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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Jin, Sheng Chih, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Ibero-American Alzheimer Disease Genetics Group Researchers, and Carlos Cruchaga. 2012. “Pooled-DNA Sequencing Identifies Novel Causative Variants in PSEN1, GRN and MAPT in a Clinical Early-Onset and Familial Alzheimer’s Disease Ibero-American Cohort.”. Alzheimer’s Research & Therapy 4 (4): 34.

Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.

Li, Yedda, Yue Xu, Bruno A Benitez, Murtaza S Nagree, Joshua T Dearborn, Xuntian Jiang, Miguel A Guzman, et al. 2019. “Genetic Ablation of Acid Ceramidase in Krabbe Disease Confirms the Psychosine Hypothesis and Identifies a New Therapeutic Target.”. Proceedings of the National Academy of Sciences of the United States of America 116 (40): 20097-103.