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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
Autosomal recessive childhood-onset severe retinal dystrophy (arCSRD) designates a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously1. The most severe cases areExpand
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High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Clinical differential diagnosis of early-onset dementia (EOD) includes familial Alzheimer disease (FAD) and hereditary prion disease. In both disease entities, postmortem brain histopathologicalExpand
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Indication of circadian oscillations in the rat pancreas
The central circadian oscillator of the suprachiasmatic nucleus controls diurnal rhythmicity of the body with light as its dominant zeitgeber. Recently, peripheral oscillators have been detected inExpand
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Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in‐frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPAExpand
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Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
Article abstract In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2Expand
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Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
Urokinase-type plasminogen activator (uPA) converts plasminogen to plasmin. Plasmin is involved in processing of amyloid precursor protein and degrades secreted and aggregated amyloid-β, a hallmarkExpand
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Molecular genetic alterations on chromosomes 11 and 22 in ependymomas
Ependymomas arise from the ependymal cells at different locations throughout the brain and spinal cord. These tumors have a broad age distribution with a range from less than 1 year to more than 80Expand
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Association of a CB1 cannabinoid receptor gene (CNR1) polymorphism with severe alcohol dependence.
Due to the involvement of the endogenous cannabinoid system in brain reward mechanisms a silent polymorphism (1359G/A; Thr453Thr) in the single coding exon of the CB1 human cannabinoid receptor geneExpand
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Lack of an allelic association between polymorphisms of the dopamine D2 receptor gene and alcohol dependence in the German population.
Our study examined recent claims of an association of the TaqI A1 allele and the functional -141C Ins allele of the dopamine D2 receptor (DRD2) gene with alcohol dependence. Genotypes of the TaqI AExpand
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Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis orExpand
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