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36 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: fazeli w. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: fazeli w. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Rituximab Treatment and Long-term Outcome of Patients With Autoimmune Encephalitis: Real-world Evidence From the GENERATE Registry.
Thaler FS, Zimmermann L, Kammermeier S, Strippel C, Ringelstein M, Kraft A, Sühs KW, Wickel J, Geis C, Markewitz R, Urbanek C, Sommer C, Doppler K, Penner L, Lewerenz J, Rößling R, Finke C, Prüss H, Melzer N, Wandinger KP, Leypoldt F, Kümpfel T; German Network for Research on Autoimmune Encephalitis (GENERATE). Thaler FS, et al. Neurol Neuroimmunol Neuroinflamm. 2021 Oct 1;8(6):e1088. doi: 10.1212/NXI.0000000000001088. Print 2021 Nov. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34599001 Free PMC article.
Early Treatment With Intravenous Immunoglobulins and Outcomes of Patients With Anti-IgLON5 Disease.
Grüter T, Gaig C, Crijnen YS, Titulaer MJ, Sabater L, Heidbreder A, Dargvainiene J, Tietz A, Kovac S, Dik A, Erro ME, Lewerenz J, Kraft A, Seifert F, Höftberger R, Thaler FS, de Azevedo L, Wickel J, de Vries JM, Boon AJW, van Steenhoven RW, Gold R, Wandinger KP, Kuhlenbäumer G, Dalmau JO, Leypoldt F, Graus F, Ayzenberg I; Anti-IgLON5 Disease Study Group. Grüter T, et al. JAMA Neurol. 2025 Oct 1;82(10):1040-1047. doi: 10.1001/jamaneurol.2025.2574. JAMA Neurol. 2025. PMID: 40758377
A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.
Strippel C, Herrera-Rivero M, Wendorff M, Tietz AK, Degenhardt F, Witten A, Schroeter C, Nelke C, Golombeck KS, Madlener M, Rüber T, Ernst L, Racz A, Baumgartner T, Widman G, Doppler K, Thaler F, Siebenbrodt K, Dik A, Kerin C, Räuber S, Gallus M, Kovac S, Grauer OM, Grimm A, Prüss H, Wickel J, Geis C, Lewerenz J, Goebels N, Ringelstein M, Menge T, Tackenberg B, Kellinghaus C, Bien CG, Kraft A, Zettl U, Ismail FS, Ayzenberg I, Urbanek C, Sühs KW, Tauber SC, Mues S, Körtvélyessy P, Markewitz R, Paliantonis A, Elger CE, Surges R, Sommer C, Kümpfel T, Gross CC, Lerche H, Wellmer J, Quesada CM, Then Bergh F, Wandinger KP, Becker AJ, Kunz WS, Meyer Zu Hörste G, Malter MP, Rosenow F, Wiendl H, Kuhlenbäumer G, Leypoldt F, Lieb W, Franke A, Meuth SG, Stoll M, Melzer N; German Network for Research on Autoimmune Encephalitis (GENERATE). Strippel C, et al. Brain. 2023 Mar 1;146(3):977-990. doi: 10.1093/brain/awac119. Brain. 2023. PMID: 35348614 Free PMC article.
Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease.
Grüter T, Möllers FE, Tietz A, Dargvainiene J, Melzer N, Heidbreder A, Strippel C, Kraft A, Höftberger R, Schöberl F, Thaler FS, Wickel J, Chung HY, Seifert F, Tschernatsch M, Nagel M, Lewerenz J, Jarius S, Wildemann BC, de Azevedo L, Heidenreich F, Heusgen R, Hofstadt-van Oy U, Linsa A, Maaß JJ, Menge T, Ringelstein M, Pedrosa DJ, Schill J, Seifert-Held T, Seitz C, Tonner S, Urbanek C, Zittel S, Markewitz R, Korporal-Kuhnke M, Schmitter T, Finke C, Brüggemann N, Bien CI, Kleiter I, Gold R, Wandinger KP, Kuhlenbäumer G, Leypoldt F, Ayzenberg I; German Network for Research on Autoimmune Encephalitis (GENERATE). Grüter T, et al. Brain. 2023 Feb 13;146(2):600-611. doi: 10.1093/brain/awac090. Brain. 2023. PMID: 35259208
Development and Adaptive Function in Individuals With SCN2A-Related Disorders.
Goad BS, Rodda J, Allen M, Bamborschke D, Overmars I, Kerr RJ, Bushlin I, Chopra S, Coorg R, Dabscheck G, Freeman JL, Mackay MT, Devinsky O, Guerrini R, Parrini E, Bölsterli B, Hughes I, Huh LL, Kamate M, Kunz AB, Melikishvili G, Miteff C, Myers KA, Olson HE, Poduri A, Pillai S, Riney CK, Sinclair A, Calvert S, Reynolds TQ, Martinez AR, Russo A, Sadleir LG, Sanchez-Albisua I, Sartori S, Shea S, Smith-Hicks CL, Spooner CG, Thomas RH, Ardern-Holmes SL, Webster RI, Valeriani M, Veggiotti P, Masnada S, Ware TL, Yoong M, Berecki G, De Dominicis A, Specchio N, Trivisano M, Møller RS, Wolff M, Fazeli W, Scheffer I, Howell KB. Goad BS, et al. Among authors: fazeli w. Neurology. 2025 Aug 12;105(3):e213868. doi: 10.1212/WNL.0000000000213868. Epub 2025 Jul 22. Neurology. 2025. PMID: 40694750
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy.
Wagner M, Berecki G, Fazeli W, Nussbaum C, Flemmer AW, Frizzo S, Heer F, Heinen F, Horton R, Jacotin H, Motel W, Spar B, Klein C, Siegel C, Hübener C, Stöcklein S, Paolini M, Staudt M, Tacke M, Wolff M, Petrou S, Souza M, Borggraefe I. Wagner M, et al. Among authors: fazeli w. Nat Med. 2025 Jul;31(7):2174-2178. doi: 10.1038/s41591-025-03656-0. Epub 2025 Apr 22. Nat Med. 2025. PMID: 40263630 Free PMC article.
Different pain phenotypes are associated with anti-Caspr2 autoantibodies.
Greguletz P, Plötz M, Baade-Büttner C, Bien CG, Eisenhut K, Geis C, Handreka R, Klausewitz J, Körtvelyessy P, Kovac S, Kraft A, Lewerenz J, Malter M, Nagel M, von Podewils F, Prüß H, Rada A, Rau J, Rauer S, Rößling R, Seifert-Held T, Siebenbrodt K, Sühs KW, Tauber SC, Thaler F, Wagner J, Wickel J, Leypoldt F, Rittner HL, Sommer C, Villmann C, Doppler K; GENERATE study group. Greguletz P, et al. J Neurol. 2024 May;271(5):2736-2744. doi: 10.1007/s00415-024-12224-4. Epub 2024 Feb 22. J Neurol. 2024. PMID: 38386048 Free PMC article.
Comorbidities and Their Influence on Outcomes and Infectious Complications in Autoimmune Encephalitis: A Multicenter Cohort Study.
Bohn A, Angstwurm K, Bien CG, Doppler K, Ehmke L, Havla J, Hoffmann F, Hudasch D, Klausewitz J, Konen FF, Korporal-Kuhnke M, Kraft A, Kümpfel T, Leypoldt F, Madlener M, Pfeffer LK, Pfeuffer S, Pul D, Rada A, Rauer S, Sänger C, Seifert-Held T, Sühs KW, Thaler FS, Tsaktanis T, Vlad B, Wandinger KP, Wickel J, Tauber SC; GENERATE study group. Bohn A, et al. Neurol Neuroimmunol Neuroinflamm. 2025 Sep;12(5):e200434. doi: 10.1212/NXI.0000000000200434. Epub 2025 Jul 7. Neurol Neuroimmunol Neuroinflamm. 2025. PMID: 40623270 Free PMC article.
36 results