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American journal of human genetics, v.98 no.4, 2016년, pp.597 - 614
Rebelo, Adriana P. , Abrams, Alexander J. , Cottenie, E. , Horga, A. , Gonzalez, M. , Bis, Dana M. , Sanchez-Mejias, A. , Pinto, M. , Buglo, E. , Markel, K. , Prince, J. , Laura, M. , Houlden, H. , Blake, J. , Woodward, C. , Sweeney, Mary G. , Holton, Janice L. , Hanna, M. , Dallman, Julia E. , Auer-Grumbach, M. , Reilly, Mary M. , Zuchner, S.
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Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein aggregation induced by an unusual mutation event in families affected by axonal neuropathy. These families carry distinct frameshift variants i...
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