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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C. Sancho P, et al. Among authors: kennerson m. Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006. Hum Mol Genet. 2019. PMID: 30624633
CMT with pyramidal features. Charcot-Marie-Tooth.
Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. Vucic S, et al. Among authors: kennerson m. Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71. Neurology. 2003. PMID: 12601114
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Züchner S, et al. Among authors: kennerson m. Nat Genet. 2005 Mar;37(3):289-94. doi: 10.1038/ng1514. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731758
105 results