7 Result(s)
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Article
Open AccessMutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
Parkinson’s disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta ...
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Chapter
Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies
Aortic aneurysm refers to a pathological dilatation of the aorta and predisposes to rupture and dissection. It is an important health problem, accounting for 1–2% of all deaths in the Western population. Thora...
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Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three leaflets: two are named after their orientation relative to the left and right coronary artery, while the third is called the non-coronary cusp. In 0.5–2% of the gen...
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Chapter
Clinical Aspects of Heritable Connective Tissue Disorders
Connective tissue surrounds, supports, and connects a multitude of tissues and organs. It is composed of a cellular component (mostly fibroblasts) and extracellular matrix, with the latter consisting of fibers...
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Chapter
Genetics of Marfan Syndrome and Loeys-Dietz Syndrome
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two clinically related aortic aneurysm conditions. LDS shows significant clinical overlap with MFS as regards its vascular and skeletal features, includ...
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Article
Aetiology and management of hereditary aortopathy
Aortic aneurysms are a major health problem accounting for 1–2% of all deaths in Western countries
The gene...
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Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three valve leaflets, named after their orientation relative to the left and right coronary artery. In 0.5–2 % of the general population, the aortic valve comprises only t...
