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European Journal of Medical Genetics, ISSN 1769-7212, 10/2019, Volume 62, Issue 10, p. 103726
gene, that is located on 6q24.3, encodes the metabotropic glutamate receptor type 1 (mGluR1), a transmembrane protein highly expressed in cerebellar Purkinje... 
Spinocerebellar ataxia autosomal recessive,13 | Cerebellar ataxia | Metabotropic glutamate receptor type 1 | GRM1 | NERVOUS-SYSTEM | DEFICIT | METABOTROPIC GLUTAMATE RECEPTORS | SYNAPTIC PLASTICITY | LACKING | MGLUR1 | Spinocerebellar ataxia autosomal recessive, 13 | POTENTIATION | LONG-TERM DEPRESSION | GENETICS & HEREDITY
Journal Article
Neurology, ISSN 0028-3878, 2000, Volume 55, Issue 5, pp. 649 - 657
Objective: To compare the clinical and genetic features of the seven-generation family (MN-A) used to define the spinocerebellar ataxia 8 (SCA8) locus.... 
CTG REPEAT | GENE | DNA | EXPANSION | MYOTONIC-DYSTROPHY | DOMINANT SPINOCEREBELLAR | CLINICAL NEUROLOGY | REGION | Chromosomes, Human, Pair 13 - genetics | Magnetic Resonance Imaging | Pedigree | Humans | Middle Aged | Brain - pathology | Adult | Female | Male | Aged | Spinocerebellar Ataxias - pathology | Spinocerebellar Ataxias - genetics
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Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, p. e94475
Background: Increased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of... 
SYSTEMIC-LUPUS-ERYTHEMATOSUS | TREMOR/ATAXIA-SYNDROME | AUTOIMMUNITY LESSONS | GENE | TREMOR ATAXIA SYNDROME | MULTIDISCIPLINARY SCIENCES | PREMATURE OVARIAN FAILURE | EXPANDED ALLELES | DYSFUNCTION | IDENTIFICATION | PRIMARY IMMUNODEFICIENCY | Fragile X Syndrome - genetics | Lymphocytes - metabolism | Inflammation - pathology | Cytokines - metabolism | Fragile X Syndrome - immunology | Humans | Middle Aged | Monocytes - metabolism | Inflammation - immunology | Mutation - genetics | Young Adult | Phenotype | Animals | Spleen - metabolism | Trinucleotide Repeat Expansion - genetics | Adult | Female | Heterozygote | Aged | Fragile X Mental Retardation Protein - genetics | Mice | Cytokines - biosynthesis | Autoimmunity | Care and treatment | Usage | Magnetic resonance imaging | Cytokines | Analysis | Diagnosis | Mental illness | Risk factors | Multiplexing | Flow cytometry | Ionomycin | Disease | Lymphocytes T | Leukocytes | Males | Cell surface | Mental retardation | Blood | Lipopolysaccharides | Interleukin 6 | Cell activation | Fragile X mental retardation protein | Immunology | Lymphocytes | Splenocytes | Peripheral blood | Functional magnetic resonance imaging | Ataxia | Lupus | Immune response | Granulocyte-macrophage colony-stimulating factor | Blood cells | Markers | Cultures | Interleukin 13 | Tumor necrosis factor-α | Gene expression | Interleukin 17 | Carriers | White blood cells | Autism | Cytometry | Brain research | γ-Interferon | Interleukin 10 | Fragile X syndrome | Mutation | Autoimmune diseases | Females | Surface markers | Monocyte chemoattractant protein 1
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2013, Volume 8, Issue 5, p. e64462
Inappropriate surface expression of voltage-gated Ca2+ channels (Ca-V) in pancreatic beta-cells may contribute to the development of type 2 diabetes. First,... 
APOPTOSIS | INT6 | MULTIDISCIPLINARY SCIENCES | INSULIN-SECRETION | DYNAMICS | PANCREATIC BETA-CELLS | CHANNELS | DEATH | CA(V)1.2 | PLASMA-MEMBRANE | DEPENDENT STIMULATION | Cell Line | Intracellular Space - drug effects | Calcium - metabolism | Endocytosis - drug effects | Rats | Molecular Imaging | Eukaryotic Initiation Factor-3 - metabolism | Glucose - pharmacology | Protein Transport - drug effects | Protein Subunits - metabolism | Gene Expression Regulation - drug effects | Insulin - metabolism | Animals | Intracellular Space - metabolism | Insulin-Secreting Cells - cytology | Calcium Channels, L-Type - metabolism | Homeostasis - drug effects | Insulin Secretion | Type 2 diabetes | Homeostasis | Development and progression | Pancreatic beta cells | Genetic translation | Plasma | Clathrin | Immunoprecipitation | Calcium | Immunocytochemistry | Trafficking | Electrophysiology | Cytotoxicity | Stimulation | Biology | Glucose | Confocal | Exocytosis | Experiments | Calcium influx | Proteins | Endocytosis | Ataxia | Physiology | Ion channels | Protein transport | Pancreas | Calcium homeostasis | Medical research | Initiation complex | Fractionation | Translation | Calcium (intracellular) | Diabetes mellitus | Calcium channels (voltage-gated) | Translation initiation | Cell division | Insulin | Internalization | Calcium channels (L-type) | Dynamin | Intracellular | Diabetes | Metabolic disorders | Clinical Medicine | Endokrinologi och diabetes | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Endocrinology and Diabetes
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