan, Susan P.; Ocampo, Cassandra; Cosima Oertel, Frederike; Olszewska, Maja; Palace, Jacqueline; Pandit, Lekha; Peralta Uribe, José Luis; Pittock, Sean; Ramanathan, Sudarshini; Rattanathamsakul, Natthapon; Saiz, Albert; Samadzadeh, Sara; Sanchez-Dalmau, Bernardo; Saylor, Deanna; Scheel, Michael; Schmitz-Hübsch, Tanja; Shifa, Jemal; Siritho, Sasitorn; Sperber, Pia S.; Subramanian, Prem S.; Tiosano, Alon; Vaknin-Dembinsky, Adi; Mejia Vergara, Alvaro Jose; Wilf-Yarkoni, Adi; Zarco, Luis Alfonso; Zimmermann, Hanna G.; Paul, Friedemann; Stiebel-Kalish, Hadas
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
2023 Fiorini C.; Ormanbekova D.; Palombo F.; Carbonelli M.; Amore G.; Romagnoli M.; D'agati P.; Valentino M.L.; Barboni P.; Cascavilla M.L.; De Negri A.; Sadun F.; Carta A.; Testa F.; Petruzzella V.; Guerriero S.; Bianchi Marzoli S.; Carelli V.; La Morgia C.; Caporali L.
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.
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
2022 Montano, V; Orsucci, D; Carelli, V; La Morgia, C; Valentino, M L; Lamperti, C; Marchet, S; Musumeci, O; Toscano, A; Primiano, G; Santorelli, F M; Ticci, C; Filosto, M; Rubegni, A; Mongini, T; Tonin, P; Servidei, S; Ceravolo, R; Siciliano, G; Mancuso, Michelangelo
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
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
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder
2022 La Morgia C.; Romagnoli M.; Pizza F.; Biscarini F.; Filardi M.; Donadio V.; Carbonelli M.; Amore G.; Park J.C.; Tinazzi M.; Carelli V.; Liguori R.; Plazzi G.; Antelmi E.
| 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 | Amore_2024.pdf |
| 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 |
| Deoxyguanosine kinase deficiency: natural history and liver transplant outcome | Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.;... Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C. | 2024-01-01 | BRAIN COMMUNICATIONS | - | 1.01 Articolo in rivista | dGK_Manzonietal.pdf; fcae160_supplementary_data.zip |
| 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 |
| 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 | - |
| 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 |
| Deep Learning System Outperforms Clinicians in Identifying Optic Disc Abnormalities | Vasseneix C.; Nusinovici S.; Xu X.; Hwang J.-M.; Hamann S.; Chen J.J.; Loo J.L.; Milea L.; Tan K....B.K.; Ting D.S.W.; Liu Y.; Newman N.J.; Biousse V.; Wong T.Y.; Milea D.; Najjar R.P.; Gohier P.; Miller N.; Vanikieti K.; La Morgia C.; Rougier M.-B.; Ambika S.; Fonseca P.; Lagreze W.A.; Sanda N.; Chiquet C.; Yang H.; Chan C.K.M.; Cheung C.Y.; Chau T.T.H.; Jurkute N.; Yu-Wai-Man P.; Kho R.; Jonas J.B.; Vignal-Clermont C.; Kim D.H.; Yang H.K.; Aung T.; Singhal S.; Tow S.; Nongpiur M.E.; Perera S.; Narayanaswamy A.; Thirugnanam U.N.; Fraser C.L.; Mejico L.J.; Fard M.A. | 2023-01-01 | JOURNAL OF NEURO-OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| 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.pdf; 40123_2022_611_MOESM1_ESM.pdf |
| 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 |
| Recessive MECR pathogenic variants cause an LHON-like optic neuropathy | Fiorini C.; Degiorgi A.; Cascavilla M.L.; Tropeano C.V.; La Morgia C.; Battista M.; Ormanbekova D....; Palombo F.; Carbonelli M.; Bandello F.; Carelli V.; Maresca A.; Barboni P.; Baruffini E.; Caporali L. | 2023-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | 93.full.pdf; jmg-2023-109340supp001.pdf |
| The Acute Optic Neuritis Network (ACON): Study protocol of a non-interventional prospective multicenter study on diagnosis and treatment of acute optic neuritis | Asseyer, Susanna; Asgari, Nasrin; Bennett, Jeffrey; Bialer, Omer; Blanco, Yolanda; Bosello, Franc...esca; Camos-Carreras, Anna; Carnero Contentti, Edgar; Carta, Sara; Chen, John; Chien, Claudia; Chomba, Mashina; Dale, Russell C.; Dalmau, Josep; Feldmann, Kristina; Flanagan, Eoin P.; Froment Tilikete, Caroline; Garcia-Alfonso, Carolina; Havla, Joachim; Hellmann, Mark; Kim, Ho Jin; Klyscz, Philipp; Konietschke, Frank; La Morgia, Chiara; Lana-Peixoto, Marco; Leite, Maria Isabel; Levin, Netta; Levy, Michael; Llufriu, Sara; Lopez, Pablo; Lotan, Itay; Lugaresi, Alessandra; Marignier, Romain; Mariotto, Sara; Mollan, Susan P.; Ocampo, Cassandra; Cosima Oertel, Frederike; Olszewska, Maja; Palace, Jacqueline; Pandit, Lekha; Peralta Uribe, José Luis; Pittock, Sean; Ramanathan, Sudarshini; Rattanathamsakul, Natthapon; Saiz, Albert; Samadzadeh, Sara; Sanchez-Dalmau, Bernardo; Saylor, Deanna; Scheel, Michael; Schmitz-Hübsch, Tanja; Shifa, Jemal; Siritho, Sasitorn; Sperber, Pia S.; Subramanian, Prem S.; Tiosano, Alon; Vaknin-Dembinsky, Adi; Mejia Vergara, Alvaro Jose; Wilf-Yarkoni, Adi; Zarco, Luis Alfonso; Zimmermann, Hanna G.; Paul, Friedemann; Stiebel-Kalish, Hadas | 2023-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | ACON - fneur-14-1102353.pdf; Data_Sheet_1.docx |
| The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 | Fiorini C.; Ormanbekova D.; Palombo F.; Carbonelli M.; Amore G.; Romagnoli M.; D'agati P.; Valent...ino M.L.; Barboni P.; Cascavilla M.L.; De Negri A.; Sadun F.; Carta A.; Testa F.; Petruzzella V.; Guerriero S.; Bianchi Marzoli S.; Carelli V.; La Morgia C.; Caporali L. | 2023-01-01 | BRAIN | - | 1.01 Articolo in rivista | awad080.pdf; awad080_supplementary_data.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 |
| Adult-onset mitochondrial movement disorders: a national picture from the Italian Network | Montano, V; Orsucci, D; Carelli, V; La Morgia, C; Valentino, M L; Lamperti, C; Marchet, S; Musume...ci, O; Toscano, A; Primiano, G; Santorelli, F M; Ticci, C; Filosto, M; Rubegni, A; Mongini, T; Tonin, P; Servidei, S; Ceravolo, R; Siciliano, G; Mancuso, Michelangelo | 2022-01-01 | JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | Montano2022_Article_Adult-onsetMitochondrialMoveme.pdf; 415_2021_10697_MOESM1_ESM.doc |
| 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 |
| 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 |
| Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder | La Morgia C.; Romagnoli M.; Pizza F.; Biscarini F.; Filardi M.; Donadio V.; Carbonelli M.; Amore ...G.; Park J.C.; Tinazzi M.; Carelli V.; Liguori R.; Plazzi G.; Antelmi E. | 2022-01-01 | MOVEMENT DISORDERS | - | 1.01 Articolo in rivista | Movement Disorders - 2021 - La Morgia - Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder.pdf; mds28809-sup-0001-tables1.docx |