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Page 1
Self-assessment of amyotrophic lateral sclerosis functional rating scale on the patient's smartphone proves to be non-inferior to clinic data capture.
Steinfurth L, Grehl T, Weyen U, Kettemann D, Steinbach R, Rödiger A, Grosskreutz J, Petri S, Boentert M, Weydt P, Bernsen S, Walter B, GüNTHER R, Lingor P, Koch JC, Baum P, Weishaupt JH, Dorst J, Koc Y, Cordts I, Vidovic M, Norden J, Schumann P, Körtvélyessy P, Spittel S, Münch C, Maier A, Meyer T. Steinfurth L, et al. Among authors: cordts i. Amyotroph Lateral Scler Frontotemporal Degener. 2025 Feb 22:1-12. doi: 10.1080/21678421.2025.2468404. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2025. PMID: 39985291 Free article.
Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.
Cordts I, Fuetterer C, Wachinger A, von Heynitz R, Kessler T, Freigang M, Quinten AL, Bjelica B, Brakemeier S, Hobbiebrunken E, Hagenacker T, Petri S, Koch JC, Hahn A, Lingor P, Deschauer M, Günther R, Weiler M, Haller B, Feneberg E. Cordts I, et al. Neurology. 2025 Mar 11;104(5):e213371. doi: 10.1212/WNL.0000000000213371. Epub 2025 Feb 13. Neurology. 2025. PMID: 39946662 Free PMC article.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Lee YC, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Among authors: cordts i. Brain. 2025 Feb 13:awaf021. doi: 10.1093/brain/awaf021. Online ahead of print. Brain. 2025. PMID: 39938083
Shared prognostic information in amyotrophic lateral sclerosis - systematic assessment of the patients' perception of neurofilament light chain and the ALS functional rating scale.
Möhwald LM, Maier A, Grehl T, Weyen U, Weydt P, Günther R, Lingor P, Göricke B, Petri S, Grosskreutz J, Boentert M, Cordts I, Weishaupt JH, Dorst J, Münch C, Meyer T, Baum P. Möhwald LM, et al. Among authors: cordts i. Neurol Res Pract. 2025 Feb 6;7(1):6. doi: 10.1186/s42466-024-00363-y. Neurol Res Pract. 2025. PMID: 39910638 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.
Koch JC, Leha A, Bidner H, Cordts I, Dorst J, Günther R, Zeller D, Braun N, Metelmann M, Corcia P, De La Cruz E, Weydt P, Meyer T, Großkreutz J, Soriani MH, Attarian S, Weishaupt JH, Weyen U, Kuttler J, Zurek G, Rogers ML, Feneberg E, Deschauer M, Neuwirth C, Wuu J, Ludolph AC, Schmidt J, Remane Y, Camu W, Friede T, Benatar M, Weber M, Lingor P; ROCK-ALS Study group. Koch JC, et al. Among authors: cordts i. Lancet Neurol. 2024 Nov;23(11):1133-1146. doi: 10.1016/S1474-4422(24)00373-9. Lancet Neurol. 2024. PMID: 39424560 Free article. Clinical Trial.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
Mandler JM, Härtl J, Cordts I, Sturm M, Hedderich DM, Bafligil C, Baki E, Becker B, Machetanz G, Haack TB, Berthele A, Hemmer B, Deschauer M. Mandler JM, et al. Among authors: cordts i. Mult Scler J Exp Transl Clin. 2024 Jul 24;10(3):20552173241263491. doi: 10.1177/20552173241263491. eCollection 2024 Jul-Sep. Mult Scler J Exp Transl Clin. 2024. PMID: 39072298 Free PMC article.
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: cordts i. 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.
58 results