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The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 685 - 688
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial... 
NEURONAL MIGRATION | DYSTROGLYCANOPATHIES | POPULATION | GENES | GENETICS & HEREDITY | LAMINATION | CORTICAL DEVELOPMENT | RADIAL GLIA | DYSTROPHIES | EXPRESSION | DEFICIENCY | Neurons - pathology | Sequence Deletion | Neuroglia - pathology | Humans | Cerebral Cortex - pathology | Male | Walker-Warburg Syndrome - genetics | Brain - abnormalities | Muscular Dystrophies - genetics | Basement Membrane - pathology | Encephalocele - metabolism | Cerebral Cortex - metabolism | Brain - metabolism | Nervous System Malformations - metabolism | Walker-Warburg Syndrome - metabolism | Female | Neurons - metabolism | Nervous System Malformations - genetics | Encephalocele - genetics | Walker-Warburg Syndrome - pathology | Genetic Predisposition to Disease | Muscular Dystrophies - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Muscular Dystrophies - pathology | Basement Membrane - metabolism | Cerebellum - pathology | Laminin - genetics | Homozygote | Encephalocele - pathology | Brain - pathology | Neuroglia - metabolism | Brain | Gene mutations | Neurons | Neuroglia | Abnormalities | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Neurosciences | Genetic disorders | Laminin | Medical genetics | Genetic research | Eye diseases | Mutation | Muscular dystrophy | Cells | Brain diseases | Index Medicus | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 541 - 552
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 528 - 534
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2015, Volume 23, Issue 5, pp. 621 - 627
Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase,... 
BODY-WEIGHT | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROGENITOR POOL | MECKEL-SYNDROME | GENETICS & HEREDITY | CEREBELLAR DEVELOPMENT | CILIOGENESIS | MUTATIONS | INTRAFLAGELLAR TRANSPORT | CYSTIC KIDNEY | PRIMARY CILIA | Immunohistochemistry | Retinal Diseases - genetics | Humans | Molecular Sequence Data | Eye Diseases, Hereditary - diagnosis | Infant | Male | Obesity - genetics | Obesity - diagnosis | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Disease Models, Animal | Genetic Linkage | Amino Acid Sequence | Retinal Diseases - diagnosis | Cerebellar Diseases - diagnosis | Computational Biology | Models, Molecular | Zebrafish | Sequence Analysis, DNA | Eye Diseases, Hereditary - genetics | Homozygote | Magnetic Resonance Imaging | ADP-Ribosylation Factors - chemistry | Phenotype | Sequence Alignment | Animals | Cerebellar Diseases - genetics | Pedigree | Brain - pathology | Protein Conformation | Consanguinity | Mice | Mutation | Cerebellum | Brain | Neonates | Retinopathy | Congenital defects | Genes | Liver | Homeostasis | Retina | Hypothalamus | Neurodevelopmental disorders | Signal transduction | Polydactyly | Genetics | Ataxia | Localization | Cilia | Hypoplasia | Obesity | Phenotypes | Neurons | Embryo fibroblasts | Embryos | Cysts | Fibrosis | Guanosinetriphosphatase | Index Medicus | Life Sciences | Molecular biology | Biochemistry, Molecular Biology | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 15 - 27
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 666 - 675
Journal Article
eLife, ISSN 2050-084X, 10/2018, Volume 7
Proper brain development relies highly on protein N-glycosylation to sustain neuronal migration, axon guidance and synaptic physiology. Impairing the... 
mouse | cell biology | proteomics | cell adhesion | neuronal migration | neuroscience | human | N-glycosylation | cerebellum | congenital disorders of glycosylation | IMMUNOGLOBULIN SUPERFAMILY | GROWTH CONES | UNFOLDED PROTEIN RESPONSE | NEURITE OUTGROWTH | L1 KNOCKOUT MICE | LINKED GLYCOSYLATION | MOUSE MODEL | BIOLOGY | CONGENITAL DISORDER | MOLECULE L1 | MASS-SPECTROMETRY | Neurons - cytology | Motor Activity | Cerebellum - embryology | Immunoglobulins - metabolism | Membrane Proteins - deficiency | Cytoplasmic Granules - metabolism | Gene Deletion | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - metabolism | Cell Differentiation | Cell Membrane - metabolism | Membrane Proteins - metabolism | Neurons - metabolism | Induced Pluripotent Stem Cells - metabolism | Reproducibility of Results | Purkinje Cells - metabolism | Cerebellum - metabolism | Glycosylation | Mutation - genetics | Unfolded Protein Response | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Cell Adhesion | Cell Adhesion Molecules - metabolism | Mice, Knockout | Polysaccharides - metabolism | Animals | Proteomics | Neural Pathways - metabolism | Axon Guidance | Physiological aspects | Brain | Glycoproteins | Neurons | Cerebellum | Leukocyte migration | Pathogenesis | Homeostasis | Lipids | Experiments | Defects | Proteins | Polysaccharides | Clonal deletion | Epoxy resins | Cell adhesion | Ataxia | Enzymes | Axonogenesis | N-glycans | Metabolism | Molecular modelling | Stem cells | Lectins | Mutation | Axon guidance | Cell migration | Index Medicus | Life Sciences | Neurons and Cognition
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2016, Volume 11, Issue 1, pp. 57 - 57
Journal Article