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Wright JN, Shaw DWW, Ishak G, Perez FA, Doherty D. Wright JN, et al. Among authors: shaw dww. AJNR Am J Neuroradiol. 2020 Aug;41(8):E61. doi: 10.3174/ajnr.A6673. Epub 2020 Jun 25. AJNR Am J Neuroradiol. 2020. PMID: 32586961 Free PMC article. No abstract available.
Cerebellar Watershed Injury in Children.
Wright JN, Shaw DWW, Ishak G, Doherty D, Perez F. Wright JN, et al. Among authors: shaw dww. AJNR Am J Neuroradiol. 2020 May;41(5):923-928. doi: 10.3174/ajnr.A6532. Epub 2020 Apr 23. AJNR Am J Neuroradiol. 2020. PMID: 32327437 Free PMC article.
Tract-based spatial statistical analysis of diffusion tensor imaging in pediatric patients with mitochondrial disease: widespread reduction in fractional anisotropy of white matter tracts.
Ishak GE, Poliakov AV, Poliachik SL, Saneto RP, Novotny EJ Jr, McDaniel S, Ojemann JG, Shaw DW, Friedman SD. Ishak GE, et al. AJNR Am J Neuroradiol. 2012 Oct;33(9):1726-30. doi: 10.3174/ajnr.A3045. Epub 2012 Apr 12. AJNR Am J Neuroradiol. 2012. PMID: 22499843 Free PMC article.
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: shaw dww. Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. Hum Mol Genet. 2024. PMID: 38268317
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Among authors: shaw dww. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Shelkowitz E, et al. Among authors: shaw dww. Orphanet J Rare Dis. 2023 Mar 13;18(1):54. doi: 10.1186/s13023-023-02646-0. Orphanet J Rare Dis. 2023. PMID: 36915141 Free PMC article. No abstract available.
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SRM, Wang LH, Tawil R, Statland JM, Tapscott SJ. Wong CJ, et al. Among authors: shaw dww. bioRxiv [Preprint]. 2023 Feb 20:2023.02.20.529303. doi: 10.1101/2023.02.20.529303. bioRxiv. 2023. Update in: Hum Mol Genet. 2024 Apr 8;33(8):698-708. doi: 10.1093/hmg/ddae007. PMID: 36865168 Free PMC article. Updated. Preprint.
68 results