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PubMed (GeneRIF) for id: 311

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Page 1
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Natera-de Benito D, Olival J, Garcia-Cabau C, Jou C, Roldan M, Codina A, Expósito-Escudero J, Batlle C, Carrera-García L, Ortez C, Salvatella X, Palau F, Nascimento A, Hoenicka J. Natera-de Benito D, et al. Ann Clin Transl Neurol. 2023 Mar;10(3):408-425. doi: 10.1002/acn3.51731. Epub 2023 Jan 18. Ann Clin Transl Neurol. 2023. PMID: 36651622 Free PMC article.
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Johari M, Papadimas G, Papadopoulos C, Xirou S, Kanavaki A, Chrysanthou-Piterou M, Rusanen S, Savarese M, Hackman P, Udd B. Johari M, et al. Ann Clin Transl Neurol. 2022 Oct;9(10):1660-1667. doi: 10.1002/acn3.51665. Epub 2022 Sep 22. Ann Clin Transl Neurol. 2022. PMID: 36134701 Free PMC article.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Leoni TB, González-Salazar C, Rezende TJR, Hernández ALC, Mattos AHB, Coimbra Neto AR, da Graça FF, Gonçalves JPN, Martinez ARM, Taniguti L, Kitajima JP, Kok F, Rogério F, da Silva AMS, de Oliveira ALR, Zanoteli E, Nucci A, França MC Jr. Leoni TB, et al. Ann Neurol. 2021 Aug;90(2):239-252. doi: 10.1002/ana.26136. Epub 2021 Jun 14. Ann Neurol. 2021. PMID: 34048612
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, Meininger V, Le Forestier N, Salachas F, Couratier P, Camu W, Seilhean D, Millecamps S. Teyssou E, et al. Neurobiol Aging. 2021 Mar;99:102.e11-102.e20. doi: 10.1016/j.neurobiolaging.2020.10.015. Epub 2020 Oct 23. Neurobiol Aging. 2021. PMID: 33218681
39 results