Katrin Hinderhofer

TL;DR: Patients with PAH and BMPR2 mutations present at a younger age with more severe disease, and are at increased risk of death, and death or transplantation, compared with those without BM PR2 mutations.

TL;DR: These analyses represent the largest comprehensive compilation of BMPR2 and associated genetic risk factors for PAH, comprising known and novel variation, and with the inclusion of an allelic series of locus‐specific variation in BMPR1 provide a key resource in data interpretation and development of contemporary therapeutic and diagnostic tools.

TL;DR: The importance of CAMK 2A and CAMK2B and their auto-phosphorylation in human brain function is established and the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway is expanded.

TL;DR: It is concluded that a rapid disease course, severely ataxic gait, hand involvement, and autonomic dysfunction are diagnostic hallmarks of late-onset TTR–FAP.

TL;DR: This study identified in a large prospectively assessed cohort of PAH- patients new BMPR2 mutations, which have not been described before, and confirmed previous findings that mutation carriers are younger at diagnosis with a more severe hemodynamic compromise.