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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 7, pp. 2693 - 2698
Mutations in the leucine-rich repeat kinase (LRRK2) gene cause late-onset autosomal dominant Parkinson's disease (PD) with pleiomorphic pathology. Previously,... 
Brain | Eclosion | Phenotypes | Disease models | Neurons | Drosophila | Mortality | Parkinson disease | Genetic mutation | Genotypes | Dopaminergic neuron | Parkinson's disease | KINASE-ACTIVITY | MULTIDISCIPLINARY SCIENCES | MECHANISMS | dopaminergic neuron | NEURODEGENERATIVE DISEASES | DEGENERATION | arkinson's disease | FLY | COMMON LRRK2 MUTATION | TARGETED GENE-EXPRESSION | NEURONS | NEUROPATHOLOGY | MELANOGASTER | Retina - metabolism | Dopamine - genetics | Nerve Degeneration - genetics | Gait Disorders, Neurologic - genetics | Drosophila melanogaster - genetics | Nerve Degeneration - metabolism | Drosophila melanogaster - metabolism | Parkinsonian Disorders - metabolism | Gait Disorders, Neurologic - pathology | Parkinsonian Disorders - genetics | Dopamine - metabolism | Protein-Serine-Threonine Kinases - metabolism | Disease Models, Animal | Animals, Genetically Modified | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Drosophila melanogaster - ultrastructure | Microscopy, Electron | Nerve Degeneration - pathology | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Dopa Decarboxylase - metabolism | Gait Disorders, Neurologic - metabolism | Animals | Parkinsonian Disorders - pathology | Dopa Decarboxylase - genetics | Parkinsonism | Usage | Genetic aspects | Models | Cell culture | Genotype & phenotype | Pathogens | Parkinsons disease | Mutation | Kinases | Biological Sciences
Journal Article
Journal of Cell Science, ISSN 0021-9533, 2017, Volume 130, Issue 21, pp. 3637 - 3649
Congenital disorders of glycosylation (CDG) comprise a family of human multisystemic diseases caused by recessive mutations in genes required for protein... 
GOLPH3 | Glycosylation | Golgi | COG7 | Drosophila | MEIOTIC CYTOKINESIS | NERVOUS-SYSTEM | GLYCANS | OLIGOMERIC GOLGI-COMPLEX | MEMBRANE TRAFFICKING | CELL BIOLOGY | PHOSPHOPROTEIN 3 | CONGENITAL DISORDERS | DISEASE-MODEL | GLYCOSYLTRANSFERASES | NEUROMUSCULAR SYNAPTOGENESIS | Oncogene Proteins - genetics | Neuromuscular Junction - metabolism | Humans | rab GTP-Binding Proteins - genetics | Gait Disorders, Neurologic - genetics | Golgi Apparatus - pathology | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Genetic Complementation Test | Congenital Disorders of Glycosylation - pathology | Drosophila melanogaster - metabolism | Mannose - metabolism | Biological Transport | Gene Expression Regulation, Developmental | Gene Deletion | Larva - growth & development | Gait Disorders, Neurologic - pathology | Larva - genetics | Congenital Disorders of Glycosylation - genetics | Neuromuscular Junction - pathology | Disease Models, Animal | rab GTP-Binding Proteins - metabolism | Larva - metabolism | Vesicular Transport Proteins - genetics | Oncogene Proteins - metabolism | Congenital Disorders of Glycosylation - metabolism | Polysaccharides - metabolism | Gait Disorders, Neurologic - metabolism | Phenotype | Animals | Vesicular Transport Proteins - deficiency | Drosophila Proteins - deficiency | Drosophila melanogaster - growth & development | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Drosophila Proteins - genetics | Congenital diseases | Trafficking | Disorders | Tethering | Cytokinesis | Mutants | Golgi apparatus | Insects | Neurological complications | Neuromuscular junctions | Mutation | Auditory defects
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2231 - 2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual... 
epilepsy | hypertrichosis | SYNGAP1 | strabismus | syndrome | DDD study | 6p21.3 microdeletion | behavioral phenotype | hip dysplasia | intellectual disability | Intellectual disability | Strabismus | Hip dysplasia | Epilepsy | Behavioral phenotype | Hypertrichosis | Syndrome | AUTISM | GENE | GENETICS & HEREDITY | PATIENT | Constipation - genetics | Humans | Child, Preschool | Male | Epilepsies, Myoclonic - pathology | Gait Disorders, Neurologic - genetics | Strabismus - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Hip Dislocation - pathology | ras GTPase-Activating Proteins - genetics | Constipation - diagnosis | DNA Mutational Analysis | Epilepsies, Myoclonic - diagnosis | Strabismus - pathology | Gait Disorders, Neurologic - pathology | Female | Child | Epilepsies, Myoclonic - genetics | Gene Expression | Muscle Hypotonia - genetics | Hip Dislocation - genetics | Intellectual Disability - pathology | Strabismus - diagnosis | Constipation - pathology | Twins, Monozygotic | Gait Disorders, Neurologic - diagnosis | Haploinsufficiency | Muscle Hypotonia - pathology | Phenotype | Intellectual Disability - diagnosis | Adolescent | Heterozygote | Hip Dislocation - diagnosis | Mutation | Sleep disorders | Dysplasia | Sleep | Genetic research | Genetic aspects | Seizures (Medicine) | Twins | Neuroimaging | Phenotypes | Aggressive behavior | Gait | Intellectual disabilities | Copy number | Gene deletion | Neurodevelopmental disorders | Hip | Magnetic resonance imaging | Clonal deletion | Nose | Bone dysplasia | Constipation | Seizures | Guanosinetriphosphatase | New Syndrome
Journal Article
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 08/2014, Volume 34, Issue 32, pp. 10710 - 10728
Journal Article
Biological Psychiatry, ISSN 0006-3223, 2010, Volume 68, Issue 1, pp. 33 - 40
Journal Article
Journal Article