Results 291 to 300 of about 4,218,282 (383)

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
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, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Analysis of Soluble Interleukin‐2 Receptor as a Prognostic Biomarker in NMOSD and MOGAD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Soluble interleukin‐2 receptor (sIL‐2R) is a biomarker for T cell activity. T cells are involved in neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) pathogenesis. However, sIL‐2R has so far not been evaluated in these conditions.
Philipp Klyscz, Carolin Otto, Klemens Ruprecht, Susanna Asseyer, Hannes Ole Tiedt, Christian Meisel, Judith Bellmann‐Strobl, Friedemann Paul, Patrick Schindler   +8 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Precision medicine and clinical ophthalmology

Indian Journal of Ophthalmology, 2018
Bradley R Straatsma
doaj   +1 more source

Correction to "Comparing functional and genomic-based precision medicine in blood cancer patients". [PDF]

Hemasphere
europepmc   +1 more source

How genomics and multi-modal AI are reshaping precision medicine. [PDF]

Front Med (Lausanne)
Zhuang H.
europepmc   +1 more source

Moyamoya Disease and the Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo, Jeong‐Yong Shin, Rugyeom Lee, Jiwon Cheon, Ji Hun Kim, Doeun Kim, Jae‐Kyung Won, In‐Hwan Oh, Yunjong Lee, Tae‐Beom Ahn   +9 more
wiley   +1 more source

Editorial: Computational genomic and precision medicine. [PDF]

Front Genet
Ahmed Z, Thirunavukarasu R, Khan A.
europepmc   +1 more source

Prevalence of Stroke and Diagnostic Performance of Emergency MRI in Acute Isolated Dizziness

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke is frequently misdiagnosed in patients presenting with acute isolated dizziness; the optimal imaging modality for this population remains debated. This study aimed to determine the prevalence of stroke among patients with isolated dizziness and to assess the diagnostic accuracy of magnetic resonance imaging (MRI) and computed ...
Xiao Hu, Sijia Liu, Xiaosan Wu, Sunhong Yan, Jie Shen, Lei Zhu, Xueyun Liu, Zijie Wang, Chu Chen, Tiannan Yang, Chuanqin Fang, Qi Li   +11 more
wiley   +1 more source

Precision Medicine: Seeing the Tree in the Forest! [PDF]

J Kidney Cancer VHL
Vaishampayan U.
europepmc   +1 more source