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Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200001
Abstract: Objective To describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB. Methods We present 3 generations of a family with PFBC associated with a previously unreported…
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Keywords:
calcifications leukoencephalopathy;
basal ganglia;
familial brain;
brain calcifications ... See more keywords
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Published in 2024 at "Biomolecules"
DOI: 10.3390/biom14121585
Abstract: Background: Brain calcifications, found in various conditions, may be incidental or crucial for diagnosis. They occur in physiological changes, infections, genetic diseases, neurodegenerative conditions, vascular syndromes, metabolic disorders, endocrine disorders, and primary tumors like oligodendroglioma.…
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Keywords:
brain;
brain metastases;
systematic review;
brain calcifications ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24108995
Abstract: Many conditions can present with accumulation of calcium in the brain and manifest with a variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) or secondary to various pathological conditions (e.g., calcium–phosphate…
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Keywords:
aspects brain;
genetic molecular;
brain;
clinical aspects ... See more keywords