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409 results

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Page 1
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD. Ziółkowska EA, et al. Among authors: dickson pi. Sci Transl Med. 2025 Jan 15;17(781):eadj1445. doi: 10.1126/scitranslmed.adj1445. Epub 2025 Jan 15. Sci Transl Med. 2025. PMID: 39813314
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M, Wegner DJ, Paul AJ, Buchser W, Schmidt R, Sharma J, Sardiello M, Sisco K, Manwaring L, Reynolds M, Fulton R, Fronick C, Shaver A, Huang TY, Carroll A, Roessler K, Halpern AL; Undiagnosed Diseases Network; Dickson PI, Wambach JA. Shinawi M, et al. Among authors: dickson pi. Mol Genet Metab. 2025 Jan;144(1):109004. doi: 10.1016/j.ymgme.2024.109004. Epub 2024 Dec 24. Mol Genet Metab. 2025. PMID: 39742826
BioMedGraphica: An All-in-One Platform for Biomedical Prior Knowledge and Omic Signaling Graph Generation.
Zhang H, Liang S, Xu T, Li W, Huang D, Dong Y, Li G, Miller JP, Goedegebuure SP, Sardiello M, Cooper J, Buchser W, Dickson P, Fields RC, Cruchaga C, Chen Y, Province M, Payne P, Li F. Zhang H, et al. Among authors: dickson p. bioRxiv [Preprint]. 2024 Dec 9:2024.12.05.627020. doi: 10.1101/2024.12.05.627020. bioRxiv. 2024. PMID: 39713411 Free PMC article. Preprint.
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Genetics is Scary.
Dickson PI. Dickson PI. Mo Med. 2024 Jul-Aug;121(4):276. Mo Med. 2024. PMID: 39575072 Free PMC article. No abstract available.
409 results