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Published in 2020 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2020.1759594
Abstract: Abstract Background Prion diseases are rapidly progressive fatal conditions caused by abnormally shaped proteins. Sporadic Creutzfeldt - Jakob disease (sCJD) is the most common human prion disorder accounting for 85–90 % of cases. Clinical manifestations…
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Keywords:
early symptoms;
sporadic creutzfeldt;
disease;
jakob disease ... See more keywords
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Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200022
Abstract: Objective To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene. Methods The methods included clinical case description, neurophysiologic assessment,…
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Keywords:
movement;
tmem106b;
may early;
early symptoms ... See more keywords