Results 241 to 250 of about 1,101,141 (313)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

An MRI assessment of mechanisms underlying lesion growth and shrinkage in multiple sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
By applying the tensor model, we analysed lesion orientation and the directionality of lesion expansion/contraction in multiple sclerosis. Each lesion is summarized as an ellipsoid, and the tensor model is applied to calculate lesion anisotropy. From the top to the bottom white matter atlas, surface‐in gradient segmentation and venous atlas used in the
Ermelinda De Meo   +9 more
wiley   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe   +15 more
wiley   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks   +20 more
wiley   +1 more source

Variation in predictors of primary care career choice by year and stage of training

open access: green, 2003
Maureen T. Connelly   +8 more
openalex   +2 more sources

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