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Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia

Parkinsonism & Related Disorders, 2019
Mutations in the glucocerebrosidase (GBA) gene are strongly associated with REM sleep behavior disorder (RBD). It is unclear whether GBA mutations might affect clinical phenotype or rate of phenoconversion to parkinsonism or dementia.We sequenced GBA in polysomnographic-proven idiopathic RBD (iRBD) patients.
Lucy Honeycutt   +8 more
openaire   +3 more sources

Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion

Annals of Neurology, 2018
ObjectiveTo evaluate neurofilament light (NfL) as a biomarker of the presymptomatic phase of amyotrophic lateral sclerosis (ALS).MethodsThe study population includes 84 individuals at risk for developing ALS, 34 controls, 17 ALS patients, and 10 phenoconverters (at‐risk individuals observed both before and after the emergence of clinically manifest ...
Benatar, M   +4 more
openaire   +4 more sources

An Illustrative Case of Phenoconversion due to Multi-Drug Interactions

2020
The study of pharmacogenetics aids in the identification of variable therapeutic responses, identification of adverse reactions to drugs, and supports development and discovery. While advances in pharmacogenetic testing have been significant in recent years, The U.S.
openaire   +1 more source

Phenoconversion of Czech idiopathic REM sleep behavior disorder patients

Sleep Medicine, 2017
Lenka Plchová   +7 more
openaire   +2 more sources

Methodological Considerations on CYP2D6 Phenoconversion Due to Drug–Drug Interaction

Clinical Pharmacology & Therapeutics, 2019
Gerd Mikus   +2 more
openaire   +2 more sources

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