PubMed for id: 815321

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Results by year

Year	Number of Results
1905	1
1965	1
1969	1
1972	1
1975	4
1976	6
1977	8
1978	11
1979	16
1980	12
1981	9
1982	17
1983	23
1984	22
1985	28
1986	29
1987	33
1988	46
1989	58
1990	74
1991	76
1992	72
1993	94
1994	91
1995	113
1996	89
1997	115
1998	149
1999	163
2000	181
2001	161
2002	190
2003	186
2004	219
2005	229
2006	227
2007	219
2008	230
2009	249
2010	259
2011	280
2012	262
2013	305
2014	325
2015	290
2016	287
2017	279
2018	295
2019	277
2020	300
2021	301
2022	297
2023	229
2024	1

6,767 results

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Results by year

Page 1

Compendium of measures to control Chlamydophila psittaci (formerly Chlamydia psittaci) infection among humans (psittacosis) and pet birds, 2005.

Smith KA, Bradley KK, Stobierski MG, Tengelsen LA; National Association of State Public Health Veterinarians Psittacosis Compendium Committee. Smith KA, et al. J Am Vet Med Assoc. 2005 Feb 15;226(4):532-9. doi: 10.2460/javma.2005.226.532. J Am Vet Med Assoc. 2005. PMID: 15742693 Free article.

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.

Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN. Stanclift CR, et al. Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. Orphanet J Rare Dis. 2022. PMID: 36528660 Free PMC article.

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency.

Zhu L, Tan B, Dwight SS, Beahm B, Wilsey M, Crawford BE, Schweighardt B, Cook JW, Wechsler T, Mueller WF. Zhu L, et al. Mol Ther Methods Clin Dev. 2022 Oct 3;27:259-271. doi: 10.1016/j.omtm.2022.09.015. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36320418 Free PMC article.

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

Nolan DK, Pastore MT, McBride KL. Nolan DK, et al. Eur J Med Genet. 2022 Aug;65(8):104558. doi: 10.1016/j.ejmg.2022.104558. Epub 2022 Jun 30. Eur J Med Genet. 2022. PMID: 35779835

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.

Mesika A, Nadav G, Shochat C, Kalfon L, Jackson K, Khalaileh A, Karasik D, Falik-Zaccai TC. Mesika A, et al. Front Cell Dev Biol. 2022 Jun 13;10:902969. doi: 10.3389/fcell.2022.902969. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35769264 Free PMC article.

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.

Hope KA, Berman AR, Peterson RT, Chow CY. Hope KA, et al. PLoS Genet. 2022 Jun 2;18(6):e1010228. doi: 10.1371/journal.pgen.1010228. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35653343 Free PMC article.

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.

Pandey A, Adams JM, Han SY, Jafar-Nejad H. Pandey A, et al. Cells. 2022 Mar 29;11(7):1155. doi: 10.3390/cells11071155. Cells. 2022. PMID: 35406718 Free PMC article. Review.

Delineating the epilepsy phenotype of NGLY1 deficiency.

Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Levy RJ, et al. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11. J Inherit Metab Dis. 2022. PMID: 35243670

Patient-derived gene and protein expression signatures of NGLY1 deficiency.

Rauscher B, Mueller WF, Clauder-Münster S, Jakob P, Islam MS, Sun H, Ghidelli-Disse S, Boesche M, Bantscheff M, Pflaumer H, Collier P, Haase B, Chen S, Hoffman R, Wang G, Benes V, Drewes G, Snyder M, Steinmetz LM. Rauscher B, et al. J Biochem. 2022 Feb 21;171(2):187-199. doi: 10.1093/jb/mvab131. J Biochem. 2022. PMID: 34878535

Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency.

Hirayama H, Suzuki T. Hirayama H, et al. J Biochem. 2022 Feb 21;171(2):169-176. doi: 10.1093/jb/mvab127. J Biochem. 2022. PMID: 34791337 Review.

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