Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.
Brock V, Wissocq A, Geoffre N, Marks C, Canel V, Huin V, Smirnov VM. Brock V, et al. Among authors: huin v. Eur J Ophthalmol. 2024 Apr 13:11206721241247418. doi: 10.1177/11206721241247418. Online ahead of print. Eur J Ophthalmol. 2024. PMID: 38613257
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.
Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.
Mutez E, Swiderski M, Devos D, Moreau C, Baille G, Degardin A, Ryckewaert G, Carriere N, Kreisler A, Simonin C, Rouaix N, Tir M, Krystkowiak P, Ramdane N, Génin M, Sablonnière B, Defebvre L, Huin V. Mutez E, et al. Among authors: huin v. Eur J Neurol. 2023 Jun;30(6):1667-1675. doi: 10.1111/ene.15788. Epub 2023 Mar 29. Eur J Neurol. 2023. PMID: 36916668
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.
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.
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.
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.
29 results