Search Results - "Pick's disease"

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  1. 1
    Differential, dominant activation and inhibition of notch signalling and APP cleavage by truncations of PSEN1 in human disease deficits

    Differential, dominant activation and inhibition of notch signalling and APP cleavage by truncations of PSEN1 in human disease deficits by Newman, M., Wilson, L., Verdile, Giuseppe, Lim, A., Khan, I., Moussavi Nik, S., Pursglove, S., Chapman, G., Martins, R., Lardelli, M.

    Published 2014
    “…PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. …”
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  2. 2
    Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.

    Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases. by Heidari, M., Gerami, S., Bassett, B., Graham, Ross, Chua, A., Aryal, R., House, M., Collingwood, J., Bettencourt, C., Houlden, H., Ryten, M., Olynyk, John, Trinder, D., Johnstone, D., Milward, E.

    Published 2016
    “…These analyses implicate, among others, genes linked to various rare central hypomyelinating leukodystrophies and peripheral neuropathies including Pelizaeus-Merzbacher-like disease and Charcot-Marie-Tooth disease as well as genes linked to other rare neurological diseases such as Niemann-Pick disease. The findings may help understand interrelationships of iron and myelin in more common conditions such as hemochromatosis, multiple sclerosis and various psychiatric disorders.…”
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