A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation
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DOI: 10.1002/mds.26922
Abstract: PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension impaired ADL/iADL to a similar… read more here.
Keywords: neurodegeneration brain; mimicking neurodegeneration; ap4s1 mimicking; variant ap4s1 ... See more keywords