VALENTINO, MARIA LUCIA
VALENTINO, MARIA LUCIA
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Ricercatori
Lucia M. Valentino; Valentino, Lucia
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 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 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 Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy
2015 Licchetta, L; Bisulli, F; Fietz, M; Valentino, M L; Morbin, M; Mostacci, B; Oliver, K L; Berkovic, S F; Tinuper, P
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.
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
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
2006 Hirano, M.; Martí, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D.M.; Valentino, M.L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R.G.; Martone, D.L.; Cairo, M.S.; Dimauro, S.; Stanzani, M.; J.H., Garvin Jr.; Savage, D.G.
An inflammatory myopathy unmasks a case of leprosy in an Italian patient
2015 Liguori, R.; Terlizzi, R.; Giannoccaro, M.P.; Amati, A.; Foschini, M.P.; Parodi, A.; Valentino, M.L.
Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis
2021 Lucchini M.; Maggi L.; Pegoraro E.; Filosto M.; Rodolico C.; Antonini G.; Garibaldi M.; Valentino M.L.; Siciliano G.; Tasca G.; De Arcangelis V.; De Fino C.; Mirabella M.
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.
2007 Genasetti A.; Valentino M.L.; Carelli V.; Vigetti D.; Viola M.; Karousou E.G.; Melzi d'Eril G.V.; De Luca G.; Passi A.; Pallotti F.
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.
2009 do V.F. Ramos .C.; Bellusci C.; Savini G.; Carbonelli M.; Berezovsky A.; Tamaki C.; Cinoto R.; Sacai P.Y.; Moraes-Filho M.N.; Miura H.M.; Valentino M.L.; Iommarini L.; De Negri A.M.; Sadun F.; Cortelli P.; Montagna P.; Salomao S.R.; Sadun A.A.; Carelli V.; Barboni P.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
2020 Caporali L.; Magri S.; Legati A.; Del Dotto V.; Tagliavini F.; Balistreri F.; Nasca A.; La Morgia C.; Carbonelli M.; Valentino M.L.; Lamantea E.; Baratta S.; Schols L.; Schule R.; Barboni P.; Cascavilla M.L.; Maresca A.; Capristo M.; Ardissone A.; Pareyson D.; Cammarata G.; Melzi L.; Zeviani M.; Peverelli L.; Lamperti C.; Marzoli S.B.; Fang M.; Synofzik M.; Ghezzi D.; Carelli V.; Taroni F.
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3)
2020 La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Patergnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V.
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age
2021 Scarpini G.; Valentino M.L.; Giannotta M.; Ragni L.; Torella A.; Columbaro M.; Nigro V.; Pini A.
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
2007 Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carelli V; Solaini G.
Brain diffusion-weighted imaging in Friedreich's ataxia.
2011 Rizzo G.; Tonon C.; Valentino M.L.; Manners D.; Fortuna F.; Gellera C.; Pini A.; Ghezzo A.; Baruzzi A.; Testa C.; Malucelli E.; Barbiroli B.; Carelli V.; Lodi R.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 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 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 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 Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy | Licchetta, L; Bisulli, F; Fietz, M; Valentino, M L; Morbin, M; Mostacci, B; Oliver, K L; Berkovic..., S F; Tinuper, P | 2015-01-01 | EUROPEAN JOURNAL OF MEDICAL GENETICS | - | 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 |
| 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 |
| Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE | Hirano, M.; Martí, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D.M.; Valentino, ...M.L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R.G.; Martone, D.L.; Cairo, M.S.; Dimauro, S.; Stanzani, M.; J.H., Garvin Jr.; Savage, D.G. | 2006-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | - |
| An inflammatory myopathy unmasks a case of leprosy in an Italian patient | Liguori, R.; Terlizzi, R.; Giannoccaro, M.P.; Amati, A.; Foschini, M.P.; Parodi, A.; Valentino, M.L. | 2015-01-01 | JOURNAL OF NEUROLOGY | - | 1.04 Replica / breve intervento (e simili) | - |
| Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis | Lucchini M.; Maggi L.; Pegoraro E.; Filosto M.; Rodolico C.; Antonini G.; Garibaldi M.; Valentino... M.L.; Siciliano G.; Tasca G.; De Arcangelis V.; De Fino C.; Mirabella M. | 2021-01-01 | CELLS | - | 1.01 Articolo in rivista | cells-10-01146.pdf |
| Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. | Genasetti A.; Valentino M.L.; Carelli V.; Vigetti D.; Viola M.; Karousou E.G.; Melzi d'Eril G.V.;... De Luca G.; Passi A.; Pallotti F. | 2007-01-01 | THE JOURNAL OF MOLECULAR DIAGNOSTICS | - | 1.01 Articolo in rivista | - |
| Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. | do V.F. Ramos .C.; Bellusci C.; Savini G.; Carbonelli M.; Berezovsky A.; Tamaki C.; Cinoto R.; Sa...cai P.Y.; Moraes-Filho M.N.; Miura H.M.; Valentino M.L.; Iommarini L.; De Negri A.M.; Sadun F.; Cortelli P.; Montagna P.; Salomao S.R.; Sadun A.A.; Carelli V.; Barboni P. | 2009-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | - |
| ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy | Caporali L.; Magri S.; Legati A.; Del Dotto V.; Tagliavini F.; Balistreri F.; Nasca A.; La Morgia... C.; Carbonelli M.; Valentino M.L.; Lamantea E.; Baratta S.; Schols L.; Schule R.; Barboni P.; Cascavilla M.L.; Maresca A.; Capristo M.; Ardissone A.; Pareyson D.; Cammarata G.; Melzi L.; Zeviani M.; Peverelli L.; Lamperti C.; Marzoli S.B.; Fang M.; Synofzik M.; Ghezzi D.; Carelli V.; Taroni F. | 2020-01-01 | ANNALS OF NEUROLOGY | - | 1.01 Articolo in rivista | ana.25723.pdf |
| Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3) | La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Pater...gnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V. | 2020-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-020-67203-2 (1).pdf |
| BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age | Scarpini G.; Valentino M.L.; Giannotta M.; Ragni L.; Torella A.; Columbaro M.; Nigro V.; Pini A. | 2021-01-01 | ACTA MYOLOGICA | - | 1.01 Articolo in rivista | - |
| Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 | Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carell...i V; Solaini G. | 2007-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | - | 1.01 Articolo in rivista | - |
| Brain diffusion-weighted imaging in Friedreich's ataxia. | Rizzo G.; Tonon C.; Valentino M.L.; Manners D.; Fortuna F.; Gellera C.; Pini A.; Ghezzo A.; Baruz...zi A.; Testa C.; Malucelli E.; Barbiroli B.; Carelli V.; Lodi R. | 2011-01-01 | MOVEMENT DISORDERS | - | 1.01 Articolo in rivista | - |