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Year Number of Results
2010 3
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2014 1
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2019 1
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Page 1
A disease concept model for STXBP1-related disorders.
Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, Cosico M, Steinberg J, Goss J, Pfalzer AC, Horning KJ, Weitzel N, Corey S, Conway L, Rigby CS, Bichell TJ, Helbig I. Sullivan KR, et al. Among authors: bichell tj. Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27. Epilepsia Open. 2023. PMID: 36625631 Free PMC article.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis E. Tjeertes J, et al. Among authors: bichell tj. J Neurodev Disord. 2023 Jul 26;15(1):22. doi: 10.1186/s11689-023-09494-w. J Neurodev Disord. 2023. PMID: 37495977 Free PMC article.
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.
Willgoss T, Cassater D, Connor S, Krishnan ML, Miller MT, Dias-Barbosa C, Phillips D, McCormack J, Bird LM, Burdine RD, Claridge S, Bichell TJ. Willgoss T, et al. Among authors: bichell tj. Child Psychiatry Hum Dev. 2021 Aug;52(4):654-668. doi: 10.1007/s10578-020-01051-z. Child Psychiatry Hum Dev. 2021. PMID: 32880036 Free PMC article.
Treatment with THI, an inhibitor of sphingosine-1-phosphate lyase, modulates glycosphingolipid metabolism and results therapeutically effective in experimental models of Huntington's disease.
Pepe G, Capocci L, Marracino F, Realini N, Lenzi P, Martinello K, Bovier TF, Bichell TJ, Scarselli P, Di Cicco C, Bowman AB, Digilio FA, Fucile S, Fornai F, Armirotti A, Parlato R, Di Pardo A, Maglione V. Pepe G, et al. Among authors: bichell tj. Mol Ther. 2023 Jan 4;31(1):282-299. doi: 10.1016/j.ymthe.2022.09.004. Epub 2022 Sep 16. Mol Ther. 2023. PMID: 36116006 Free PMC article.
Angelman syndrome: Mutations influence features in early childhood.
Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Tan WH, et al. Among authors: bichell tj. Am J Med Genet A. 2011 Jan;155A(1):81-90. doi: 10.1002/ajmg.a.33775. Am J Med Genet A. 2011. PMID: 21204213 Free PMC article.
16 results