Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Abstract Collagen alpha-1 (III) chain, also known as the alpha 1 chain of type III collagen, is
a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are …

Abstract The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary
disorders of connective tissue, with common features including joint hypermobility, soft and …

Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

Abstract The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic
conditions that are characterized by joint hypermobility, skin and vascular fragility and …

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue
disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α …

The extracellular matrix (ECM) is the non-cellular component in the cardiac
microenvironment, and serves essential structural and regulatory roles in establishing and …

Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape.
CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical …

Abstract Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective
tissue disorder characterized by risk of dissection and rupture of the arteries, gastro …

During the development of the cortex, newly generated neurons migrate long-distances in
the expanding tissue to reach their final positions. Pyramidal neurons are produced from …