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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
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.
Acta Neuropathol. 2024 Jan 20;147(1):20. doi: 10.1007/s00401-023-02670-1.
Acta Neuropathol. 2024.
PMID: 38244079
Free PMC article.
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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.
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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.
PMID: 37461597
Free PMC article.
Updated.
Preprint.
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Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.
Kandhaya-Pillai R, Hisama FM, Bucks SA, Yarzar S, Korovou H, Martin GM, Oshima J.
Kandhaya-Pillai R, et al. Among authors: bucks sa.
Aging Pathobiol Ther. 2020;2(2):101-105. doi: 10.31491/apt.2020.06.021.
Aging Pathobiol Ther. 2020.
PMID: 32954377
Free PMC article.
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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.
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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.
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Supporting cells remove and replace sensory receptor hair cells in a balance organ of adult mice.
Bucks SA, Cox BC, Vlosich BA, Manning JP, Nguyen TB, Stone JS.
Bucks SA, et al.
Elife. 2017 Mar 6;6:e18128. doi: 10.7554/eLife.18128.
Elife. 2017.
PMID: 28263708
Free PMC article.
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