Results 221 to 230 of about 60,233 (294)

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

Fatty acids and fatty alcohol esters as novel markers of authenticity and extraction method of commercial avocado oil. [PDF]

open access: yesFood Chem X
Marín-Obispo LM   +8 more
europepmc   +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

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund   +3 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

Fault diagnosis method of rolling bearing based on SSA-VMD and RCMDE. [PDF]

open access: yesSci Rep
Wang X   +7 more
europepmc   +1 more source

<i>A</i>CrF<sub>3</sub> Jahn-Teller-Distorted Fluoroperovskites: Expanding to RbCrF<sub>3</sub> and CsCrF<sub>3</sub>. [PDF]

open access: yesInorg Chem
Fjellvåg ØS   +9 more
europepmc   +1 more source

Condition Monitoring of In-Service DFIGs Working Under Non-Stationary Conditions via NsHOTA: A Motor Current Signature Approach. [PDF]

open access: yesSensors (Basel)
Delfa-Baena S   +5 more
europepmc   +1 more source

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