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Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Rattay TW, Rautenberg M, Söhn AS, Hengel H, Traschütz A, Röben B, Hayer SN, Schüle R, Wiethoff S, Zeltner L, Haack TB, Cegan A, Schöls L, Schleicher E, Peter A. Rattay TW, et al. Among authors: traschutz a. Sci Rep. 2020 Sep 15;10(1):15093. doi: 10.1038/s41598-020-71248-8. Sci Rep. 2020. PMID: 32934269 Free PMC article.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network. Rebelo AP, et al. Among authors: traschutz a. Brain. 2021 Jun 22;144(5):1467-1481. doi: 10.1093/brain/awab071. Brain. 2021. PMID: 33889951
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium; Synofzik M. Traschütz A, et al. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
50 results