Articles with "nipa1 mutations" as a keyword



Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

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Published in 2023 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51724

Abstract: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in… read more here.

Keywords: spastic paraplegia; paraplegia; hereditary spastic; genetic characterization ... See more keywords