Organoids are self-organized, three-dimensional structures derived from stem cells that can
mimic the structure and physiology of human organs. Patient-specific induced pluripotent …

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-
repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle …

Endurance exercise training is beneficial for skeletal muscle health, but it is unclear if this
type of exercise can target or correct the molecular mechanisms of facioscapulohumeral …

Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by
mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The …

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies
on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of …

Facioscapulohumeral muscular dystrophy (FSHD) is an exclusively human neuromuscular
disease. In the last decades the cause of FSHD was identified: the loss of epigenetic …

Neuromuscular disorders (NMDs) are a large group of diseases associated with either
alterations of skeletal muscle fibers, motor neurons or neuromuscular junctions. Most of …

Abstract The European Joint Programme on Rare Diseases (EJPRD) funded the workshop"
LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care …

Background. Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder
characterized by progressive weakening of the muscles. While the two types of FSHD …

The molecular diagnosis of type 1 FacioScapuloHumeral Dystrophy (FSHD1) relies on the
detection of a shortened D4Z4 array at the 4q35 locus while until recently, the diagnosis of …