Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
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- 1 November 2002
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 71 (5), 1033-1043
- https://doi.org/10.1086/342975
Abstract
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This publication has 48 references indexed in Scilit:
- Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophyNature, 2002
- Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophiesNature, 2002
- Deficiency of α-Dystroglycan in Muscle–Eye–Brain DiseaseBiochemical 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 FamilyBiochemical and Biophysical Research Communications, 2001
- Dystrophic Muscle in Mice Chimeric for Expression of α5 IntegrinThe Journal of cell biology, 1998
- Gonadoblastoid Testicular Dysplasia in Walker-Warburg SyndromePediatric and Developmental Pathology, 1998
- Essential role of α6 integrins in cortical and retinal laminationCurrent Biology, 1998
- The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neuronsNature Genetics, 1995
- MARCKS deficiency in mice leads to abnormal brain development and perinatal death.Proceedings of the National Academy of Sciences of the United States of America, 1995
- Structures and functions of the sugar chains of glycoproteinsEuropean Journal of Biochemistry, 1992