Nikolaos Venizelos

Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation.

Martin Citron, Carmen Vigo‐Pelfrey, David B. Teplow et al. · Proceedings of the National Academy of Sciences · 1994 · 366 citations · Full text

Pathology, Amyloid Beta-protein, Alzheimer's Disease +18

Probing the lithium-response pathway in hiPSCs implicates the phosphoregulatory set-point for a cytoskeletal modulator in bipolar pathogenesis

Brian T. D. Tobe, Andrew Crain, Alicia M. Winquist et al. · Proceedings of the National Academy of Sciences · 2017 · 151 citations · Full text

Increased β‐amyloid release and levels of amyloid precursor protein (APP) in fibroblast cell lines from family members with the Swedish Alzheimer's disease APP670/671 mutation

Janet Johnston, Richard F. Cowburn, Svante Norgren et al. · FEBS Letters · 1994 · 146 citations

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

Tiina Tyni, Aarno Palotie, Lasse Viinikka et al. · The Journal of Pediatrics · 1997 · 132 citations

Mendelian Disorder, Biochemistry, Genetic Disorder +9

<i>N</i>‐acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy

Lars Hagenfeldt, I Bollgren, Nikolaos Venizelos · Journal of Inherited Metabolic Disease · 1986 · 121 citations