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921 results

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FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs AM, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. Watts LM, et al. Among authors: vogt j. Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. eCollection 2024. Brain Commun. 2024. PMID: 39386087 Free PMC article. No abstract available.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: vogt j. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free PMC article.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: vogt j. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
Unravelling Secondary Brain Injury: Insights from a Human-Sized Porcine Model of Acute Subdural Haematoma.
Kapapa T, Wernheimer V, Hoffmann A, Merz T, Zink F, Wolfschmitt EM, McCook O, Vogt J, Wepler M, Messerer DAC, Hartmann C, Scheuerle A, Mathieu R, Mayer S, Gröger M, Denoix N, Clazia E, Radermacher P, Röhrer S, Datzmann T. Kapapa T, et al. Among authors: vogt j. Cells. 2024 Dec 27;14(1):17. doi: 10.3390/cells14010017. Cells. 2024. PMID: 39791718 Free PMC article.
AI as an intervention: improving clinical outcomes relies on a causal approach to AI development and validation.
Joshi S, Urteaga I, van Amsterdam WAC, Hripcsak G, Elias P, Recht B, Elhadad N, Fackler J, Sendak MP, Wiens J, Deshpande K, Wald Y, Fiterau M, Lipton Z, Malinsky D, Nayan M, Namkoong H, Park S, Vogt JE, Ranganath R. Joshi S, et al. Among authors: vogt je. J Am Med Inform Assoc. 2025 Jan 7:ocae301. doi: 10.1093/jamia/ocae301. Online ahead of print. J Am Med Inform Assoc. 2025. PMID: 39775871
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream.
Mozun R, Belle FN, Agostini A, Baumgartner MR, Fellay J, Forrest CB, Froese DS, Giannoni E, Goetze S, Hofmann K, Latzin P, Lauener R, Martin Necker A, Ormond K, Pachlopnik Schmid J, Pedrioli PGA, Posfay-Barbe KM, Rauch A, M Schulzke S, Stocker M, Spycher BD, Vayena E, Welzel T, Zamboni N, Vogt JE, Schlapbach LJ, Bielicki JA, Kuehni CE; SwissPedHealth consortium. Mozun R, et al. Among authors: vogt je. BMJ Open. 2024 Dec 26;14(12):e091884. doi: 10.1136/bmjopen-2024-091884. BMJ Open. 2024. PMID: 39725440 Free PMC article.
921 results