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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D'Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Schöls L, Orlacchio A, Reid E, Züchner S. Montenegro G, et al. Among authors: bernardi g. J Clin Invest. 2012 Feb;122(2):538-44. doi: 10.1172/JCI60560. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232211 Free PMC article.
Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawarai T. Orlacchio A, et al. Among authors: bernardi g. J Neurol Neurosurg Psychiatry. 2008 May;79(5):606-7. doi: 10.1136/jnnp.2007.128827. Epub 2007 Oct 30. J Neurol Neurosurg Psychiatry. 2008. PMID: 17971434 No abstract available.
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: bernardi g. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158
Research actuality in the genetics of stroke.
Orlacchio A, Bernardi G. Orlacchio A, et al. Among authors: bernardi g. Clin Exp Hypertens. 2006 Apr-May;28(3-4):191-7. doi: 10.1080/10641960600549066. Clin Exp Hypertens. 2006. PMID: 16833024 Free article. Review.
1,658 results