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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2013 1
2014 2
2015 1
2016 1
2017 2
2019 1
2020 3
2021 7
2022 6
2023 2
2024 4

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29 results

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Page 1
Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A. Huin V, et al. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. Brain. 2022. PMID: 34927205 Free article.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Two RFC1 splicing variants in CANVAS.
Weber S, Coarelli G, Heinzmann A, Monin ML, Richard N, Gerard M, Durr A, Huin V. Weber S, et al. Among authors: huin v. Brain. 2023 Mar 1;146(3):e14-e16. doi: 10.1093/brain/awac466. Brain. 2023. PMID: 36478048 No abstract available.
RFC1: Motifs and phenotypes.
Delforge V, Tard C, Davion JB, Dujardin K, Wissocq A, Dhaenens CM, Mutez E, Huin V. Delforge V, et al. Among authors: huin v. Rev Neurol (Paris). 2024 Apr 15:S0035-3787(24)00484-3. doi: 10.1016/j.neurol.2024.03.006. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38627134 Free article. Review.
Conservative Iron Chelation for Neuroferritinopathy.
Marchand F, Moreau C, Kuchcinski G, Huin V, Defebvre L, Devos D. Marchand F, et al. Among authors: huin v. Mov Disord. 2022 Sep;37(9):1948-1952. doi: 10.1002/mds.29145. Epub 2022 Aug 22. Mov Disord. 2022. PMID: 35996824 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Coku I, Mutez E, Eddarkaoui S, Carrier S, Marchand A, Deldycke C, Goveas L, Baille G, Tir M, Magnez R, Thuru X, Vermeersch G, Vandenberghe W, Buée L, Defebvre L, Sablonnière B, Chartier-Harlin MC, Taymans JM, Huin V. Coku I, et al. Among authors: huin v. Mov Disord. 2022 Aug;37(8):1761-1767. doi: 10.1002/mds.29124. Epub 2022 Jun 16. Mov Disord. 2022. PMID: 35708213 Free PMC article.
29 results