Results 131 to 140 of about 332,373 (294)
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
The association between vitamin D and restless legs syndrome following acute ischemic stroke
Scientific ReportsRestless legs syndrome (RLS) and acute ischemic stroke are prevalent conditions in neurology. Several studies have indicated a relationship between RLS, acute ischemic stroke, and vitamin D levels.
Tianyang An +5 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.Abstract Background Intracerebral hemorrhage (ICH) remains a devastating neurological disorder with limited therapeutic options. Neural stem cell (NSC)‐based therapies have emerged as a potential regenerative approach, yet the molecular mechanisms regulating NSC behavior require further elucidation.
Wei Dai +7 more
wiley +1 more source
Research advances in dysphagia animal models
Animal Models and Experimental Medicine, EarlyView.This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai +5 more
wiley +1 more source
Proteinuria Is an Independent Risk Factor for Ischemic Stroke in Non–Insulin-Dependent Diabetes Mellitus [PDF]
, 1999 Fernando Guerrero‐Romero +1 more
openalex +1 more source
AI in Neurology: Everything, Everywhere, All at Once Part 1: Principles and Practice
Annals of Neurology, EarlyView.Artificial intelligence (AI) is rapidly transforming healthcare, yet it often remains opaque to clinicians, scientists, and patients alike. This review, part 1 of a 3‐part series, provides neurologists and neuroscientists with a foundational understanding of AI's key concepts, terminology, and applications.
Matthew Rizzo, Jeffrey D. Dawson
wiley +1 more source
Annals of Neurology, EarlyView.Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine +10 more
wiley +1 more source
HeliyonBackground: Epidemiological evidence regarding the possible link between serum ferritin (SF) level and ischemic stroke risk among individuals with type 2 diabetes mellitus (T2DM) is sparse.
Youyou Zhang +4 more
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