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An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson KR, Reed X, Johnson NL, Kollasch AW, Duffy MF, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Marks DS, Yokoyama JS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: bielekova b. Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. Epub 2024 Jun 26. Alzheimers Dement. 2024. PMID: 38923692 Free PMC article.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson K, Reed X, Johnson NL, Kollasch AW, Duffy M, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Yokoyama JS, Marks DS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: bielekova b. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. Update in: Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915 PMID: 37886540 Free PMC article. Updated. Preprint.
Development and multi-center validation of a fully automated digital immunoassay for neurofilament light chain: toward a clinical blood test for neuronal injury.
Wilson D, Chan D, Chang L, Mathis R, Verberk I, Montalban X, Comabella M, Fissolo N, Bielekova B, Masvekar R, Chitnis T, Ziemssen T, Akgün K, Blennow K, Zetterberg H, Brück W, Giovannoni G, Gnanapavan S, Bittner S, Zipp F, Comi G, Furlan R, Lehmann S, Thebault S, Freedman M, Bar-Or A, Kramer M, Otto M, Halbgebauer S, Hrusovsky K, Plavina T, Khalil M, Piehl F, Wiendl H, Kappos L, Maceski A, Willemse E, Leppert D, Teunissen C, Kuhle J. Wilson D, et al. Among authors: bielekova b. Clin Chem Lab Med. 2023 Sep 13;62(2):322-331. doi: 10.1515/cclm-2023-0518. Print 2024 Jan 26. Clin Chem Lab Med. 2023. PMID: 37702323
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Beers BJ, Similuk MN, Ghosh R, Seifert BA, Jamal L, Kamen M, Setzer MR, Jodarski C, Duncan R, Hunt D, Mixer M, Cao W, Bi W, Veltri D, Karlins E, Zhang L, Li Z, Oler AJ, Jevtich K, Yu Y, Hullfish H, Bielekova B, Frischmeyer-Guerrerio P, Dang Do A, Huryn LA, Olivier KN, Su HC, Lyons JJ, Zerbe CS, Rao VK, Keller MD, Freeman AF, Holland SM, Franco LM, Walkiewicz MA, Yan J. Beers BJ, et al. Among authors: bielekova b. Front Immunol. 2023 May 5;14:1172004. doi: 10.3389/fimmu.2023.1172004. eCollection 2023. Front Immunol. 2023. PMID: 37215141 Free PMC article.
Prognostic performance of blood neurofilament light chain protein in hospitalized COVID-19 patients without major central nervous system manifestations: an individual participant data meta-analysis.
Abdelhak A, Barba L, Romoli M, Benkert P, Conversi F, D'Anna L, Masvekar RR, Bielekova B, Prudencio M, Petrucelli L, Meschia JF, Erben Y, Furlan R, De Lorenzo R, Mandelli A, Sutter R, Hert L, Epple V, Marastoni D, Sellner J, Steinacker P, Aamodt AH, Heggelund L, Dyrhol-Riise AM, Virhammar J, Fällmar D, Rostami E, Kumlien E, Blennow K, Zetterberg H, Tumani H, Sacco S, Green AJ, Otto M, Kuhle J, Ornello R, Foschi M, Abu-Rumeileh S. Abdelhak A, et al. Among authors: bielekova b. J Neurol. 2023 Jul;270(7):3315-3328. doi: 10.1007/s00415-023-11768-1. Epub 2023 May 15. J Neurol. 2023. PMID: 37184659 Free PMC article.
112 results