Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

This publication has 17 references indexed in Scilit:

• Human RhoGAP domain‐containing proteins: structure, function and evolutionary relationships
  FEBS Letters, 2002
• Pleckstrin homology domains and the cytoskeleton
  FEBS Letters, 2001
• The cerebellum contributes to higher functions during development: Evidence from a series of children surgically treated for posterior fossa tumours
  Brain, 2000
• Neuropsychological consequences of cerebellar tumour resection in children
  Brain, 2000
• Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
  European Journal of Human Genetics, 1999
• Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
  Nature, 1998
• X‐linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq
  Annals of Neurology, 1996
• Prenatal diagnosis of Dandy‐Walker malformation in a family displaying X‐linked inheritance
  Prenatal Diagnosis, 1993
• An Emerging Concept
  Archives of Neurology, 1991
• Destruction of meningeal cells over the newborn hamster cerebellum with 6-hydroxydopamine prevents foliation and lamination in the rostral cerebellum
  Neuroscience, 1986