CARELLI, VALERIO

CARELLI, VALERIO  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

Docenti di ruolo di Ia fascia  

Carelli V; Valerio Carelli; V CARELLI  

Mostra records
Risultati 1 - 20 di 380 (tempo di esecuzione: 0.029 secondi).
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.pdf401_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 -
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.pdf415_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 -