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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 2
1990 6
1991 1
1995 2
1997 1
1999 1
2001 1
2002 2
2003 5
2005 3
2006 8
2007 6
2008 5
2009 8
2010 5
2011 5
2012 9
2013 4
2014 5
2015 8
2016 5
2017 5
2018 7
2019 13
2020 6
2021 2
2022 1
2023 9
2024 1

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122 results

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Page 1
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: koeberl dd. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Gene therapy for glycogen storage diseases.
Koeberl DD, Koch RL, Lim JA, Brooks ED, Arnson BD, Sun B, Kishnani PS. Koeberl DD, et al. J Inherit Metab Dis. 2024 Jan;47(1):93-118. doi: 10.1002/jimd.12654. Epub 2023 Jul 27. J Inherit Metab Dis. 2024. PMID: 37421310 Review.
Gene therapy for glycogen storage diseases.
Kishnani PS, Sun B, Koeberl DD. Kishnani PS, et al. Among authors: koeberl dd. Hum Mol Genet. 2019 Oct 1;28(R1):R31-R41. doi: 10.1093/hmg/ddz133. Hum Mol Genet. 2019. PMID: 31227835 Free PMC article. Review.
Immunomodulatory, liver depot gene therapy for Pompe disease.
Bond JE, Kishnani PS, Koeberl DD. Bond JE, et al. Among authors: koeberl dd. Cell Immunol. 2019 Aug;342:103737. doi: 10.1016/j.cellimm.2017.12.011. Epub 2017 Dec 29. Cell Immunol. 2019. PMID: 29295737 Free PMC article. Review.
Liver depot gene therapy for Pompe disease.
Kishnani PS, Koeberl DD. Kishnani PS, et al. Among authors: koeberl dd. Ann Transl Med. 2019 Jul;7(13):288. doi: 10.21037/atm.2019.05.02. Ann Transl Med. 2019. PMID: 31392200 Free PMC article. Review.
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Smith EC, et al. Among authors: koeberl dd. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18. Mol Ther. 2023. PMID: 36805083 Clinical Trial.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: koeberl dd. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Lekstrom-Himes J, Brooks PJ, Koeberl DD, Brower A, Goldenberg A, Green RC, Morris JA, Orsini JJ, Yu TW, Augustine EF. Lekstrom-Himes J, et al. Among authors: koeberl dd. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):30-43. doi: 10.1002/ajmg.c.32031. Epub 2023 Feb 4. Am J Med Genet C Semin Med Genet. 2023. PMID: 36738469 Free PMC article.
122 results