Results 21 to 30 of about 2,106 (148)

Predictive risk factors of phenoconversion in idiopathic REM sleep behavior disorder: the Italian study “FARPRESTO” [PDF]

, 2022
Most patients with idiopathic REM sleep behavior disorder (iRBD) will develop an overt α-synucleinopathy over time, with a rate of phenoconversion of 73.5% after 12 years from diagnosis.
Figorilli M., Arnaldi D., Gigli G. L., d'Aloja E., Ferini-Strambi L., Maestri M., Antelmi Elena., and the FARPRESTO Consortium., Ferri R., Terzaghi M., Plazzi G., Antelmi E., Ingravallo F., Puligheddu M., Casaglia E.   +14 more
core   +3 more sources

Unawareness of motor phenoconversion in Huntington disease [PDF]

Neurology, 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 A, McCusker, David G, Gunn, Eric A, Epping, Clement T, Loy, Kylie, Radford, Jane, Griffith, James A, Mills, Jeffrey D, Long, Jane S, Paulsen   +8 more
openaire   +2 more sources

Predicting phenoconversion in pure autonomic failure

Neurology, 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, Jay N, Mandrekar, Sarah E, Berini, Eduardo E, Benarroch, Paola, Sandroni, Phillip A, Low, Wolfgang, Singer   +6 more
openaire   +3 more sources

Dopaminergic damage pattern predicts phenoconversion time in isolated rapid eye movement sleep behavior disorder

, 2023
PURPOSE The exact phenoconversion time from isolated rapid eye movement (REM) sleep behavior disorder (iRBD) to synucleinopathies remains unpredictable. This study investigated whole-brain dopaminergic damage pattern (DDP) with disease progression and
Lin, Huamei, Shujun Zhao, Tianhao Zhang, Zhao, Shilun, Li, Xiuming, Shi, Kuangyu, Guan, Yihui, Ping Wu, Yihui Guan, Shuang Feng, Jianjun Wu, Binbin Nie, Shan, Baoci, Xu, Qian, Zhang, Tianhao, Shilun Zhao, Zuo, Chuantao, Xiuming Li, Chuantao Zuo, Baoci Shan, Huan Yu, Wu, Jianjun, Feng, Shuang, Ge, Jingjie, Huamei Lin, Yu, Huan, Jingjie Ge, Qian Xu, Zhao, Shujun, Wu, Ping, Kuangyu Shi, Nie, Binbin   +31 more
core   +1 more source

Pitfalls and challenges associated with phenoconversion in forensic toxcicology

Forensic Science International: Genetics, 2021
In recent years, several publications have demonstrated the interest and the usefulness of pharmacogenetics in forensic toxicology. However, this approach remains namely focused on DNA-based phenotype, which may potentially lead to misinterpretation.
Drevin, G., Picard, N., Jousset, N., Briet, M., Abbara, C.   +4 more
openaire   +3 more sources

Phenoconversion and therapeutic drug monitoring [PDF]

British Journal of Clinical Pharmacology, 2015
Keywords: clobazam; clozapine; genotype–phenotype mismatch; personalized medicine; pharmacogenetics; risperidone; therapeutic drug monitoring ...
openaire   +2 more sources

Phenoconversion of CYP2D6 by inhibitors modifies aripiprazole exposure [PDF]

European Archives of Psychiatry and Clinical Neuroscience, 2019
The efficacy of aripiprazole therapy and the risk of adverse reactions are influenced by substantial inter-individual variability in aripiprazole metabolizing capacity. In vitro studies assigned the potential role in aripiprazole metabolism to CYP2D6 and CYP3A enzymes; therefore, the association between the steady-state aripiprazole plasma ...
Ádám Kiss, Ádám Menus, Katalin Tóth, Máté Déri, Dávid Sirok, Evelyn Gabri, Ales Belic, Gábor Csukly, István Bitter, Katalin Monostory   +9 more
openaire   +3 more sources

Sleep Disturbances and Phenoconversion in Patients with REM Sleep Behavior Disorder [PDF]

Journal of Clinical Medicine, 2021
Objective: We aimed to investigate relationships between sleep disturbances and phenoconversion to neurodegenerative diseases in patients with REM sleep behavior disorder (RBD). Method: Using a comprehensive sleep database in a university-affiliated hospital between December 2014 and March 2021, we reviewed the data of 226 patients with RBD (182 ...
Hyunjin Jo, Dongyeop Kim, Jooyeon Song, Sujung Choi, Eunyeon Joo   +4 more
openaire   +2 more sources

Cardiosomal microRNAs Are Essential in Post-Infarction Myofibroblast Phenoconversion [PDF]

International Journal of Molecular Sciences, 2019
The inclusion of microRNAs (miRNAs) in extracellular microvesicles/exosomes (named cardiosomes when deriving from cardiomyocytes) allows their active transportation and ensures cell-cell communication. We hypothesize that cardiosomal miRNAs play a pivotal role in the activation of myofibroblasts following ischemic injury.
Morelli Marco Bruno, Shu J, Sardu Celestino, Matarese Alessandro, Santulli Gaetano   +4 more
openaire   +5 more sources

Table_1_Quantifying the Impact of Phenoconversion on Medications With Actionable Pharmacogenomic Guideline Recommendations in an Acute Aged Persons Mental Health Setting.DOCX

, 2021
Introduction: Polypharmacy and genetic variants that strongly influence medication response (pharmacogenomics, PGx) are two well-described risk factors for adverse drug reactions.
Carl M. J. Kirkpatrick (11294292), David Huppert (11294289), Thomas M. Polasek (11294283), Sam Mostafa (11294280), Leslie J. Sheffield (11294286)   +4 more
core   +1 more source