Search Results - "Maher, Bridget H."
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The NRP1 migraine risk variant shows evidence of association with menstrual migraine
Published in Journal of headache and pain (18-04-2018)“…Background In 2016, a large meta-analysis brought the number of susceptibility loci for migraine to 38. While sub-type analysis for migraine without aura (MO)…”
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An X chromosome association scan of the Norfolk Island genetic isolate provides evidence for a novel migraine susceptibility locus at Xq12
Published in PloS one (29-05-2012)“…Migraine is a common and debilitating neurovascular disorder with a complex envirogenomic aetiology. Numerous studies have demonstrated a preponderance of…”
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Identification of molecular genetic factors that influence migraine
Published in Molecular genetics and genomics : MGG (01-06-2011)“…Migraine is a common neurological disorder with a strong genetic basis. However, the complex nature of the disorder has meant that few genes or susceptibility…”
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Tiered analysis of whole-exome sequencing for epilepsy diagnosis
Published in Molecular genetics and genomics : MGG (01-05-2020)“…It is thought that despite highly variable phenotypic expression, 70—80% of all epileptic cases are caused by one or more genetic mutations. Next generation…”
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Investigation of Brain-Derived Neurotrophic Factor (BDNF) Gene Variants in Migraine
Published in Headache (01-07-2014)“…Objective A number of observations have suggested that brain‐derived neurotrophic factor (BDNF) plays a role in migraine pathophysiology. This study…”
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Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree
Published in Cephalalgia (01-10-2013)“…Oestrogen receptor 1 ( ESR1) is located in region 6q25.1 and encodes a ligand-activated transcription factor composed of several domains important for hormone…”
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Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case-Control Cohort
Published in Headache (01-09-2013)“…Background The excitatory neurotransmitter glutamate has been implicated in both the hyperexcitability required for cortical spreading depression as well as…”
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Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene
Published in Human molecular genetics (15-09-2013)“…Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More…”
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Genetic Variation in Cytokine-Related Genes and Migraine Susceptibility
Published in Twin research and human genetics (01-12-2013)“…Migraine is classified by the World Health Organization (WHO) as being one of the top 20 most debilitating diseases. According to the neurovascular hypothesis,…”
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Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine
Published in Cephalalgia reports (01-01-2019)“…Objective: Hemiplegic migraine in both familial (FHM) and sporadic (SHM) forms is a rare subtype of migraine with aura that can be traced to mutations in the…”
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Association of a GRIA3 Gene Polymorphism With Migraine in an A ustralian Case‐Control Cohort
Published in Headache (01-09-2013)“…Background The excitatory neurotransmitter glutamate has been implicated in both the hyperexcitability required for cortical spreading depression as well as…”
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