Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

This publication has 48 references indexed in Scilit:

• Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
  Nature, 2002
• Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
  Nature, 2002
• Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease
  Biochemical and Biophysical Research Communications, 2002
• Murine and Human SDF2L1 Is an Endoplasmic Reticulum Stress-Inducible Gene and Encodes a New Member of the Pmt/rt Protein Family
  Biochemical and Biophysical Research Communications, 2001
• Dystrophic Muscle in Mice Chimeric for Expression of α5 Integrin
  The Journal of cell biology, 1998
• Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome
  Pediatric and Developmental Pathology, 1998
• Essential role of α6 integrins in cortical and retinal lamination
  Current Biology, 1998
• The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons
  Nature Genetics, 1995
• MARCKS deficiency in mice leads to abnormal brain development and perinatal death.
  Proceedings of the National Academy of Sciences, 1995
• Structures and functions of the sugar chains of glycoproteins
  European Journal of Biochemistry, 1992