Results 81 to 90 of about 319,093 (308)

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

An investigation of the progression from Barrett's esophagus to adenocarcinoma [PDF]

open access: yes, 2016
Barrett's esophagus is a metaplasia of the epithelium of the lower esophagus from a normal squamous appearance to a columnar appearance more typically found in the stomach. It is normally caused by prolonged gastric reflux. While Barrett's esophagus is
Palmese, Scott Joseph
core   +1 more source

The journey from genetic predisposition to medication overuse headache to its acquisition as sequela of chronic migraine [PDF]

open access: yes, 2018
Migraine remains one of the biggest clinical case to be solved among the non-communicable diseases, second to low back pain for disability caused as reported by the Global Burden of Disease Study 2016.
Martelletti, Paolo
core   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han   +8 more
wiley   +1 more source

Dietary fat and total energy intake modifies the association of genetic profile risk score on obesity: evidence from 48 170 UK Biobank participants [PDF]

open access: yes, 2017
Background: Obesity is a multifactorial condition influenced by both genetics and lifestyle. The aim of this study was to investigate whether the association between a validated genetic profile risk score for obesity (GPRS-obesity) and body mass index ...
Anderson, Jana   +13 more
core   +1 more source

Genetic predisposition to smoking in relation to 14 cardiovascular diseases

open access: yesEuropean Heart Journal, 2020
Abstract Aims The aim of this study was to use Mendelian randomization (MR) to determine the causality of the association between smoking and 14 different cardiovascular diseases (CVDs). Methods and results Our primary genetic ...
Larsson, Susanna C   +7 more
openaire   +3 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar   +3 more
wiley   +1 more source

Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.

open access: yesPLoS ONE, 2009
Background and aimsMeningococcal disease remains one of the most important infectious causes of death in industrialized countries. The highly diverse clinical presentation and prognosis of Neisseria meningitidis infections are the result of complex host ...
Antonio Salas   +5 more
doaj   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

A Comprehensive Analysis of HLA-A and HLA-DR Allele Frequencies and Haplotype Associations in a Korean Population of 790 Individuals

open access: yesKorean Journal of Clinical Laboratory Science
The human leukocyte antigen (HLA) system, which is part of the major histocompatibility complex (MHC) plays a vital role in immune responses by differentiating between itself and foreign cells and antigens.
Hee-Kyung HAN   +19 more
doaj   +1 more source

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