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Joy Norris

National Institutes of Health

12

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298

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Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

2020
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

2020 Nature Communications
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The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome

2019 European Journal of Medical Genetics
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Revealing the effects of missense mutations causing snyder-robinson syndrome on the stability and dimerization of spermine synthase

2016 International Journal of Molecular Sciences
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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

2015 Orphanet Journal of Rare Diseases
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A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

2013 Human Molecular Genetics
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In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.

2011 PLOS ONE
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Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry

2011 Clinica Chimica Acta
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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

2010 Brain
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Citations (93)