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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M. Gustavsson EK, et al. Among authors: montgomery k. Sci Adv. 2024 Jun 28;10(26):eadk1296. doi: 10.1126/sciadv.adk1296. Epub 2024 Jun 26. Sci Adv. 2024. PMID: 38924406 Free PMC article.
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Luo H, Gustavsson EK, Macpherson H, Dominik N, Zhelcheska K, Montgomery K, Anderson C, Yau WY, Efthymiou S, Turner C, DeTure M, Dickson DW, Josephs KA, Revesz T, Lashley T, Halliday G, Rowe DB, McCann E, Blair I, Lees AJ, Tienari PJ, Suomalainen A, Molina-Porcel L, Kovacs GG, Gelpi E, Hardy J, Haltia MJ, Tucci A, Jaunmuktane Z, Ryten M, Houlden H, Chen Z. Luo H, et al. Among authors: montgomery k. Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7. Acta Neuropathol Commun. 2024. PMID: 38167323 Free PMC article. No abstract available.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H; Genomics England Research Consortium; Hardy J, Polke J, Singleton AB, Blauwendraat C, Mathews KD, Tucci A, Fu YH, Houlden H, Ryten M, Ptáček LJ. Chen Z, et al. Among authors: montgomery k. Mov Disord. 2024 Mar;39(3):486-497. doi: 10.1002/mds.29704. Epub 2024 Jan 10. Mov Disord. 2024. PMID: 38197134
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: montgomery k. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
ASO Visual Abstract: Impact of Social Determinants of Health on Melanoma Nodal Surveillance in a Multi-Institutional Cohort.
Montgomery KB, Chandler McLeod M, DePalo DK, Dugan MM, Zager JS, Elleson KM, Sabel MS, Hieken TJ, Kottschade LA, Ollila DW, Pham V, Archer D, Berman RS, Lee AY, Cintolo-Gonzalez JA, McDonald HG, Winchester S, Burke EE, Rhodin KE, Beasley GM, Broman KK. Montgomery KB, et al. Ann Surg Oncol. 2024 Dec 11. doi: 10.1245/s10434-024-16690-y. Online ahead of print. Ann Surg Oncol. 2024. PMID: 39663327 No abstract available.
634 results