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Clinical and molecular studies in two new cases of ARSACS.
Ricca I, Morani F, Bacci GM, Nesti C, Caputo R, Tessa A, Santorelli FM. Ricca I, et al. Among authors: nesti c. Neurogenetics. 2019 Mar;20(1):45-49. doi: 10.1007/s10048-019-00564-7. Epub 2019 Jan 24. Neurogenetics. 2019. PMID: 30680480
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
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: nesti c. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
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
109 results