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 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
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
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.
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.
2009 G.Gasparre; L. Iommarini; A.M. Porcelli; M. Lang; G.G. Ferri; I.Kurelac; E. Mariani; L.F. Pennisi; E. Pasquini; G. Pasquinelli; A. Ghelli; E. Bonora; C. Ceccarelli; M. Rugolo; N. Salfi; G. Romeo; V. Carelli.
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 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 |
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) | - |
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 |
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells. | G.Gasparre; L. Iommarini; A.M. Porcelli; M. Lang; G.G. Ferri; I.Kurelac; E. Mariani; L.F. Pennisi...; E. Pasquini; G. Pasquinelli; A. Ghelli; E. Bonora; C. Ceccarelli; M. Rugolo; N. Salfi; G. Romeo; V. Carelli. | 2009-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |