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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2012, Volume 109, Issue 36, pp. 14514 - 14519
Journal Article
Neuron, ISSN 0896-6273, 12/2018, Volume 100, Issue 6, pp. 1354 - 1368.e5
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that mutations in cause mega-corpus-callosum syndrome... 
cerebellar hypoplasia | corpus callosum | microtubules | microdeletion | MAST1 | PROTEIN | CEREBRAL ORGANOIDS | POLYMICROGYRIA | MOUSE | AGENESIS | AXON GUIDANCE | FRAMEWORK | GENERATION | EXPRESSION | NEUROSCIENCES | GENOME | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Humans | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Developmental Disabilities - genetics | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Agenesis of Corpus Callosum - genetics | Female | Microtubule-Associated Proteins - deficiency | Nervous System Malformations - genetics | Child | Disease Models, Animal | Animals, Newborn | PAX6 Transcription Factor - metabolism | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Cells, Cultured | Malformations of Cortical Development - genetics | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Malformations of Cortical Development - complications | Mice, Knockout | Agenesis of Corpus Callosum - complications | Nerve Tissue Proteins - metabolism | Animals | Nervous System Malformations - complications | Brain - pathology | Malformations of Cortical Development - diagnostic imaging | Mice | Developmental Disabilities - complications | TOR protein | Hypoplasia | Cerebellum | Phenotypes | Intellectual disabilities | Cortex | Cognitive ability | Amino acids | Genomes | Microcephaly | Neurodevelopmental disorders | Kinases | Patients | Corpus callosum | Cell adhesion & migration | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Convulsions & seizures | Microencephaly | Clonal deletion | Mutation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2016, Volume 53, Issue 12, pp. 850 - 858
Journal Article
Journal Article
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2009, Volume 19, Issue 4, pp. 255 - 260
Journal Article