Joy Norris - Search Results

Year	Number of Results
2010	1
2011	2
2013	2
2015	1
2016	1
2018	1
2019	2
2020	3
2022	1
2024	0

1

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Vignogna RC, Allocca M, Monticelli M, Norris JW, Steet R, Perlstein EO, Andreotti G, Lang GI. Vignogna RC, et al. Among authors: norris jw. Elife. 2022 Oct 10;11:e79346. doi: 10.7554/eLife.79346. Elife. 2022. PMID: 36214454 Free PMC article.

2

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

Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: norris jw. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.

3

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M. Hirose T, et al. Among authors: norris jw. J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15. J Clin Invest. 2019. PMID: 30985297 Free PMC article.

4

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

Barnes JW, Aarnio-Peterson M, Norris J, Haskins M, Flanagan-Steet H, Steet R. Barnes JW, et al. Among authors: norris j. Biomolecules. 2020 Apr 26;10(5):670. doi: 10.3390/biom10050670. Biomolecules. 2020. PMID: 32357547 Free PMC article.

5

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Spellicy CJ, Norris J, Bend R, Bupp C, Mester P, Reynolds T, Dean J, Peng Y, Alexov E, Schwartz CE, Stevenson RS, J Friez M. Spellicy CJ, et al. Among authors: norris j. Eur J Hum Genet. 2018 Mar;26(3):420-427. doi: 10.1038/s41431-017-0025-y. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358613 Free PMC article.

6

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

Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S. Larcher L, et al. Among authors: norris jw. Eur J Med Genet. 2020 Apr;63(4):103777. doi: 10.1016/j.ejmg.2019.103777. Epub 2019 Sep 30. Eur J Med Genet. 2020. PMID: 31580924

7

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF. Albert JS, et al. Among authors: norris j. Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8. Orphanet J Rare Dis. 2015. PMID: 25888122 Free PMC article.

8

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA. Garbern JY, et al. Among authors: norris jw. Brain. 2010 May;133(Pt 5):1391-402. doi: 10.1093/brain/awq071. Epub 2010 Apr 15. Brain. 2010. PMID: 20395263 Free PMC article.

9

Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.

Sowell J, Norris J, Jones K, Schwartz C, Wood T. Sowell J, et al. Among authors: norris j. Clin Chim Acta. 2011 Mar 18;412(7-8):655-60. doi: 10.1016/j.cca.2010.12.037. Epub 2011 Jan 8. Clin Chim Acta. 2011. PMID: 21219895

10

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Peng Y, Norris J, Schwartz C, Alexov E. Peng Y, et al. Among authors: norris j. Int J Mol Sci. 2016 Jan 8;17(1):77. doi: 10.3390/ijms17010077. Int J Mol Sci. 2016. PMID: 26761001 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

13 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year