The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Movement disorders can be primarily divided into hypokinetic and hyperkinetic. Most of the
hypokinetic syndromes are associated with the neurodegenerative disorder Parkinson's …

Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …

The cellular microenvironment, characterized by an extracellular matrix (ECM), played an
essential role in the transition from unicellularity to multicellularity in animals (metazoans) …

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …

Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Collagen VI is a major extracellular matrix protein exerting a number of functions in different
tissues, spanning from biomechanical to regulatory signals in the cell survival processes …