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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis.
Raby A, Missiroli S, Sanatine P, Langui D, Pansiot J, Beaude N, Vezzana L, Saleh R, Marinello M, Laforge M, Pinton P, Buj-Bello A, Burgo A. Raby A, et al. Among authors: burgo a. iScience. 2024 Aug 6;27(9):110683. doi: 10.1016/j.isci.2024.110683. eCollection 2024 Sep 20. iScience. 2024. PMID: 39252960 Free PMC article.
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y. Genet Med. 2021. PMID: 33353973 Free article. No abstract available.
Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons.
Plaud C, Joshi V, Marinello M, Pastré D, Galli T, Curmi PA, Burgo A. Plaud C, et al. Among authors: burgo a. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1666-1677. doi: 10.1016/j.bbadis.2017.04.007. Epub 2017 Apr 7. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28392418 Free article.
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