Human Molecular Genetics

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisin Human Molecular Genetics

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Loci influencing blood pressure identified using a cardiovascular gene-centric arrayin Human Molecular Genetics

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The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expressionin Human Molecular Genetics

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ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in micein Human Molecular Genetics

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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubertyin Human Molecular Genetics

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Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathyin Human Molecular Genetics

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A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletionin Human Molecular Genetics

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Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypesin Human Molecular Genetics

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Accumulation of the parkin substrate, FAF1, plays a key role in the dopaminergic neurodegenerationin Human Molecular Genetics

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Subcortical dopaminergic deficits in a DISC1 mutant model: a study in direct reference to human molecular brain imagingin Human Molecular Genetics

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