Articles with "gba mutation" as a keyword



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Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease

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Published in 2017 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2017.08.3249

Abstract: BACKGROUND Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and… read more here.

Keywords: disease; parkinson disease; gba mutation; clinical profiles ... See more keywords
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Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

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Published in 2021 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2021.635958

Abstract: Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden… read more here.

Keywords: mutation carriers; glucocerebrosidase gba; non manifesting; gba mutation ... See more keywords