Publications:

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: 118G>A

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf

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Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine

Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X

Publication Date: 2018-08-30

Variant appearance in text: PSEN1: D40N

PubMed Link: 30165862

Variant Present in the following documents:

• 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1

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Presenilin-like GxGD membrane proteases have dual roles as proteolytic enzymes and ion channels.

The Journal Of Biological Chemistry

Kuo, Ivana Y IY; Hu, Jian J; Ha, Ya Y; Ehrlich, Barbara E BE

Publication Date: 2015-03-06

Variant appearance in text: PS1: D40N

PubMed Link: 25609250

Variant Present in the following documents:

• Main text

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