Valosin Containing Protein (VCP) is an AAA+ protein that has a key role in several cellular pathways maintaining homeostasis. In fact, VCP misfunctioning and mutations […]
Objective: To determine the effects of WVE-004 on C9orf72 G4C2 repeat-containing transcripts, DPR proteins, and C9orf72 protein levels. Background: A large G4C2 repeat expansion in […]
Calpainopathy is the most prevalent limb girdle muscular dystrophy (previously LGMD2A) caused by mutations in the CAPN3 gene, the first LGMD gene to be identified. […]
Background: The coronavirus disease 2019 (COVID-19) pandemic and social guidelines have required unprecedented changes in social conventions worldwide; most policies were driven by the need […]
Amina Fouad Al Houssari – Clinical RDN Lebanese International University, Beirut, Lebanon Background: Bone health is a complex issue affected by multiple hormones and minerals. […]
Background: Identifying the underlying pathogenic mechanisms and disease-modifiers capable of altering the course of amyotrophic lateral sclerosis (ALS) is vital for the development of new […]
Background. Alterations in tau protein levels and its phosphorylated form have been described in post-mortem samples of sporadic and familial ALS. Furthermore, it has been […]
Objectives: To determine the validity of traditional TUG and newly developed FSHD-TUG (modified TUG for FSHD, which includes supine-to-sit and sit-to-supine components) over a one-year […]
Limb Girdle Muscular Dystrophy type 2i (LGMD2i) is an autosomal recessive disease caused by mutations in the fukutin-related protein (FKRP) gene. The Majority of FKRP […]