렘수면행동장애에서 질병전환과 관련된 뇌파 주파수-공간 패턴 규명 [PDF]
, 2023 학위논문(석사) -- 서울대학교대학원 : 공과대학 협동과정 바이오엔지니어링전공, 2023. 8. 정기영.Objective: This study aimed to identify EEG spectro-spatial covariance patterns associated with phenoconversion in patients with isolated REM sleep behavior disorder (iRBD) and investigate the ...
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Accurate Detection of α-Synuclein Seeds in Cerebrospinal Fluid from Isolated Rapid Eye Movement Sleep Behavior Disorder and Patients with Parkinson\u27s Disease in the DeNovo Parkinson (DeNoPa) Cohort [PDF]
, 2023 BACKGROUND: Misfolded α-synuclein (αSyn) aggregates (αSyn-seeds) in cerebrospinal fluid (CSF) are biomarkers for synucleinopathies such as Parkinson\u27s disease (PD).
Concha-Marambio, Luis +14 more
core +1 more source
51 Does simultaneous tonic and phasic REM sleep without atonia predict phenoconversion to overt neurodegenerative disease in idiopathic REM sleep behaviour disorder? [PDF]
, 2021 Ankur Singh +2 more
openalex +1 more source
Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2575-2588, December 2025.ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan +46 more
wiley +1 more source
Precision anesthesia and pharmacogenomics: a scoping review of personalized drug response
Frontiers in AnesthesiologyBackgroundAnesthetic agent selection and dosing have historically relied on empirical models without taking into account inter-individual variability in drug response, leading to adverse drug reactions (ADRs).
Sarina Nikzad +2 more
doaj +1 more source
Genetic Modifiers of Parkinson's Disease: A Case–Control Study
Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2482-2494, December 2025.ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik +15 more
wiley +1 more source
Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72
Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2470-2481, December 2025.ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García +3 more
wiley +1 more source
Brain olfactory‐related atrophy in isolated rapid eye movement sleep behavior disorder
Annals of Clinical and Translational Neurology, 2023 Objective To investigate structural and functional connectivity changes in brain olfactory‐related structures in a longitudinal prospective cohort of isolated REM sleep behavior disorder (iRBD) and their clinical correlations, longitudinal evolution, and
Kyung Ah Woo +7 more
doaj +1 more source
Quantifying multimodal longitudinal brain changes in presymptomatic C9orf72 disease
Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.Abstract INTRODUCTION The presymptomatic phase of frontotemporal dementia and amyotrophic lateral sclerosis associated with C9orf72 repeat expansion features widespread structural brain changes. We aimed at fulfilling the unmet need of quantitative magnetic resonance imaging (MRI)‐derived measures suitable for disease tracking.
Dario Saracino +15 more
wiley +1 more source
Frontiers in PharmacologyThe University of Florida Health Precision Medicine Program plays a crucial role in delivering pharmacogenomics (PGx) result notes to providers who request PGx testing.
Nina Desai +10 more
doaj +1 more source