Results 111 to 120 of about 30,853 (284)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer   +11 more
wiley   +1 more source

SYHA1813, A VEGFR and CSF1R Inhibitor, in Patients With Recurrent High‐Grade Gliomas: A Multicenter, Open‐Label Phase I Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recurrent high‐grade gliomas have a poor prognosis and limited therapeutic options. This study aimed to evaluate the safety and efficacy of SYHA1813, a dual inhibitor of VEGFR and CSF1R, in patients with recurrent high‐grade gliomas.
Zhuang Kang   +16 more
wiley   +1 more source

Development of a personalized visualization and analysis tool to improve clinical care in complex multisystem diseases with application to scleroderma

open access: yesArthritis Care &Research, Accepted Article.
Background In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of a scleroderma patient's ...
Ji Soo Kim   +18 more
wiley   +1 more source

Biphasic lung diffusing capacity: detection of early asbestos induced changes in lung function. [PDF]

open access: bronze, 1992
Željko Dujić   +4 more
openalex   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

open access: yesArthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla   +13 more
wiley   +1 more source

Heterogeneity of Rheumatoid Arthritis‐Associated Interstitial Lung Disease by Longitudinal Forced Vital Capacity Trajectory and Associations with Disease Outcomes

open access: yesArthritis Care &Research, Accepted Article.
Objective We aimed to identify unique disease trajectories within rheumatoid arthritis‐associated interstitial lung disease (RA‐ILD) based on longitudinal forced vital capacity (FVC) values and their associated clinical outcomes. Methods We performed a cohort study of RA‐ILD within the Veterans Health Administration from 1999‐2021. RA‐ILD patients were
Bryant R. England   +9 more
wiley   +1 more source

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