Marta Martins

Cold Urticaria, Immunodeficiency, and Autoimmunity Related to <i>PLCG2</i> Deletions

Michael J. Ombrello, Elaine F. Remmers, Guangping Sun et al. · New England Journal of Medicine · 2012 · 410 citations · Full text

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

Qing Zhou, Geun‐Shik Lee, Jillian Brady et al. · The American Journal of Human Genetics · 2012 · 370 citations · Full text

Encoding Phospholipase Cγ2, Signal Transduction, Disease Mechanism +10

Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph

Lorenza Magno, Christian Lessard, Marta Martins et al. · Alzheimer s Research & Therapy · 2019 · 136 citations · Full text

Structural and Functional Integration of the PLCγ Interaction Domains Critical for Regulatory Mechanisms and Signaling Deregulation

Tom D. Bunney, Diego Esposito, Corine Mas-Droux et al. · Structure · 2012 · 88 citations · Full text

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

João Farela Neves, Rainer Döffinger, Gabriela Barcena-Morales et al. · Frontiers in Immunology · 2018 · 81 citations · Full text