M. Bernal-Quirós

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

J. van der Grond, J. Polke, M. Bernal-Quirós, 2016, Annals of clinical and translational neurology.

BANK1 and BLK Act through Phospholipase C Gamma 2 in B-Cell Signaling

M. Bernal-Quirós, C. Castillejo-López, Ying-Yu Wu, 2013, PloS one.

C9orf72 and intracerebral hemorrhage

D. Werring, H. Jäger, T. Yousry, 2019, Neurobiology of Aging.

The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization

S. Kozyrev, M. Bernal-Quirós, M. Alarcón‐Riquelme, 2011, Genes and Immunity.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Nick C Fox, M. Rossor, C. Mummery, 2018, Molecular Psychiatry.

The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function

M. Bernal-Quirós, C. Castillejo-López, I. Georg, 2016, Genes and Immunity.

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

F. Mora-López, M. Bernal-Quirós, A. Lechuga-Sancho, 2012, European Journal of Pediatrics.