Human molecular genetics

Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease.

Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.

Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.

Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy.

Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy.

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

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