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Alzheimer disease familial 3, with spastic paraparesis

MedGen UID:
864219
•Concept ID:
C4015782
•
Finding
Synonym: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
 
OMIM®: 104311

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Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
Sutovsky S, Smolek T, Turcani P, Petrovic R, Brandoburova P, Jadhav S, Novak P, Attems J, Zilka N
J Neural Transm (Vienna) 2018 Jun;125(6):965-976. Epub 2018 Feb 5 doi: 10.1007/s00702-018-1850-z. PMID: 29404783

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