Results 21 to 30 of about 1,759 (167)

Unawareness of motor phenoconversion in Huntington disease [PDF]

open access: greenNeurology, 2013
To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs.We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed ...
Elizabeth McCusker   +8 more
openalex   +4 more sources

Predicting phenoconversion in pure autonomic failure

open access: greenNeurology, 2020
To determine predicting factors and frequency of phenoconversion from pure autonomic failure (PAF) into a synucleinopathy with motor or cognitive involvement of multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB).We performed a retrospective review of all patients with PAF from 2001 to 2011 evaluated at Mayo Clinic,
Elizabeth A. Coon   +6 more
openalex   +5 more sources

Effect of CYP2D6, 2C19, and 3A4 Phenoconversion in Drug-Related Deaths

open access: yesToxics
Molecular autopsy is a very important tool in forensic toxicology. However, many determinants, such as co-medication and physiological parameters, should be considered for optimal results.
Sanaa M. Aly   +3 more
doaj   +4 more sources

Dopaminergic imaging and clinical predictors for phenoconversion of REM sleep behaviour disorder [PDF]

open access: greenBrain, 2020
Abstract This is an international multicentre study aimed at evaluating the combined value of dopaminergic neuroimaging and clinical features in predicting future phenoconversion of idiopathic REM sleep behaviour (iRBD) subjects to overt synucleinopathy.
Dario Arnaldi   +32 more
openalex   +8 more sources

The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data [PDF]

open access: yesPharmacogenomics and Personalized Medicine
Nina L Wittwer,1,2 Christoph R Meier,1– 3 Carola A Huber,4 Julie D Moser,1 Henriette E Meyer zu Schwabedissen,5 Samuel S Allemann,6,* Cornelia Schneider1,2,* 1Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology,
Wittwer NL   +6 more
doaj   +2 more sources

Addressing phenoconversion: the Achilles' heel of personalized medicine [PDF]

open access: bronzeBritish Journal of Clinical Pharmacology, 2014
Phenoconversion is a phenomenon that converts genotypic extensive metabolizers (EMs) into phenotypic poor metabolizers (PMs) of drugs, thereby modifying their clinical response to that of genotypicPMs. Phenoconversion, usually resulting from nongenetic extrinsic factors, has a significant impact on the analysis and interpretation of genotype‐focused ...
Rashmi R. Shah, Robert L. Smith
openalex   +4 more sources

EEG alpha peak frequency: cognitive impairment severity marker in isolated REM sleep behavior disorder [PDF]

open access: yesnpj Parkinson's Disease
Isolated REM sleep behavior disorder (iRBD) is a prodrome of α-synucleinopathies like Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). The best marker for prediction of lead time to phenoconversion is reduced striatal dopamine transporter ...
Sophia Schopp   +7 more
doaj   +2 more sources

The Evaluation of CYP2D6, CYP2C9, CYP2C19, and CYP2B6 Phenoconversion in Post-Mortem Casework: The Challenge of Forensic Toxicogenetics

open access: yesMetabolites, 2023
In toxicogenetics, an integrative approach including the prediction of phenotype based on post-mortem genotyping of drug-metabolising enzymes might help explain the cause of death (CoD) and manner of death (MoD).
Arianna Giorgetti   +7 more
doaj   +1 more source

Phenoconversion of Cytochrome P450 Metabolism: A Systematic Review [PDF]

open access: yesJournal of Clinical Medicine, 2020
Phenoconversion is the mismatch between the individual’s genotype-based prediction of drug metabolism and the true capacity to metabolize drugs due to nongenetic factors. While the concept of phenoconversion has been described in narrative reviews, no systematic review is available.
Henk-Jan Guchelaar   +4 more
openaire   +3 more sources

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