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Page 1
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M, Özdemir S, Fritz C, Möbius W, Kleineidam L, Mandelkow E, Biernat J, Doğdu C, Peters O, Cosma NC, Wang X, Schneider LS, Priller J, Spruth E, Kühn AA, Krause P, Klockgether T, Vogt IR, Kimmich O, Spottke A, Hoffmann DC, Fliessbach K, Miklitz C, McCormick C, Weydt P, Falkenburger B, Brandt M, Guenther R, Dinter E, Wiltfang J, Hansen N, Bähr M, Zerr I, Flöel A, Nestor PJ, Düzel E, Glanz W, Incesoy E, Bürger K, Janowitz D, Perneczky R, Rauchmann BS, Hopfner F, Wagemann O, Levin J, Teipel S, Kilimann I, Goerss D, Prudlo J, Gasser T, Brockmann K, Mengel D, Zimmermann M, Synofzik M, Wilke C, Selma-González J, Turon-Sans J, Santos-Santos MA, Alcolea D, Rubio-Guerra S, Fortea J, Carbayo Á, Lleó A, Rojas-García R, Illán-Gala I, Wagner M, Frommann I, Roeske S, Bertram L, Heneka MT, Brosseron F, Ramirez A, Schmid M, Beschorner R, Halle A, Herms J, Neumann M, Barthélemy NR, Bateman RJ, Rizzu P, Heutink P, Dols-Icardo O, Höglinger G, Hermann A, Schneider A. Chatterjee M, et al. Among authors: klockgether t. Nat Med. 2024 Jun;30(6):1771-1783. doi: 10.1038/s41591-024-02937-4. Epub 2024 Jun 18. Nat Med. 2024. PMID: 38890531 Free PMC article.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, Hubener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Oz G, Joers JM, Synofzik M, Schols L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T. Faber J, et al. Among authors: klockgether t. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Faber J, Berger M, Carlo W, Hübener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Jeroen, Oz G, Joers JM, Synofzik M, Schöls L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T. Faber J, et al. Among authors: klockgether t. medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817. medRxiv. 2023. Update in: Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824 PMID: 37163081 Free PMC article. Updated. Preprint.
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: klockgether t. 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.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: klockgether t. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.
Weber N, Buchholz M, Rädke A, Faber J, Schmitz-Hübsch T, Jacobi H, Klockgether T, Hoffmann W, Michalowsky B; EUROSCA study group; ESMI study group. Weber N, et al. Among authors: klockgether t. Cerebellum. 2024 Aug;23(4):1466-1477. doi: 10.1007/s12311-024-01657-2. Epub 2024 Jan 27. Cerebellum. 2024. PMID: 38279001 Free PMC article.
Subtypes of cognitive impairment in cerebellar disease identified by cross-diagnostic cluster-analysis: results from a German multicenter study.
Liu Q, Rubarth K, Faber J, Sulzer P, Dogan I, Barkhoff M, Minnerop M, Berlijn AM, Elben S, Jacobi H, Aktories JE, Huvermann DM, Erdlenbruch F, Van der Veen R, Müller J, Nio E, Frank B, Köhrmann M, Wondzinski E, Siebler M, Reetz K, Konczak J, Konietschke F, Klockgether T, Synofzik M, Röske S, Timmann D, Thieme A. Liu Q, et al. Among authors: klockgether t. J Neurol. 2024 Dec 21;272(1):83. doi: 10.1007/s00415-024-12831-1. J Neurol. 2024. PMID: 39708269 Free PMC article.
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Elter TL, Sturm D, Santana MM, Schaprian T, Raposo M, Melo ARV, Lima M, Koyak B, Oender D, Grobe-Einsler M, Lopes S, Silva P, de Almeida LP, Giunti P, Garcia-Moreno H, Nethisinhe S, de Vries J, van de Warrenburg BP, van Gaalen J, Synofzik M, Schöls L, Reetz K, Erdlenbruch F, Jacobi H, Infante J, Riess O, Klockgether T; ESMI study group; Faber J, Hübener-Schmid J. Elter TL, et al. Among authors: klockgether t. J Neurol. 2024 Dec 12;272(1):54. doi: 10.1007/s00415-024-12829-9. J Neurol. 2024. PMID: 39666145 Free PMC article.
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. Petit E, et al. Among authors: klockgether t. J Neurol. 2024 Jul;271(7):3743-3753. doi: 10.1007/s00415-024-12475-1. Epub 2024 Jun 1. J Neurol. 2024. PMID: 38822840 Free PMC article.
553 results