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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 407 (tempo di esecuzione: 0.032 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 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 -
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) -