Results 271 to 280 of about 2,502,152 (334)

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

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

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

open access: yesAnnals 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   +11 more
wiley   +1 more source

Documentation update for GeoPEARL_3.3.3. [PDF]

open access: yes
Berg, F., van den   +5 more
core   +1 more source

SURVEY OF PRIVATE COPYRIGHT DOCUMENTATION SYSTEMS AND PRACTICES [PDF]

open access: yes, 2011
De Martin, Juan Carlos   +5 more
core  

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

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