Results 301 to 310 of about 11,399,320 (390)

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

open access: yesAnnals 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   +5 more
wiley   +1 more source

Tempol protects blood proteins and lipids against peroxynitrite-mediated oxidative damage. [PDF]

open access: yesExp Biol Med (Maywood), 2015
Mustafa AG   +3 more
europepmc   +1 more source

Moyamoya Disease and the Risk of Parkinson's Disease

open access: yesAnnals 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   +9 more
wiley   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit   +5 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

A Multi‐Center Retrospective Cohort Study of Neurosarcoidosis Myelitis: Current Observations and Future Directions

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano   +39 more
wiley   +1 more source

The Impact of Tilburg Frailty on Poststroke Fatigue in First‐Ever Stroke Patients: A Cross‐Sectional Study With Unified Measurement Tools and Improved Statistics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen   +6 more
wiley   +1 more source

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