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Page 1
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: bernsen s. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
Meyer T, Schumann P, Weydt P, Petri S, Koc Y, Spittel S, Bernsen S, Günther R, Weishaupt JH, Dreger M, Kolzarek F, Kettemann D, Norden J, Boentert M, Vidovic M, Meisel C, Münch C, Maier A, Körtvélyessy P. Meyer T, et al. Among authors: bernsen s. Muscle Nerve. 2023 Jun;67(6):515-521. doi: 10.1002/mus.27818. Epub 2023 Apr 3. Muscle Nerve. 2023. PMID: 36928619
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study.
Meyer T, Dreger M, Grehl T, Weyen U, Kettemann D, Weydt P, Günther R, Lingor P, Petri S, Koch JC, Großkreutz J, Rödiger A, Baum P, Hermann A, Prudlo J, Boentert M, Weishaupt JH, Löscher WN, Dorst J, Koc Y, Bernsen S, Cordts I, Vidovic M, Steinbach R, Metelmann M, Kleinveld VE, Norden J, Ludolph A, Walter B, Schumann P, Münch C, Körtvélyessy P, Maier A. Meyer T, et al. Among authors: bernsen s. Eur J Neurol. 2024 Sep;31(9):e16379. doi: 10.1111/ene.16379. Epub 2024 Jun 10. Eur J Neurol. 2024. PMID: 38859579 Free PMC article.
Clinical and patient-reported outcomes and neurofilament response during tofersen treatment in SOD1-related ALS-A multicenter observational study over 18 months.
Meyer T, Schumann P, Weydt P, Petri S, Weishaupt JH, Weyen U, Koch JC, Günther R, Regensburger M, Boentert M, Wiesenfarth M, Koc Y, Kolzarek F, Kettemann D, Norden J, Bernsen S, Elmas Z, Conrad J, Valkadinov I, Vidovic M, Dorst J, Ludolph AC, Hesebeck-Brinckmann J, Spittel S, Münch C, Maier A, Körtvélyessy P. Meyer T, et al. Among authors: bernsen s. Muscle Nerve. 2024 Sep;70(3):333-345. doi: 10.1002/mus.28182. Epub 2024 Jun 20. Muscle Nerve. 2024. PMID: 39031772
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
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.
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