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479 results

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Page 1
The dissociation between pathological caloric testing and a normal video head impulse test helps differentiate between Menière's disease, vestibular migraine, and other vestibular disorders: a confirmatory study in a large cohort of 2,101 patients.
Mavrodiev V, Strupp M, Vinck AS, van de Berg R, Lehner L. Mavrodiev V, et al. Among authors: strupp m. Front Neurol. 2024 Aug 14;15:1449261. doi: 10.3389/fneur.2024.1449261. eCollection 2024. Front Neurol. 2024. PMID: 39206283 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.
Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
Dinkel L, Hummel S, Zenatti V, Malara M, Tillmann Y, Colombo A, Monasor LS, Suh JH, Logan T, Roth S, Paeger L, Hoffelner P, Bludau O, Schmidt A, Müller SA, Schifferer M, Nuscher B, Njavro JR, Prestel M, Bartos LM, Wind-Mark K, Slemann L, Hoermann L, Kunte ST, Gnörich J, Lindner S, Simons M, Herms J, Paquet D, Lichtenthaler SF, Bartenstein P, Franzmeier N, Liesz A, Grosche A, Bremova-Ertl T, Catarino C, Beblo S, Bergner C, Schneider SA, Strupp M, Di Paolo G, Brendel M, Tahirovic S. Dinkel L, et al. Among authors: strupp m. Sci Transl Med. 2024 Dec 4;16(776):eadl4616. doi: 10.1126/scitranslmed.adl4616. Epub 2024 Dec 4. Sci Transl Med. 2024. PMID: 39630885
Acetyl-DL-leucine in two individuals with REM sleep behavior disorder improves symptoms, reverses loss of striatal dopamine-transporter binding and stabilizes pathological metabolic brain pattern-case reports.
Oertel WH, Janzen A, Henrich MT, Geibl FF, Sittig E, Meles SK, Carli G, Leenders K, Booij J, Surmeier DJ, Timmermann L, Strupp M. Oertel WH, et al. Among authors: strupp m. Nat Commun. 2024 Sep 2;15(1):7619. doi: 10.1038/s41467-024-51502-7. Nat Commun. 2024. PMID: 39223119 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 Jun;103(6):413-421. doi: 10.1055/a-2192-7319. Epub 2024 Jan 9. Laryngorhinootologie. 2024. PMID: 38195848 Review. German.
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.
479 results