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Page 1
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: huppke p. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
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
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: huppke p. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Treatment of MOG antibody associated disorders: results of an international survey.
Whittam DH, Karthikeayan V, Gibbons E, Kneen R, Chandratre S, Ciccarelli O, Hacohen Y, de Seze J, Deiva K, Hintzen RQ, Wildemann B, Jarius S, Kleiter I, Rostasy K, Huppke P, Hemmer B, Paul F, Aktas O, Pröbstel AK, Arrambide G, Tintore M, Amato MP, Nosadini M, Mancardi MM, Capobianco M, Illes Z, Siva A, Altintas A, Akman-Demir G, Pandit L, Apiwattankul M, Hor JY, Viswanathan S, Qiu W, Kim HJ, Nakashima I, Fujihara K, Ramanathan S, Dale RC, Boggild M, Broadley S, Lana-Peixoto MA, Sato DK, Tenembaum S, Cabre P, Wingerchuk DM, Weinshenker BG, Greenberg B, Matiello M, Klawiter EC, Bennett JL, Wallach AI, Kister I, Banwell BL, Traboulsee A, Pohl D, Palace J, Leite MI, Levy M, Marignier R, Solomon T, Lim M, Huda S, Jacob A. Whittam DH, et al. Among authors: huppke p. J Neurol. 2020 Dec;267(12):3565-3577. doi: 10.1007/s00415-020-10026-y. Epub 2020 Jul 4. J Neurol. 2020. PMID: 32623595 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.
95 results