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Analysis of shared heritability in common disorders of the brain
It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
44 independent single-nucleotide polymorphisms significantly associated with migraine risk were identified that mapped to 38 distinct genomic loci, including 28 loci not previously reported and a locus that to the authors' knowledge is the first to be identified on chromosome X.
Genome-wide meta-analysis identifies new susceptibility loci for migraine
A meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine and 95,425 population-matched controls, identifies 12 loci associated with migraine susceptibility and suggests potential functional candidate genes at four loci.
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
To the knowledge, the data establish rs1835740 as the first genetic risk factor for migraine.
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Genotype–phenotype correlations for these genes have now established that the clinical phenotypes in Micro syndrome and MS represent a phenotypic continuum related to the nature and severity of the mutations present in the disease genes, with more deleterious mutations causing Micro Syndrome and milder mutations causing MS.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Infants with classical disease, as well as young adults manifesting as atypical juvenile-onset parkinsonism-dystonia, thereby expanding the disease spectrum, are reported.
NEK1 mutations in familial amyotrophic lateral sclerosis.
The association between NEK1 variants and familial ALS was assessed using whole exome sequence data of 265 familial ALS index patients and 827 control individuals to assess the variant burden inNEK1.