Protocadherins (Pcdhs) are cell adhesion molecules that belong to the cadherin
superfamily, and are subdivided into clustered (cPcdhs) and non-clustered Pcdhs (ncPcdhs) …

The challenges in making animal models of complex human epilepsy phenotypes with
varied aetiology highlights the need to develop alternative disease models that can address …

Protocadherins (PCDHs) are cell adhesion molecules that regulate many essential
neurodevelopmental processes related to neuronal maturation, dendritic arbor formation …

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 …

The vasculature is the paradigm of a compartment generated by parallel cellular barriers
that aims to transport oxygen, nutrients and immune cells in complex organisms. Vascular …

Purpose We aimed to define a novel autosomal recessive neurodevelopmental disorder,
characterize its clinical features, and identify the underlying genetic cause for this condition …

In the past two decades, there has been great progress in identifying the molecular basis
and pathomechanistic details in pseudoxanthoma elasticum (PXE), a heritable multisystem …

Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental
counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses …

Posterior fossa malformations include a wide spectrum of heterogeneous conditions caused
by disruption of molecular pathways involved in cerebellar and brainstem formation …

Individuals carrying biallelic loss‐of‐function mutations in PCDH12 have been reported with
three different conditions: the diencephalic–mesencephalic junction dysplasia syndrome 1 …