Results 121 to 130 of about 1,541,460 (327)

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

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

Peripheral neuropathy in inflammatory joint diseases [PDF]

open access: yes, 2018
Background: For frequent extra-articular (systemic) manifestations of joints inflammatory diseases are various damage of the nervous system,2 and the presence and severity of peripheral neuropathy (PNP) have significance in the clinical course, which ...
Bevzenko, T.   +2 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

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini   +7 more
wiley   +1 more source

Interplay between androgen and CXCR4 chemokine signaling in myelin repair

open access: yesActa Neuropathologica Communications
In men, reduced levels of testosterone are associated with the prevalence and progression of multiple sclerosis (MS), a chronic and disabling demyelinating disorder. Testosterone has been shown to promote myelin repair.
Narimène Asbelaoui   +7 more
doaj   +1 more source

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