Literature DB >> 34599737

Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.

Masaki Ikeda1,2,3, Koichi Okamoto4, Keiji Suzuki5, Masakuni Amari4, Eriko Takai6, Masamitsu Takatama7, Hideaki Yokoo8, Shun Ishibashi9, Yoshio Ikeda6.   

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Year:  2021        PMID: 34599737     DOI: 10.1007/s10048-021-00672-3

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


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  2 in total

1.  Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.

Authors:  Eric M Reiman; Joseph F Arboleda-Velasquez; Yakeel T Quiroz; Matthew J Huentelman; Thomas G Beach; Richard J Caselli; Yinghua Chen; Yi Su; Amanda J Myers; John Hardy; Jean Paul Vonsattel; Steven G Younkin; David A Bennett; Philip L De Jager; Eric B Larson; Paul K Crane; C Dirk Keene; M Ilyas Kamboh; Julia K Kofler; Linda Duque; John R Gilbert; Harry E Gwirtsman; Joseph D Buxbaum; Dennis W Dickson; Matthew P Frosch; Bernardino F Ghetti; Kathryn L Lunetta; Li-San Wang; Bradley T Hyman; Walter A Kukull; Tatiana Foroud; Jonathan L Haines; Richard P Mayeux; Margaret A Pericak-Vance; Julie A Schneider; John Q Trojanowski; Lindsay A Farrer; Gerard D Schellenberg; Gary W Beecham; Thomas J Montine; Gyungah R Jun
Journal:  Nat Commun       Date:  2020-02-03       Impact factor: 17.694

2.  Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Authors:  M T Oetjens; M A Kelly; A C Sturm; C L Martin; D H Ledbetter
Journal:  Nat Commun       Date:  2019-10-25       Impact factor: 14.919

  2 in total

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