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343 results

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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: orlacchio a. 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.
Clinical and genetic study of a large SPG4 Italian family.
Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A, Floris R, St George-Hyslop PH, Sorbi S, Bernardi G. Orlacchio A, et al. Mov Disord. 2005 Aug;20(8):1055-9. doi: 10.1002/mds.20494. Mov Disord. 2005. PMID: 15858810
Research actuality in the genetics of stroke.
Orlacchio A, Bernardi G. Orlacchio A, et al. Clin Exp Hypertens. 2006 Apr-May;28(3-4):191-7. doi: 10.1080/10641960600549066. Clin Exp Hypertens. 2006. PMID: 16833024 Free article. Review.
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M. Matsui M, et al. Among authors: orlacchio a. J Neurol. 2007 Jul;254(7):972-4. doi: 10.1007/s00415-006-0446-y. Epub 2007 Mar 22. J Neurol. 2007. PMID: 17380240 No abstract available.
Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.
Carosi L, Lo Giudice T, Di Lullo M, Lombardi F, Babalini C, Gaudiello F, Marfia GA, Massa R, Kawarai T, Orlacchio A. Carosi L, et al. Among authors: orlacchio a. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28. J Neurol Neurosurg Psychiatry. 2015. PMID: 25352184 Free PMC article. No abstract available.
343 results