. . . . . . . . . . . . "[first description of neuropathologic findings in early onset familial Alzheimer disease (EOFAD) due to N135S PSEN1 mutation; clinical phenotype was remarkable for spastic dysarthria, limb spasticity & seizures, in addition to more typical features of EOFAD ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:43:34+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .