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Page 1
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S. Braggin JE, et al. Among authors: bucks sa. Ann Clin Transl Neurol. 2019 Mar 10;6(4):762-777. doi: 10.1002/acn3.755. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31020001 Free PMC article.
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Korvatska O, Bucks SA, Yoda RA, Nolan A, Dorschner MO, Tsuang D, Jayadev S, Raskind WH, Bird TD. Korvatska O, et al. Among authors: bucks sa. J Neurol Sci. 2023 Sep 15;452:120763. doi: 10.1016/j.jns.2023.120763. Epub 2023 Aug 7. J Neurol Sci. 2023. PMID: 37598468 Free PMC article.
Characterization of Adult Vestibular Organs in 11 CreER Mouse Lines.
Stone JS, Wisner SR, Bucks SA, Mellado Lagarde MM, Cox BC. Stone JS, et al. Among authors: bucks sa. J Assoc Res Otolaryngol. 2018 Aug;19(4):381-399. doi: 10.1007/s10162-018-0676-6. Epub 2018 Jun 4. J Assoc Res Otolaryngol. 2018. PMID: 29869046 Free PMC article.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: bucks sa. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E, Child DD, Bucks SA, Stovarsky M, Edwards G, Rose SE, Yu CE, Latimer C, Kitago Y, Bird T, Jayadev S, Andersen OM, Young JE. Fazeli E, et al. Among authors: bucks sa. bioRxiv [Preprint]. 2023 Nov 13:2023.07.01.547348. doi: 10.1101/2023.07.01.547348. bioRxiv. 2023. Update in: Acta Neuropathol. 2024 Jan 20;147(1):20. doi: 10.1007/s00401-023-02670-1 PMID: 37461597 Free PMC article. Updated. Preprint.