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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: kawarai t. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 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. Among authors: kawarai t. Mov Disord. 2005 Aug;20(8):1055-9. doi: 10.1002/mds.20494. Mov Disord. 2005. PMID: 15858810
MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
Kawarai T, Yamasaki K, Mori A, Takamatsu N, Osaki Y, Banzrai C, Miyamoto R, Oki R, Pedace L, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Takashima H, Nishida Y, Izumi Y, Kaji R. Kawarai T, et al. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6. J Neurol Neurosurg Psychiatry. 2016. PMID: 27154191 No abstract available.
172 results