Results 11 to 20 of about 3,015 (189)

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure [PDF]

Annals of Clinical and Translational Neurology
Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including ...
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
doaj   +3 more sources

Predicting Phenoconversion in Isolated RBD: Machine Learning and Explainable AI Approach [PDF]

Clocks & Sleep
Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is recognized as a precursor to neurodegenerative diseases. This study aimed to develop predictive models for the timing and subtype of phenoconversion in iRBD.
Yong-Woo Shin, Jung-Ick Byun, Jun-Sang Sunwoo, Chae-Seo Rhee, Jung-Hwan Shin, Han-Joon Kim, Ki-Young Jung   +6 more
doaj   +4 more sources

Pharmacogenetics and phenoconversion: the influence on side effects experienced by psychiatric patients

Frontiers in Genetics, 2023
Introduction: Preventing side effects is important to ensure optimal psychopharmacotherapy and therapeutic adherence among psychiatric patients. Obtaining the pharmacogenetic profile of CYP2C19 and CYP2D6 can play an important role in this.
Manon G. den Uil, Hannelotte W. Hut, Kay R. Wagelaar, Kay R. Wagelaar, Heshu Abdullah-Koolmees, Heshu Abdullah-Koolmees, Wiepke Cahn, Ingeborg Wilting, Vera H. M. Deneer, Vera H. M. Deneer   +9 more
doaj   +6 more sources

Pedunculopontine-thalamic cholinergic projections in rapid eye movement sleep behaviour disorder [PDF]

npj Parkinson's Disease
Cholinergic system degeneration is a hallmark of Lewy body disease, including Parkinson’s disease (PD) and dementia with Lewy bodies (DLB), but its involvement in prodromal stages, particularly regarding pedunculopontine-thalamic projections, remains ...
Julia Schumacher, Stefan Teipel, Alexander Storch, Wiebke Hermann   +3 more
doaj   +2 more sources

The impact of CYP2C19 genotype on phenoconversion by concomitant medication

Frontiers in Pharmacology, 2023
Introduction: Pharmacogenetics-informed drug prescribing is increasingly applied in clinical practice. Typically, drug metabolizing phenotypes are determined based on genetic test results, whereupon dosage or drugs are adjusted.
Laura M. de Jong, Soukayna Boussallami, Elena Sánchez-López, Martin Giera, Maarten E. Tushuizen, Menno Hoekstra, Lukas J. A. C. Hawinkels, Robert Rissmann, Robert Rissmann, Robert Rissmann, Jesse J. Swen, Martijn L. Manson   +11 more
doaj   +6 more sources

Susceptibility and diffusion MRI biomarkers predict development of Parkinsonism in iRBD [PDF]

npj Parkinson's Disease
Quantitative MRI techniques, including quantitative susceptibility mapping (QSM) and diffusion tensor imaging (DTI), may detect early neurodegenerative changes in ɑ-synucleinopathies, especially within the midbrain.
Zsoka Varga, Jiri Nepozitek, Jan Hlavnicka, Jiri Keller, Abhineet Ojha, Patrizia Pantano, Stanislav Marecek, Karel Sonka, Petr Dusek   +8 more
doaj   +2 more sources

Gait dysfunction as an early marker of phenoconversion in REM sleep behavior disorder [PDF]

Scientific Reports
Clinical isolated REM Sleep Behavior Disorder (iRBD) is a prodromal stage of α-synucleinopathies such as Parkinson’s disease (PD). Longitudinal changes of gait as a marker of phenoconversion in iRBD have not been systematically evaluated yet.
Wiebke Hermann, Aleyna Sankutlu, Lydia Nabers, Tony Sehr, Katrin Trentzsch, Markus Donix, Heinz Reichmann, Moritz D. Brandt, Alexander Storch, Tjalf Ziemssen   +9 more
doaj   +2 more sources

CD4+ T-cell transcription factors as early predictors of phenoconversion in idiopathic rapid eye movement sleep behaviour disorder [version 2; peer review: 2 approved] [PDF]

F1000Research
In this datanote we present data from 31 iRBD (idiopathic Rapid eye movement (REM) sleep Behaviour Disorder) patients followed throughout three years to assess their eventual phenoconversion to Parkinson’s disease and other established neurodegenerative ...
Maurizio Versino, Cristoforo Comi, Franca Marino, Michele Terzaghi, Monica Pinoli, Marco Cosentino   +5 more
doaj   +2 more sources

Serum p‐tau217 Is a Prognostic Indicator of Cognitive Impairment in Idiopathic REM Sleep Behavior Disorder [PDF]

Annals of Neurology, Volume 99, Issue 4, Page 912-921, April 2026.
Objective Assess the performance of serum phosphorylated tau 217 (p‐tau217) and neurofilament light chain (NfL) in predicting risk of cognitive impairment or phenoconversion to dementia in individuals with iRBD. Methods We measured serum p‐tau217 and NfL levels by electrochemiluminescence across 4 polysomnographically confirmed iRBD cohorts (n = 300 ...
Shijun Yan, Anis Sahoo, Tanja Zerenner, Kenneth Marek, Michael Sommerauer, Wolfgang Oertel, Michele T. Hu, George K. Tofaris   +7 more
wiley   +2 more sources

‘Phenoconversion’ in adult patients with β-thalassemia [PDF]

, 2023
To the Editor: Patients with clinically significant forms of β-thalassemia have been historically classified as having a β-thalassemia major or β-thalassemia intermedia phenotype, with the first primarily referring to patients who present with severe ...
Annamaria Pasanisi, Barbara Gianesin, Filomena Longo, Gian Luca Forni, Giovanni Battista Ferrero, Khaled M. Musallam, Lucia De Franceschi, Raffaella Origa, Roberto Lisi, Susanna Barella   +9 more
core   +2 more sources