CARELLI, VALERIO
CARELLI, VALERIO
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Docenti di ruolo di Ia fascia
Carelli V; Valerio Carelli; V CARELLI
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
2016 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families.
2006 La Morgia C.; Valentino M.L.; Barboni P.; Bellan M.; Carroccia R.; Liguori R.; Avoni P.; Cortelli P.; Montagna P.; Baruzzi A.; Carelli V.
'Behr syndrome' with OPA1 compound heterozygote mutations
2015 Carelli, Valerio; Sabatelli, Mario; Carrozzo, Rosalba; Rizza, Teresa; Schimpf, Simone; Wissinger, Bernd; Zanna, Claudia; Rugolo, Michela; La Morgia, Chiara; Caporali, Leonardo; Carbonelli, Michele; Barboni, Piero; Tonon, Caterina; Lodi, Raffaele; Bertini, Enrico
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands
2014 Yu-Wai-Man, Patrick; Carelli, Valerio; Chinnery, Patrick F.
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
2011 Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S.; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B.
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy
2023 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.
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function
2011 Gasparre G; Kurelac I; Capristo M; Iommarini L; Ghelli A; Ceccarelli C; Nicoletti G; Nanni P; De Giovanni C; Scotlandi K; Betts CM; Carelli V; Lollini PL; Romeo G; Rugolo M; Porcelli AM
A neurodegenerative perspective on mitochondrial optic neuropathies
2016 Yu-Wai-Man, Patrick; Votruba, Marcela; Burté, Florence; la Morgia, Chiara; Barboni, Piero; Carelli, Valerio
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations.
2006 Bellan M.; Avoni P.; Liguori R.; Carroccia R.; Valentino M.L.; Villanova M.; La Morgia C.; Fulitano D.; Baruzzi A.; Lodi R.; Tonon C.; Lamantea E.; Zeviani M.; Carelli V.
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.
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
2014 Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
2013 T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguori; M. L. Valentino; M. Seri; V. Carelli
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.
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.
2014 Pallotti F; Binelli G; Fabbri R; Valentino ML; Vicenti R; Macciocca M; Cevoli S; Baruzzi A; DiMauro S; Carelli V.
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report
2022 Newman N.J.; Schniederjan M.; Mendoza P.R.; Calkins D.J.; Yu-Wai-Man P.; Biousse V.; Carelli V.; Taiel M.; Rugiero F.; Singh P.; Rogue A.; Sahel J.-A.; Ancian P.
Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs
2021 Vasseneix C.; Najjar R.P.; Xu X.; Tang Z.; Loo J.L.; Singhal S.; Tow S.; Milea L.; Ting D.S.W.; Liu Y.; Wong T.Y.; Newman N.J.; Biousse V.; Milea D; BONSAI Group; Carelli V.
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency.
2013 R. Liguori;M. P. Giannoccaro;E. Pasini;P. Riguzzi;M. L. Valentino;G. P. Comi;V. Carelli;N. Bresolin;R. Michelucci
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
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
AIF and endonuclease G are involved in the caspase-indepenent death of cybrids with LHON mutations
2004 A.M.Porcelli; C. Zanna; A. Montanaro; V.Carelli; A.Ghelli; M.Rugolo
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network | Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Co...mi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele | 2016-01-01 | NEUROMUSCULAR DISORDERS | - | 1.01 Articolo in rivista | - |
"Plus" features of Leber's Hereditary Optic Neuropathy in nineteen Italian families. | La Morgia C.; Valentino M.L.; Barboni P.; Bellan M.; Carroccia R.; Liguori R.; Avoni P.; Cortelli... P.; Montagna P.; Baruzzi A.; Carelli V. | 2006-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
'Behr syndrome' with OPA1 compound heterozygote mutations | Carelli, Valerio; Sabatelli, Mario; Carrozzo, Rosalba; Rizza, Teresa; Schimpf, Simone; Wissinger,... Bernd; Zanna, Claudia; Rugolo, Michela; La Morgia, Chiara; Caporali, Leonardo; Carbonelli, Michele; Barboni, Piero; Tonon, Caterina; Lodi, Raffaele; Bertini, Enrico | 2015-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands | Yu-Wai-Man, Patrick; Carelli, Valerio; Chinnery, Patrick F. | 2014-01-01 | NEUROMUSCULAR DISORDERS | - | 1.01 Articolo in rivista | - |
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. | Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S....; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B. | 2011-01-01 | HUMAN MOLECULAR GENETICS | - | 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.pdf; emmm202216951-sup-0002-sdataev.zip |
A Mutation Threshold Distinguishes the Antitumorigenic Effects of the Mitochondrial Gene MTND1, an Oncojanus Function | Gasparre G; Kurelac I; Capristo M; Iommarini L; Ghelli A; Ceccarelli C; Nicoletti G; Nanni P; De ...Giovanni C; Scotlandi K; Betts CM; Carelli V; Lollini PL; Romeo G; Rugolo M; Porcelli AM | 2011-01-01 | CANCER RESEARCH | - | 1.01 Articolo in rivista | - |
A neurodegenerative perspective on mitochondrial optic neuropathies | Yu-Wai-Man, Patrick; Votruba, Marcela; Burté, Florence; la Morgia, Chiara; Barboni, Piero; Carell...i, Valerio | 2016-01-01 | ACTA NEUROPATHOLOGICA | - | 1.01 Articolo in rivista | Yu-Wai-Man2016_Article_ANeurodegenerativePerspectiveO.pdf; 401_2016_1625_MOESM1_ESM.doc |
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. | Bellan M.; Avoni P.; Liguori R.; Carroccia R.; Valentino M.L.; Villanova M.; La Morgia C.; Fulita...no D.; Baruzzi A.; Lodi R.; Tonon C.; Lamantea E.; Zeviani M.; Carelli V. | 2006-01-01 | NEUROLOGICAL SCIENCES | - | 4.02 Riassunto (Abstract) | - |
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 | - |
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. | Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;...Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V | 2014-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. |
T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguor...i; M. L. Valentino; M. Seri; V. Carelli |
2013-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | journal.pone.0082154.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 |
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. | Pallotti F; Binelli G; Fabbri R; Valentino ML; Vicenti R; Macciocca M; Cevoli S; Baruzzi A; DiMau...ro S; Carelli V. | 2014-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | Pallotti et al 2014.pdf |
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report | Newman N.J.; Schniederjan M.; Mendoza P.R.; Calkins D.J.; Yu-Wai-Man P.; Biousse V.; Carelli V.; ...Taiel M.; Rugiero F.; Singh P.; Rogue A.; Sahel J.-A.; Ancian P. | 2022-01-01 | BMC NEUROLOGY | - | 1.01 Articolo in rivista | s12883-022-02787-y (1).pdf |
Accuracy of a Deep Learning System for Classification of Papilledema Severity on Ocular Fundus Photographs | Vasseneix C.; Najjar R.P.; Xu X.; Tang Z.; Loo J.L.; Singhal S.; Tow S.; Milea L.; Ting D.S.W.; L...iu Y.; Wong T.Y.; Newman N.J.; Biousse V.; Milea D; BONSAI Group; Carelli V. | 2021-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. | R. Liguori;M. P. Giannoccaro;E. Pasini;P. Riguzzi;M. L. Valentino;G. P. Comi;V. Carelli;N. Bresol...in;R. Michelucci | 2013-01-01 | JOURNAL OF NEUROLOGY | - | 1.04 Replica / breve intervento (e simili) | - |
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 |
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 | - |
AIF and endonuclease G are involved in the caspase-indepenent death of cybrids with LHON mutations | A.M.Porcelli; C. Zanna; A. Montanaro; V.Carelli; A.Ghelli; M.Rugolo | 2004-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |