Results 191 to 200 of about 912,024 (248)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein   +7 more
wiley   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo   +9 more
wiley   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew   +11 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel   +5 more
wiley   +1 more source

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