Results 181 to 190 of about 12,470,437 (381)

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

LINC00323 variant is associated with increased risk of essential tremor

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan   +11 more
wiley   +1 more source

An Overview on the Physiopathology of the Blood–Brain Barrier and the Lipid-Based Nanocarriers for Central Nervous System Delivery

open access: yesPharmaceutics
The state of well-being and health of our body is regulated by the fine osmotic and biochemical balance established between the cells of the different tissues, organs, and systems.
Francesca Susa   +3 more
doaj   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

A retrospective study of quadrigeminal arachnoid cysts diagnosed by Magnetic Resonance Imaging and Computed Tomography in 26 dogs

open access: yesPesquisa Veterinária Brasileira
: Arachnoid cysts are accumulations of cerebrospinal fluid that occur within the arachnoid membrane due to the splitting or duplication of this structure.
Lidiane S. Alves   +5 more
doaj   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki   +5 more
wiley   +1 more source

Meditation and the brain in health and disease

open access: yes, 2018
The aim of this chapter is to provide an accessible introduction to the neuroscience of meditation. First, we review studies examining the relationship between meditation and alterations in the structure of the brain’s grey and white matter (so-called morphometric neuroimaging).
Fox, Kieran, Cahn, B.
openaire   +4 more sources

Deep Learning for Alzheimer’s Disease Prediction: A Comprehensive Review

open access: yesDiagnostics
Alzheimer’s disease (AD) is a neurological disorder that significantly impairs cognitive function, leading to memory loss and eventually death. AD progresses through three stages: early stage, mild cognitive impairment (MCI) (middle stage), and dementia.
Isra Malik   +3 more
doaj   +1 more source

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