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New findings in the ataxia of Charlevoix-Saguenay.
Gazulla J, Benavente I, Vela AC, Marín MA, Pablo LE, Tessa A, Barrena MR, Santorelli FM, Nesti C, Modrego P, Tintoré M, Berciano J. Gazulla J, et al. Among authors: nesti c. J Neurol. 2012 May;259(5):869-78. doi: 10.1007/s00415-011-6269-5. Epub 2011 Oct 13. J Neurol. 2012. PMID: 21993619
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: nesti c. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
Large deletion mutation of SPAST in a multi-generation family from Sardinia.
Racis L, Di Fabio R, Tessa A, Guillot F, Storti E, Piccolo F, Nesti C, Tedde A, Pierelli F, Agnetti V, Santorelli FM, Casali C. Racis L, et al. Among authors: nesti c. Eur J Neurol. 2014 Jun;21(6):935-8. doi: 10.1111/ene.12290. Epub 2013 Nov 4. Eur J Neurol. 2014. PMID: 24824741
Concentric muscle involvement in POLG-related distal myopathy.
Tasca G, Monforte M, Nesti C, Santorelli FM, Silvestri G, Ricci E. Tasca G, et al. Among authors: nesti c. Neuromuscul Disord. 2017 May;27(5):500-501. doi: 10.1016/j.nmd.2017.03.001. Epub 2017 Mar 7. Neuromuscul Disord. 2017. PMID: 28336318 No abstract available.
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: nesti c. 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
109 results