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Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS. De Pace R, et al. Among authors: roze e. Brain. 2024 May 3;147(5):1751-1767. doi: 10.1093/brain/awad427. Brain. 2024. PMID: 38128568 Free PMC article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: roze e. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Is ethyl chloride the new nitrous oxide? A case report.
Salardaine Q, Desjardins C, Baille G, Roze E, Nardin C. Salardaine Q, et al. Among authors: roze e. BMC Neurol. 2024 Jun 4;24(1):186. doi: 10.1186/s12883-024-03689-x. BMC Neurol. 2024. PMID: 38834958 Free PMC article.
Mirror Movements Due To a TUBB3 Variant.
Desjardins C, Gras D, Trouillard O, Dubacq C, Boespflug Tanguy O, Roze E. Desjardins C, et al. Among authors: roze e. Pediatr Neurol. 2023 Nov;148:142-144. doi: 10.1016/j.pediatrneurol.2023.08.027. Epub 2023 Aug 25. Pediatr Neurol. 2023. PMID: 37713978 No abstract available.
Can neuroscience enlighten the philosophical debate about free will?
Delnatte C, Roze E, Pouget P, Galléa C, Welniarz Q. Delnatte C, et al. Among authors: roze e. Neuropsychologia. 2023 Sep 9;188:108632. doi: 10.1016/j.neuropsychologia.2023.108632. Epub 2023 Jun 27. Neuropsychologia. 2023. PMID: 37385373 Review.
378 results