Familial Alzheimer's disease associated with heterozygous NPC1 mutation.

Diego LopergoloSilvia BianchiGian Nicola GallusSara LocciBarbara PucciValerio LeoniDaniele GaspariniElisa TardelliAndrea ChincariniStelvio SestiniFilippo Maria SantorelliHenrik ZetterbergNicola De StefanoAndrea Mignarri

Published in: Journal of medical genetics (2023)

heterozygosity in patients affected by AD, provides relevant insights into the pathogenetic mechanisms underlying this possible novel association.

Keyphrases

end stage renal disease
ejection fraction
early onset
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported outcomes