Search Results - "Agúndez, José A.G"
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Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process
Published in Current drug metabolism (01-02-2014)“…The Clinical Pharmacogenetics Implementation Consortium (CPIC) publishes genotype-based drug guidelines to help clinicians understand how available genetic…”
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An Update on the Neurochemistry of Essential Tremor
Published in Current medicinal chemistry (01-01-2020)“…The pathophysiology and neurochemical mechanisms of essential tremor (ET) are not fully understood, because only a few post-mortem studies have been reported,…”
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Detection of Genomic Variations in BRCA1 and BRCA2 Genes by Long-Range PCR and Next-Generation Sequencing
Published in The Journal of molecular diagnostics : JMD (01-05-2012)“…Advances in sequencing technologies, such as next-generation sequencing (NGS), represent an opportunity to perform genetic testing in a clinical scenario. In…”
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PharmVar GeneFocus: CYP2D6
Published in Clinical pharmacology and therapeutics (01-01-2020)“…The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the…”
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Association between restless legs syndrome and other movement disorders
Published in Neurology (14-05-2019)“…OBJECTIVEThis review focuses on the possible association between restless legs syndrome (RLS) and movement disorders, including Parkinson disease (PD), other…”
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Developments in pharmacogenetics, pharmacogenomics, and personalized medicine
Published in Pharmacological research (01-02-2024)“…The development of Pharmacogenetics and Pharmacogenomics in Western Europe is highly relevant in the worldwide scenario. Despite the usually low institutional…”
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Sleep Disorders in Patients with Choreic Syndromes
Published in Current neurology and neuroscience reports (01-07-2023)“…Purpose of Review Patients with different types of choreic syndromes, specially those with Huntington’s (HD) and Wilson’s (WD) diseases, report frequent sleep…”
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Current and Future Neuropharmacological Options for the Treatment of Essential Tremor
Published in Current neuropharmacology (01-01-2020)“…Background: Essential Tremor (ET) is likely the most frequent movement disorder. In this review, we have summarized the current pharmacological options for the…”
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Genetic determinants of metamizole metabolism modify the risk of developing anaphylaxis
Published in Pharmacogenetics and genomics (01-09-2015)“…Metamizole is a NSAID that has been banned in several countries because of its toxicity. It is often involved in selective hypersensitivity reactions and most…”
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COMT gene and risk for Parkinson’s disease: a systematic review and meta-analysis
Published in Pharmacogenetics and genomics (01-07-2014)“…BACKGROUND/AIMSSeveral single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing…”
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The potential role of pharmacogenomics and biotransformation in hypersensitivity reactions to paracetamol
Published in Current opinion in allergy and clinical immunology (01-08-2018)“…PURPOSE OF REVIEWThe aim of the present review is to discuss recent advances supporting a role of paracetamol metabolism in hypersensitivity reactions to this…”
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Gender and functional CYP2C and NAT2 polymorphisms determine the metabolic profile of metamizole
Published in Biochemical pharmacology (01-12-2014)“…Metamizole is a pain-killer drug that has been banned in some countries because of its toxicity, but it is still used in many countries due to its effective…”
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Drug and xenobiotic biotransformation in the blood-brain barrier: a neglected issue
Published in Frontiers in cellular neuroscience (17-10-2014)“…Drug biotransformation is a crucial mechanism for facilitating the elimination of chemicals from the organism and for decreasing their pharmacological…”
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SLC1A2 rs3794087 variant and risk for essential tremor: a systematic review and meta-analysis
Published in Pharmacogenetics and genomics (01-11-2015)“…BACKGROUND/OBJECTIVERecently, a genome-wide association study showed a statistically significant association between the rs3794087 single nucleotide…”
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Drug metabolism and hypersensitivity reactions to drugs
Published in Current opinion in allergy and clinical immunology (01-08-2015)“…PURPOSE OF REVIEWThe aim of the present review was to discuss recent advances supporting a role of drug metabolism, and particularly of the generation of…”
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Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population
Published in Medicine (Baltimore) (01-11-2015)“…Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of…”
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LINGO1 and risk for essential tremor: Results of a meta-analysis of rs9652490 and rs11856808
Published in Journal of the neurological sciences (15-06-2012)“…Abstract Background/objectives Recently, a genome-wide association study revealed a significant statistical association between LINGO1 rs9652490 and rs11856808…”
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Gene variants and haplotypes modifying transcription factor binding sites in the human cyclooxygenase 1 and 2 (PTGS1 and PTGS2) genes
Published in Current drug metabolism (01-02-2014)“…Cyclooxygenases (prostaglandin-endoperoxide synthases, (EC 1.14.99.1) 1 and 2 (COX-1 and COX-2)) are key enzymes with a highly functional and pharmacological…”
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Neuronal Nitric Oxide Synthase (nNOS, NOS1) rs693534 and rs7977109 Variants and Risk for Migraine
Published in Headache (01-10-2015)“…Background/Objectives Many biochemical, pharmacological, neuropathological, and experimental data suggest a possible role of nitric oxide in the pathogenesis…”
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No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population
Published in Pharmacogenetics and genomics (01-11-2013)“…BACKGROUND/AIMSA recent genome-wide association study and other replication studies have suggested that the rs3794087 single nucleotide polymorphism in the…”
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