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Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: goss j. medRxiv [Preprint]. 2023 May 11:2023.05.10.23289776. doi: 10.1101/2023.05.10.23289776. medRxiv. 2023. Update in: Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287 PMID: 37215006 Free PMC article. Updated. Preprint.
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: goss j. 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.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, deCampo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: goss j. medRxiv [Preprint]. 2023 Jun 28:2023.06.26.23291892. doi: 10.1101/2023.06.26.23291892. medRxiv. 2023. Update in: Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886 PMID: 37425705 Free PMC article. Updated. Preprint.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: goss j. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: goss j. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Among authors: goss j. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
Asynchronous Transitions from Hepatoblastoma to Carcinoma in High-Risk Pediatric Tumors.
Yu X, Sarabia S, Urbicain M, Somvanshi S, Patel R, Tran TM, Yeh YP, Chang KS, Lo YT, Epps J, Scorsone KA, Chiu HS, Hollingsworth EF, Perez CR, Najaf Panah MJ, Zorman B, Finegold M, Goss JA, Alaggio R, Roy A, Fisher KE, Heczey A, Woodfield S, Vasudevan S, Patel K, Chen TW, Lopez-Terrada D, Sumazin P. Yu X, et al. Among authors: goss ja. bioRxiv [Preprint]. 2024 Dec 27:2024.12.24.630261. doi: 10.1101/2024.12.24.630261. bioRxiv. 2024. PMID: 39763896 Free PMC article. Preprint.
684 results