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PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. Corriveau ML, et al. Among authors: turner a. Am J Med Genet A. 2023 Jun;191(6):1619-1625. doi: 10.1002/ajmg.a.63177. Epub 2023 Mar 10. Am J Med Genet A. 2023. PMID: 36905087 Review.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW; Undiagnosed Diseases Network; Lee BH, Bacino CA, Chao HT. Handoko M, et al. Among authors: turner a. Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19. Am J Med Genet A. 2019. PMID: 30569621 Review.
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B; Members of the BBD Consortium; Nagamani SCS. Murali CN, et al. Among authors: turner a. Genet Med. 2020 Mar;22(3):581-589. doi: 10.1038/s41436-019-0688-6. Epub 2019 Nov 27. Genet Med. 2020. PMID: 31772349 Free PMC article.
Health-related quality of life in adults with osteogenesis imperfecta.
Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium; Nagamani SCS. Murali CN, et al. Among authors: turner a. Clin Genet. 2021 Jun;99(6):772-779. doi: 10.1111/cge.13939. Epub 2021 Feb 22. Clin Genet. 2021. PMID: 33580568 Free PMC article.
E7-mediated repression of miR-203 promotes LASP1-dependent proliferation in HPV-positive cervical cancer.
Patterson MR, Meijers AS, Ryder EL, Wootton LM, Scarth JA, Evans D, Turner AL, Wasson CW, Darell JE, Theobald DA, Cogan JA, James CD, Wang M, Ladbury JE, Morgan IM, Samson A, Morgan EL, Macdonald A. Patterson MR, et al. Among authors: turner al. Oncogene. 2024 May 24. doi: 10.1038/s41388-024-03067-4. Online ahead of print. Oncogene. 2024. PMID: 38789663
Non-invasive spinal cord electrical stimulation for arm and hand function in chronic tetraplegia: a safety and efficacy trial.
Moritz C, Field-Fote EC, Tefertiller C, van Nes I, Trumbower R, Kalsi-Ryan S, Purcell M, Janssen TWJ, Krassioukov A, Morse LR, Zhao KD, Guest J, Marino RJ, Murray LM, Wecht JM, Rieger M, Pradarelli J, Turner A, D'Amico J, Squair JW, Courtine G. Moritz C, et al. Among authors: turner a. Nat Med. 2024 May;30(5):1276-1283. doi: 10.1038/s41591-024-02940-9. Epub 2024 May 20. Nat Med. 2024. PMID: 38769431 Free PMC article. Clinical Trial.
4,184 results