Results 121 to 130 of about 238,994 (223)

A Case with Absence Seizures After Neuroimaging Changes of Rasmussen Syndrome [PDF]

open access: bronze, 2000
Erik Yamanaka   +6 more
openalex   +1 more source

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the TRACK‐FA Study

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospective, longitudinal, multi‐modal neuroimaging study in Friedreich ataxia to date.
Nellie Georgiou‐Karistianis   +33 more
wiley   +1 more source

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant‐Specific Disease Prediction

open access: yesAnnals of Neurology, EarlyView.
Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine   +10 more
wiley   +1 more source

Cholinergic Degeneration and Cognitive Function in Early GBA1‐Related Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective The phenotype of patients with Parkinson's disease carrying GBA1 variants (GBA‐PD) suggest similarities to symptomatology associated with early cholinergic system degeneration. Therefore, this study aims to investigate the clinical features and the cholinergic innervation pattern in patients with early GBA‐PD versus those without the GBA1 ...
Sofie Slingerland   +6 more
wiley   +1 more source

Detecting New Lesions Using a Large Language Model: Applications in Real‐World Multiple Sclerosis Datasets

open access: yesAnnals of Neurology, EarlyView.
Objective Neuroimaging is routinely utilized to identify new inflammatory activity in multiple sclerosis (MS). A large language model to classify narrative magnetic resonance imaging reports in the electronic health record (EHR) as discrete data could provide significant benefits for MS research. The objectives of the current study were to develop such
Shane Poole   +14 more
wiley   +1 more source

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