Publications by authors named "Joy Norris"

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Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, Joy W Norris, Richard Steet

Elife· October 2022

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A Thompson, Joy W Norris

Nat Commun· July 2020

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The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
Lise Larcher, Joy W Norris, Elodie Lejeune, Julien Buratti, Cyril Mignot

Eur J Med Genet· April 2020

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Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells.
Jarrod W Barnes, Megan Aarnio-Peterson, Joy Norris, Mark Haskins, Heather Flanagan-Steet

Biomolecules· April 2020

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ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Takuo Hirose, Alfredo Cabrera-Socorro, David Chitayat, Thomas Lemonnier, Olivier Féraud, Joy W Norris

J Clin Invest· April 2019

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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.
Catherine J Spellicy, Joy Norris, Renee Bend, Caleb Bupp, Paul Mester

Eur J Hum Genet· March 2018

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Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Yunhui Peng, Joy Norris, Charles Schwartz, Emil Alexov

Int J Mol Sci· January 2016

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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Jessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, William P Bone, Valerie Maduro, Joy Norris

Orphanet J Rare Dis· March 2015

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A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang

Hum Mol Genet· September 2013

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Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
Angela Peron, Luigina Spaccini, Joy Norris, Stefania M Bova, Angelo Selicorni

Am J Med Genet A· September 2013

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In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.
Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov

PLoS One· September 2011

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Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.
John Sowell, Joy Norris, Kelly Jones, Charles Schwartz, Tim Wood

Clin Chim Acta· March 2011

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
James Y Garbern, Manuela Neumann, John Q Trojanowski, Virginia M-Y Lee, Gerald Feldman, Joy W Norris

Brain· May 2010

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