Results 101 to 110 of about 24,153,656 (297)

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

STRUCTURAL AND FUNCTIONAL ALTERATIONS AT THE BLOOD-BRAIN BARRIER IN A MOUSE MODEL FOR MCT8 DEFICIENCY

open access: yesIBRO Neuroscience Reports, 2023
Ana Montero-Pedrazuela   +3 more
doaj   +1 more source

A nomenclature consensus for nervous system organoids and assembloids

open access: yesNature, 2022
S. Pașca   +18 more
semanticscholar   +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

LBA3 Compartmental radioimmunotherapy (cRIT) 131I-OMBURTAMAB in patients with neuroblastoma (NB) central nervous system (CNS) and/or leptomeningeal (LM) metastases: Updated results from pivotal Trial 101

open access: gold, 2022
Ellen M. Basu   +13 more
openalex   +1 more source

Nervous system involvement after infection with COVID-19 and other coronaviruses

open access: yesBrain, behavior, and immunity, 2020
Yeshun Wu   +7 more
semanticscholar   +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

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