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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: bernardi g. 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.
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.
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
Orlacchio A, Calabresi P, Rum A, Tarzia A, Salvati AM, Kawarai T, Stefani A, Pisani A, Bernardi G, Cianciulli P, Caprari P. Orlacchio A, et al. Among authors: bernardi g. BMC Neurol. 2007 Feb 13;7:4. doi: 10.1186/1471-2377-7-4. BMC Neurol. 2007. PMID: 17298666 Free PMC article.
1,647 results