VALENTINO, MARIA LUCIA

VALENTINO, MARIA LUCIA  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

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Lucia M. Valentino; Valentino, Lucia  

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Risultati 1 - 20 di 107 (tempo di esecuzione: 0.043 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; ...Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schädlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Gläser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Bönnemann, Carsten G; Stettner, Georg M; Zanni, Ginevra; Kayserili, Hülya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie 2024-01-01 NATURE COMMUNICATIONS - 1.01 Articolo in rivista SNUPN_2024.pdf41467_2024_45933_MOESM4_ESM.zip
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.pdfemmm202216951-sup-0002-sdataev.zip
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier? Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, B...artoletti-Stella A, Capellari S, Liguori R, Carelli V 2023-01-01 JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista amore g_JoN2022.pdf
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report Vacchiano V.; Palombo F.; Ormanbekova D.; Fiorini C.; Fiorentino A.; Caporali L.; Mastrangelo A.;... Valentino M.L.; Capellari S.; Liguori R.; Carelli V. 2023-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista Vacchiano_2023.pdf
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 Fiorini C.; Ormanbekova D.; Palombo F.; Carbonelli M.; Amore G.; Romagnoli M.; D'agati P.; Valent...ino M.L.; Barboni P.; Cascavilla M.L.; De Negri A.; Sadun F.; Carta A.; Testa F.; Petruzzella V.; Guerriero S.; Bianchi Marzoli S.; Carelli V.; La Morgia C.; Caporali L. 2023-01-01 BRAIN - 1.01 Articolo in rivista awad080.pdfawad080_supplementary_data.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
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
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Casc...avilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P 2022-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista PIIS0002939422001660.pdfmmc1.docx
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filogran...a, Roberta; Koolmeister, Camilla; Siira, Stefan J; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Carelli, Valerio; Nicholls, Thomas J; Wredenberg, Anna; Falkenberg, Maria; Larsson, Nils-Göran 2022-01-01 NUCLEIC ACIDS RESEARCH - 1.01 Articolo in rivista gkac661.pdfgkac661_supplemental_file.pdf
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation Evangelisti S.; Gramegna L.L.; La Morgia C.; Di Vito L.; Maresca A.; Talozzi L.; Bianchini C.; Mi...tolo M.; Manners D.N.; Caporali L.; Valentino M.L.; Liguori R.; Carelli V.; Lodi R.; Testa C.; Tonon C. 2022-01-01 MOLECULAR GENETICS AND METABOLISM - 1.01 Articolo in rivista -
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort Montano V.; Lopriore P.; Gruosso F.; Carelli V.; Comi G.P.; Filosto M.; Lamperti C.; Mongini T.; ...Musumeci O.; Servidei S.; Tonin P.; Toscano A.; Primiano G.; Valentino M.L.; Bortolani S.; Marchet S.; Ricci G.; Modenese A.; Cotti Piccinelli S.; Risi B.; Meneri M.; Arena I.G.; Siciliano G.; Mancuso M. 2022-01-01 JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista s00415-022-11324-3.pdf415_2022_11324_MOESM1_ESM.docx
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys Mariantonietta Capristo , Valentina Del Dotto , Concetta Valentina Tropeano , Claudio Fiorini , L...eonardo Caporali , Chiara La Morgia , Maria Lucia Valentino , Monica Montopoli , Valerio Carelli , Alessandra Maresca 2022-01-01 MOLECULAR MEDICINE - 1.01 Articolo in rivista 2022 Capristo.pdf10020_2022_519_MOESM1_ESM.docx
The relevance of migraine in the clinical spectrum of mitochondrial disorders Terrin A.; Bello L.; Valentino M.L.; Caporali L.; Soraru G.; Carelli V.; Maggioni F.; Zeviani M.;... Pegoraro E. 2022-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista s41598-022-08206-z.pdf41598_2022_8206_MOESM1_ESM.docx
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La ...Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo 2022-01-01 MOVEMENT DISORDERS - 1.01 Articolo in rivista Movement Disorders - 2022 - Percetti - TWNK in Parkinson s Disease A Movement Disorder and Mitochondrial Disease Center.pdfMDS-37-1938-s001.pdf
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
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 -
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations Gramegna, Laura L; Evangelisti, Stefania; Di Vito, Lidia; La Morgia, Chiara; Maresca, Alessandra;... Caporali, Leonardo; Amore, Giulia; Talozzi, Lia; Bianchini, Claudio; Testa, Claudia; Manners, David N; Cortesi, Irene; Valentino, Maria L; Liguori, Rocco; Carelli, Valerio; Tonon, Caterina; Lodi, Raffaele 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista Ann Clin Transl Neurol - 2021 - Gramegna - Brain MRS correlates with mitochondrial dysfunction biomarkers in.pdfACN3-8-1200-s001.docx
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy Licchetta L.; Ferri L.; La Morgia C.; Zenesini C.; Caporali L.; Lucia Valentino M.; Minardi R.; F...ulitano D.; Di Vito L.; Mostacci B.; Alvisi L.; Avoni P.; Liguori R.; Tinuper P.; Bisulli F.; Carelli V. 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista Ann Clin Transl Neurol - 2021 - Licchetta - Epilepsy in MT‐ATP6 ‐ related mils NARP correlation of elettroclinical.pdfACN3-8-704-s001.docx
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy Mancuso M.; La Morgia C.; Valentino M.L.; Ardissone A.; Lamperti C.; Procopio E.; Garone C.; Sici...liano G.; Musumeci O.; Toscano A.; Primiano G.; Servidei S.; Carelli V. 2021-01-01 MITOCHONDRION - 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