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A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, Brusco A. Giorgio E, et al. Among authors: ferrero m. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. J Neurol Neurosurg Psychiatry. 2017. PMID: 28473625 Free article. No abstract available.
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A. Mancini C, et al. Among authors: ferrero p, ferrero m. Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3. Eur J Neurol. 2019. PMID: 30098094 Free article.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: ferrero m. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Pozzi E, Giorgio E, Mancini C, Lo Buono N, Augeri S, Ferrero M, Di Gregorio E, Riberi E, Vinciguerra M, Nanetti L, Bianchi FT, Sassi MP, Costanzo V, Mariotti C, Funaro A, Cavalieri S, Brusco A. Pozzi E, et al. Among authors: ferrero m. Sci Rep. 2020 Nov 19;10(1):20182. doi: 10.1038/s41598-020-77352-z. Sci Rep. 2020. PMID: 33214630 Free PMC article.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: ferrero m. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC article.
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: ferrero gb, ferrero m. Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19. Eur J Paediatr Neurol. 2017. PMID: 28027854 Free article.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F. Mancini C, et al. Among authors: ferrero e, ferrero m. Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30. Neurobiol Dis. 2019. PMID: 30389403 Free article.
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
Giorgio E, Lorenzati M, Rivetti di Val Cervo P, Brussino A, Cernigoj M, Della Sala E, Bartoletti Stella A, Ferrero M, Caiazzo M, Capellari S, Cortelli P, Conti L, Cattaneo E, Buffo A, Brusco A. Giorgio E, et al. Among authors: ferrero m. Brain. 2019 Jul 1;142(7):1905-1920. doi: 10.1093/brain/awz139. Brain. 2019. PMID: 31143934 Free article.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy.
Giorgio E, Pesce E, Pozzi E, Sondo E, Ferrero M, Morerio C, Borrelli G, Della Sala E, Lorenzati M, Cortelli P, Buffo A, Pedemonte N, Brusco A. Giorgio E, et al. Among authors: ferrero m. Hum Mutat. 2021 Jan;42(1):102-116. doi: 10.1002/humu.24147. Epub 2020 Dec 8. Hum Mutat. 2021. PMID: 33252173 Free article.
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B. Manes M, et al. Among authors: ferrero m. Ann Neurol. 2017 Oct;82(4):615-621. doi: 10.1002/ana.25059. Epub 2017 Oct 22. Ann Neurol. 2017. PMID: 28976605 Free PMC article. Clinical Trial.
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