Pubblicazioni - Linea di Ricerca 2

Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group.
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
N Engl J Med. 2020 Apr 30;382(18):1687-1695. doi: 10.1056/NEJMoa1917130. Epub 2020 Apr 14. PMID: 32286748.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. PMID: 31550240; PMCID: PMC6934201.

Giannoccaro MP, Paolucci M, Zenesini C, Di Stasi V, Donadio V, Avoni P, Liguori R.
Comparison of ice pack test and single-fiber EMG diagnostic accuracy in patients referred for myasthenic ptosis.
Neurology. 2020 Sep 29;95(13):e1800-e1806. doi: 10.1212/WNL.0000000000010619. Epub 2020 Aug 11. PMID: 32788239.

Rizzo G, Marliani AF, Battaglia S, Albini Riccioli L, De Pasqua S, Vacchiano V, Infante R, Avoni P, Donadio V, Passaretti M, Bartolomei I, Salvi F, Liguori R, On Behalf Of The BoReALS Group.
Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis.
J Clin Med. 2020 Aug 6;9(8):2538. doi: 10.3390/jcm9082538. PMID: 32781557; PMCID: PMC7463468.

La Morgia C, Maresca A, Amore G, Gramegna LL, 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 ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V.
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
Sci Rep. 2020 Mar 16;10(1):4785. doi: 10.1038/s41598-020-61735-3. Erratum in: Sci Rep. 2020 Jun 23;10(1):10398. PMID: 32179840; PMCID: PMC7075867.