Nesti C - Search Results

1

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A. Saccà F, et al. Among authors: nesti c. J Neurol. 2013 Apr;260(4):1116-21. doi: 10.1007/s00415-012-6770-5. Epub 2012 Nov 30. J Neurol. 2013. PMID: 23196337

2

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C. Vingolo EM, et al. Among authors: nesti c. Eur J Neurol. 2011 Sep;18(9):1187-90. doi: 10.1111/j.1468-1331.2010.03335.x. Epub 2011 Jan 25. Eur J Neurol. 2011. PMID: 21410841

3

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

4

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

5

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

Bandettini di Poggio M, Nesti C, Bruno C, Meschini MC, Schenone A, Santorelli FM. Bandettini di Poggio M, et al. Among authors: nesti c. BMC Med Genet. 2013 Oct 7;14:105. doi: 10.1186/1471-2350-14-105. BMC Med Genet. 2013. PMID: 24099403 Free PMC article.

6

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: nesti c. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442

7

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Nogueira C, Meschini MC, Nesti C, Garcia P, Diogo L, Valongo C, Costa R, Videira A, Vilarinho L, Santorelli FM. Nogueira C, et al. Among authors: nesti c. J Child Neurol. 2015 Feb;30(2):228-32. doi: 10.1177/0883073814527158. Epub 2014 Mar 20. J Child Neurol. 2015. PMID: 24659738

8

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

9

Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.

Mancuso M, Nesti C, Ienco EC, Orsucci D, Pizzanelli C, Chiti A, Giorgi FS, Meschini MC, Fontanini G, Santorelli FM, Logerfo A, Romano A, Siciliano G, Bonuccelli U. Mancuso M, et al. Among authors: nesti c. Am J Med Genet A. 2014 Nov;164A(11):2922-5. doi: 10.1002/ajmg.a.36725. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25125337

10

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Criscuolo C, Procaccini C, Meschini MC, Cianflone A, Carbone R, Doccini S, Devos D, Nesti C, Vuillaume I, Pellegrino M, Filla A, De Michele G, Matarese G, Santorelli FM. Criscuolo C, et al. Among authors: nesti c. J Neurol. 2015 Dec;262(12):2755-63. doi: 10.1007/s00415-015-7911-4. Epub 2015 Nov 3. J Neurol. 2015. PMID: 26530509

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