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ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Among authors: gaudiello f. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
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: gaudiello f. 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.
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. Among authors: gaudiello f. Mov Disord. 2005 Aug;20(8):1055-9. doi: 10.1002/mds.20494. Mov Disord. 2005. PMID: 15858810
37 results