Raul Perez-Olle, Ph.D.

Cytoskeleton

Ronald K. H. Liem	grad student	2003	Columbia
(Genotype-phenotype characterization of neurofilament light gene mutations linked to Charcot -Marie -Tooth disease.)

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KabziÅ„ska D, Perez-Olle R, Goryunov D, et al. (2006) Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models. Journal of the Peripheral Nervous System : Jpns. 11: 225-31
Chen HJ, Lin CM, Lin CS, et al. (2006) The role of microtubule actin cross-linking factor 1 (MACF1) in the Wnt signaling pathway. Genes & Development. 20: 1933-45
Perez-Olle R, Lopez-Toledano MA, Liem RK. (2004) The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants. Journal of Neuropathology and Experimental Neurology. 63: 759-74
Perez-Olle R, Jones ST, Liem RK. (2004) Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Human Molecular Genetics. 13: 2207-20
Perez-Olle R, Leung CL, Liem RK. (2002) Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. Journal of Cell Science. 115: 4937-46