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

Year Number of Results
2002 1
2003 4
2005 3
2006 5
2007 4
2008 5
2009 7
2010 4
2011 4
2012 8
2013 4
2014 5
2015 8
2016 6
2017 4
2018 7
2019 12
2020 6
2021 2
2022 1
2023 9
2024 2

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98 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.
Staying on target in gene and cell therapy.
Bricker-Anthony R, Koeberl DD, Lipshutz GS, Perna F. Bricker-Anthony R, et al. Among authors: koeberl dd. Mol Ther. 2024 Sep 4;32(9):2801-2802. doi: 10.1016/j.ymthe.2024.08.010. Epub 2024 Aug 23. Mol Ther. 2024. PMID: 39178850 No abstract available.
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.
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 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. Am J Hum Genet. 2018. PMID: 30193138 Free PMC article. No abstract available.
98 results