Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

The congenital muscular dystrophies are a heterogeneous group of inherited disorders. The
clinical features range from severe and often early fatal disorders to relatively mild …

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder
characterized by complex eye and brain abnormalities with congenital muscular dystrophy …

The hypoglycosylation of o-dystroglycan is a new disease mechanism recently identified in
four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle …

Background: Genetic diseases that affect the biosynthesis of protein O-glycans are a rapidly
growing group of disorders. Because this group of disorders does not have a collective …

Cobblestone lissencephaly represents a peculiar brain malformation with characteristic
radiological anomalies, defined as cortical dysplasia combined with dysmyelination …

Objective To assess the range and severity of brain involvement, as assessed by magnetic
resonance imaging, in 27 patients with mutations in POMT1 (4), POMT2 (9), POMGnT1 (7) …

Abstract Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital
muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide …

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous
neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is …