Search Results - "Margolies, Katherine A"
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Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations
Published in Acta neuropathologica communications (28-04-2023)“…Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN mutations…”
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Journal Article -
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Progressive cardiac arrhythmias and ECG abnormalities in the Huntington’s disease BACHD mouse model
Published in Human molecular genetics (01-02-2020)“…Abstract Huntington’s disease (HD) is a dominantly inherited neurodegenerative disease. There is accumulating evidence that HD patients have increased…”
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Journal Article