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Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 5, pp. 686 - 696
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 499 - 507
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine... 
CELLS | OVEREXPRESSION | LOCALIZATION | CLONING | MEMBRANE | GENETICS & HEREDITY | TRAFFICKING | GTPASE-ACTIVATING PROTEIN | NONCATALYTIC SUBUNIT | LIPID DROPLETS | SUBFAMILY | Abnormalities, Multiple - metabolism | Haplotypes | Sequence Deletion | Microcephaly - genetics | Humans | Molecular Sequence Data | Male | rab GTP-Binding Proteins - genetics | Mutation, Missense | Intellectual Disability - genetics | Intellectual Disability - metabolism | Founder Effect | DNA Mutational Analysis | Hypogonadism - metabolism | Optic Atrophy - metabolism | Base Sequence | Female | Abnormalities, Multiple - genetics | Optic Atrophy - genetics | rab GTP-Binding Proteins - metabolism | Amino Acid Sequence | Microcephaly - metabolism | Mutant Proteins - genetics | Models, Molecular | Mutant Proteins - metabolism | Cataract - metabolism | Hypogonadism - genetics | Sequence Homology, Amino Acid | rab3 GTP-Binding Proteins - genetics | Cornea - metabolism | Phenotype | Cataract - congenital | Pedigree | Protein Binding | Cataract - genetics | rab GTP-Binding Proteins - chemistry | Consanguinity | Cornea - abnormalities | Mutation | Codon, Terminator | Amino Acid Substitution | Chromosome mapping | Usage | Gene mutations | Micro syndrome | Endocrine gland diseases | Causes of | Genetic aspects | Health aspects | Proteins | Neurotransmitters | Pathogenesis | Neurodegeneration | Genes | Hormones | Neurological disorders | Index Medicus | Report
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 24, pp. 5365 - 5382
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause late-onset, autosomal dominant familial Parkinsons disease (PD) and variation at the LRRK2 locus... 
MICROTUBULE STABILITY | DOMAIN | AUTOSOMAL-DOMINANT PARKINSONISM | GENE | REPEAT KINASE 2 | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | GENETICS & HEREDITY | DOPAMINERGIC-NEURONS | ALPHA-SYNUCLEIN | GTP-BINDING | Phosphorylation | Proteome - genetics | Dopaminergic Neurons - pathology | Humans | Drosophila melanogaster - genetics | Drosophila Proteins - biosynthesis | Protein Interaction Maps | Brain - metabolism | Drosophila melanogaster - metabolism | Syntaxin 1 - genetics | Dopaminergic Neurons - metabolism | Phosphoric Monoester Hydrolases - biosynthesis | Nerve Tissue Proteins - biosynthesis | Parkinson Disease - metabolism | Syntaxin 1 - biosynthesis | Synaptic Vesicles - genetics | Disease Models, Animal | Parkinson Disease - pathology | Phosphoric Monoester Hydrolases - genetics | Synaptotagmin I - biosynthesis | Animals, Genetically Modified | Gene Expression Regulation | Parkinson Disease - genetics | Synaptotagmin I - genetics | Nerve Tissue Proteins - genetics | rab3 GTP-Binding Proteins - genetics | Animals | rab3 GTP-Binding Proteins - biosynthesis | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - biosynthesis | Brain - pathology | Drosophila Proteins - genetics | Mutation | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 12/2013, Volume 5, Issue 6, pp. 1536 - 1551
Journal Article