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American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1833 - 1852
Journal Article
Journal Article
Nature Medicine, ISSN 1078-8956, 10/2009, Volume 15, Issue 10, pp. 1202 - 1207
Lissencephaly is a devastating neurological disorder caused by defective neuronal migration. LIS1 (official symbol PAFAH1B1, for platelet-activating factor... 
MEDICINE, RESEARCH & EXPERIMENTAL | EARLY EMBRYONIC LETHALITY | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | CLEAVAGE | DIVISION | CELL BIOLOGY | DYNAMICS | FOCAL ADHESION KINASE | GENE-TRANSFER | CYCLIN-DEPENDENT KINASE-5 | NEURONAL MIGRATION DEFECTS | SUBUNIT | Leucine - pharmacology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Neurons - cytology | Calpain - genetics | Cell Movement - genetics | Cell Movement - physiology | Cerebral Cortex - metabolism | Embryo, Mammalian - metabolism | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Gene Expression Regulation, Developmental | Lissencephaly | Neurons - physiology | Female | Neurons - metabolism | Leucine - analogs & derivatives | Disease Models, Animal | Fibroblasts - metabolism | Dyneins - metabolism | Cells, Cultured | Mice, Knockout | Pregnancy | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Leupeptins - pharmacology | Phenotype | Animals | Cysteine Proteinase Inhibitors - pharmacology | Mice | Dyneins - genetics | Models, Neurological | Calpain - antagonists & inhibitors | Care and treatment | Usage | Control | Encephalopathy | Physiological aspects | Calpain | Genetic aspects | Models | Research | Gene expression | Genotype & phenotype | Neurons | Rodents | Neurological disorders | Cell adhesion & migration | Apoptosis | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 267 - 275
Purpose: To confirm the pathogenic role of a novel mutation in PNPLA6 and detail the phenotype of a patient presenting with choroideremia-like chorioretinal... 
OCT | choroidal dystrophy | PNPLA6 | ataxia | choroideremia | Boucher-Neuhäuser | PROTEIN | DEGENERATION | FAMILY | SPINOCEREBELLAR ATAXIA | NEUROPATHY TARGET ESTERASE | CEREBELLAR-ATAXIA | GENETICS & HEREDITY | Boucher-Neuhauser | CHORIORETINAL DYSTROPHY | OPHTHALMOLOGY | HYPOGONADOTROPIC HYPOGONADISM | RETINITIS-PIGMENTOSA | NTE
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 4, pp. 399 - 406
Journal Article