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476 results

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Page 1
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: strupp m. medRxiv [Preprint]. 2023 Aug 5:2023.07.30.23293380. doi: 10.1101/2023.07.30.23293380. medRxiv. 2023. PMID: 37577458 Free PMC article. Updated. Preprint.
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.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: strupp m. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: strupp m. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
[Update on central oculomotor disorders and nystagmus].
Helmchen C, Heide W, Strupp ML, Straumann D. Helmchen C, et al. Among authors: strupp ml. Laryngorhinootologie. 2024 Jan 9. doi: 10.1055/a-2192-7319. Online ahead of print. Laryngorhinootologie. 2024. PMID: 38195848 German.
[The six most frequent peripheral vestibular syndromes].
Strupp ML, Zwergal A, Goldschagg N. Strupp ML, et al. Laryngorhinootologie. 2024 Mar;103(3):196-206. doi: 10.1055/a-2144-3801. Epub 2023 Dec 22. Laryngorhinootologie. 2024. PMID: 38134907 German.
Meningoencephalitis and retinal vasculitis due to rickettsial infection.
Lehner L, Thurau S, Pusl K, Tiedt S, Schöberl F, Forbrig R, Höglinger G, Strupp M. Lehner L, et al. Among authors: strupp m. J Neurol. 2024 Mar;271(3):1469-1472. doi: 10.1007/s00415-023-12097-z. Epub 2023 Nov 24. J Neurol. 2024. PMID: 38001378 Free PMC article. No abstract available.
[What's behind cerebellar dizziness? - News on diagnosis and therapy].
Feil K, Rattay TW, Adeyemi AK, Goldschagg N, Strupp ML. Feil K, et al. Among authors: strupp ml. Laryngorhinootologie. 2024 May;103(5):337-343. doi: 10.1055/a-2192-7278. Epub 2023 Nov 21. Laryngorhinootologie. 2024. PMID: 37989215 Review. German.
476 results