Linda Bulmer

Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia

Pia Dahlberg, Serena Pozzi, Linda Bulmer, Alessia Golluscio et autres

The present study aimed to characterize the SCN5A variant I1333V, found in five families with a history of suspected catecholaminergic polymorphic ventricular tachycardia (CPVT). SCN5A encodes the pore-forming subunit of the cardiac voltage-gated sodium channel Na V 1.5. Gain of SCN5A function …

se (code pays fourni par la source)

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency

Linda Bulmer, Charlotta E. A. Ljungman, Johan Hallin, Pia Dahlberg et autres

Pathogenic variants in the EMD gene cause X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1), typically presenting with joint contractures and skeletal muscle atrophy, followed by atrial arrhythmias, cardiac conduction defects, and atrial dilatation. Although an association with isolated dilated cardiomyopathy (DCM) has …

se (code pays fourni par la source)

BPS2025 - Selective enhancement of Nav1.5 opening over fast inactivation by loss of a single methyl group in a CPVT-associated variant

Serena Pozzi, Orgena Dano, Alessia Golluscio, Pia Dahlberg et autres

se, us (code pays fourni par la source)

Enhanced NaV1.5 (SCN5A) activation in CPVT-like arrhythmia

Serena Pozzi, Pia Dahlberg, Linda Bulmer, Amaia Jauregi Miguel et autres

se (code pays fourni par la source)

Complement peptide C3a stimulates neural plasticity after experimental brain ischaemia

Anna Stokowska, Alison L. Atkins, Javier Morán, Tulen Pekny et autres

Ischaemic stroke induces endogenous repair processes that include proliferation and differentiation of neural stem cells and extensive rewiring of the remaining neural connections, yet about 50% of stroke survivors live with severe long-term disability. There is an unmet need for drug therapies …

se, us, nz, au (code pays fourni par la source)