Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0011168 (
dysphagia
)
15,644
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors describe four members of a family with a novel P284S
presenilin 1
mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria,
dysphagia
, and marked involvement of brain white matter. The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene.
...
PMID:Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation. 1640 57
