Results 241 to 250 of about 4,645,684 (346)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting   +12 more
wiley   +1 more source

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato   +5 more
wiley   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez   +12 more
wiley   +1 more source

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