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Page 1
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: brusco a. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
Mutations in the lamin B1 gene are not present in multiple sclerosis.
Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: brusco a. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. Mancini C, et al. Among authors: brusco a. Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552818 Free article.
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. Klebe S, et al. Among authors: brusco a. Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240. Brain. 2012. PMID: 23065789 Free PMC article.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: brusco a. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: brusco a. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. Mancini C, et al. Among authors: brusco a. J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31. J Neurol. 2015. PMID: 25359263 Free article.
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: brusco a. Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108886 Free 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: brusco a. 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.
314 results