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Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.
Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: pasquariello r. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V. Catania A, et al. Among authors: pasquariello r. Neurogenetics. 2018 Aug;19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3. Neurogenetics. 2018. PMID: 29971521
Relapsing-Remitting Course of Cystic Leukoencephalopathy.
Rubegni A, Ferrari AR, Pasquariello R, Canapicchi R, Santorelli FM, Nesti C. Rubegni A, et al. Among authors: pasquariello r. Pediatr Neurol. 2018 Dec;89:63-65. doi: 10.1016/j.pediatrneurol.2018.08.021. Epub 2018 Aug 24. Pediatr Neurol. 2018. PMID: 30340907 No abstract available.
Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C, Galatolo D, Rubegni A, Doccini S, Pasquariello R, Nesti C, Sicca F, Barghigiani M, Battini R, Tessa A, Santorelli FM. Dosi C, et al. Among authors: pasquariello r. Ann Clin Transl Neurol. 2020 Apr;7(4):595-601. doi: 10.1002/acn3.51024. Epub 2020 Apr 1. Ann Clin Transl Neurol. 2020. PMID: 32237276 Free PMC article.
77 results