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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.
A draft conceptual model of SLC6A1 neurodevelopmental disorder.
Goodspeed K, Mosca LR, Weitzel NC, Horning K, Simon EW, Pfalzer AC, Xia M, Langer K, Freed A, Bone M, Picone M, Bichell TJV. Goodspeed K, et al. Among authors: bichell tjv. Front Neurosci. 2023 Jan 19;16:1026065. doi: 10.3389/fnins.2022.1026065. eCollection 2022. Front Neurosci. 2023. PMID: 36741059 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.
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.
Huntington's disease genotype suppresses global manganese-responsive processes in pre-manifest and manifest YAC128 mice.
Pfalzer AC, Wilcox JM, Codreanu SG, Totten M, Bichell TJV, Halbesma T, Umashanker P, Yang KL, Parmalee NL, Sherrod SD, Erikson KM, Harrison FE, McLean JA, Aschner M, Bowman AB. Pfalzer AC, et al. Among authors: bichell tjv. Metallomics. 2020 Jul 22;12(7):1118-1130. doi: 10.1039/d0mt00081g. Metallomics. 2020. PMID: 32421118 Free PMC article.
Reduced bioavailable manganese causes striatal urea cycle pathology in Huntington's disease mouse model.
Bichell TJV, Wegrzynowicz M, Tipps KG, Bradley EM, Uhouse MA, Bryan M, Horning K, Fisher N, Dudek K, Halbesma T, Umashanker P, Stubbs AD, Holt HK, Kwakye GF, Tidball AM, Colbran RJ, Aschner M, Neely MD, Di Pardo A, Maglione V, Osmand A, Bowman AB. Bichell TJV, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1596-1604. doi: 10.1016/j.bbadis.2017.02.013. Epub 2017 Feb 16. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28213125 Free PMC article.
23 results