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Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C. Helman G, et al. Among authors: woidill s. Hum Mutat. 2020 Jun;41(6):1131-1137. doi: 10.1002/humu.24008. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32126152 Free PMC article.
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G, Zerem A, Almad A, Hacker JL, Woidill S, Sase S, LeFevre AN, Ekstein J, Johansson MM, Stutterd CA, Taft RJ, Simons C, Grinspan JB, Pizzino A, Schmidt JL, Harding B, Hirsch Y, Viaene AN, Fattal-Valevski A, Vanderver A. Helman G, et al. Among authors: woidill s. Pediatr Neurol. 2021 Aug;121:11-19. doi: 10.1016/j.pediatrneurol.2021.04.014. Epub 2021 May 14. Pediatr Neurol. 2021. PMID: 34111619 Free PMC article.
Hepatic Involvement in Aicardi-Goutières Syndrome.
Gavazzi F, Cross ZM, Woidill S, McMann JM, Rand EB, Takanohashi A, Ulrick N, Shults J, Vanderver AL, Adang L. Gavazzi F, et al. Among authors: woidill s. Neuropediatrics. 2021 Dec;52(6):441-447. doi: 10.1055/s-0040-1722673. Epub 2021 Jan 14. Neuropediatrics. 2021. PMID: 33445189 Free PMC article.
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome.
Vanderver A, Adang L, Gavazzi F, McDonald K, Helman G, Frank DB, Jaffe N, Yum SW, Collins A, Keller SR, Lebon P, Meritet JF, Rhee J, Takanohashi A, Armangue T, Ulrick N, Sherbini O, Koh J, Peer K, Besnier C, Scher C, Boyle K, Dubbs H, Kramer-Golinkoff J, Pizzino A, Woidill S, Shults J. Vanderver A, et al. Among authors: woidill s. N Engl J Med. 2020 Sep 3;383(10):986-989. doi: 10.1056/NEJMc2001362. N Engl J Med. 2020. PMID: 32877590 Free PMC article. Clinical Trial. No abstract available.
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C. Helman G, et al. Among authors: woidill s. Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400. Hum Mutat. 2022. PMID: 35920398 No abstract available.
Developmental Outcomes of Aicardi Goutières Syndrome.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Adang L, et al. Among authors: woidill s. J Child Neurol. 2020 Jan;35(1):7-16. doi: 10.1177/0883073819870944. Epub 2019 Sep 27. J Child Neurol. 2020. PMID: 31559893 Free PMC article.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Hong X, Kumar AB, Daiker J, Yi F, Sadilek M, De Mattia F, Fumagalli F, Calbi V, Damiano R, Della Bona M, la Marca G, Vanderver AL, Waldman AT, Adang L, Sherbini O, Woidill S, Suhr T, Kurtzberg J, Beltran-Quintero ML, Escolar M, Aiuti A, Finglas A, Olsen A, Gelb MH. Hong X, et al. Among authors: woidill s. Anal Chem. 2020 May 5;92(9):6341-6348. doi: 10.1021/acs.analchem.9b05274. Epub 2020 Apr 16. Anal Chem. 2020. PMID: 31922725 Free PMC article.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. Among authors: woidill s. J Child Neurol. 2024 Mar;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
15 results