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Page 1
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A. Giorgio E, et al. Among authors: vaula g. J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7. J Neurol Sci. 2015. PMID: 25873210 Free 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: vaula g. 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.
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).
Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L. Borroni B, et al. Among authors: vaula g. Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27. Parkinsonism Relat Disord. 2016. PMID: 27143115 Free PMC article.
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: vaula g. Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552818 Free article.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. Giorgio E, et al. Among authors: vaula g. Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20. Hum Mol Genet. 2015. PMID: 25701871 Free PMC article.
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: vaula g. 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.
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: vaula g. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: vaula g. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.
59 results