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  1. Article

    Open Access

    Mutated 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 ...

    Shaun Martin, Stefanie Smolders, Chris Van den Haute, Bavo Heeman… in Acta Neuropathologica (2020)

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  2. No Access

    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...

    Aline Verstraeten, Bart Loeys in Surgical Management of Aortic Pathology (2019)

  3. No Access

    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...

    Aline Verstraeten, Bart Loeys in Surgical Management of Aortic Pathology (2019)