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Page 1
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K. Pauly MG, et al. Among authors: munchau a. Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Genes (Basel). 2023. PMID: 37107582 Free PMC article. Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Slips of the tongue in patients with Gilles de la Tourette syndrome.
Robert C, Weiblen R, Wagner-Altendorf TA, Paulus T, Müller-Vahl K, Münchau A, Krämer UM, Heldmann M, Roessner V, Münte TF. Robert C, et al. Among authors: munchau a. Neurol Res Pract. 2024 May 2;6(1):25. doi: 10.1186/s42466-024-00324-5. Neurol Res Pract. 2024. PMID: 38693574 Free PMC article.
Separating binding and retrieval of event files in older adults.
Münster ND, Schmalbrock P, Bäumer T, Hommel B, Beste C, Münchau A, Frings C. Münster ND, et al. Among authors: munchau a. Acta Psychol (Amst). 2024 Apr;244:104190. doi: 10.1016/j.actpsy.2024.104190. Epub 2024 Feb 17. Acta Psychol (Amst). 2024. PMID: 38368782 Free article.
The comorbidity profiles and medication issues of patients with multiple system atrophy: a systematic cross-sectional analysis.
Ye L, Greten S, Wegner F, Doll-Lee J, Krey L, Heine J, Gandor F, Vogel A, Berger L, Gruber D, Levin J, Katzdobler S, Peters O, Dashti E, Priller J, Spruth EJ, Kühn AA, Krause P, Spottke A, Schneider A, Beyle A, Kimmich O, Donix M, Haussmann R, Brandt M, Dinter E, Wiltfang J, Schott BH, Zerr I, Bähr M, Buerger K, Janowitz D, Perneczky R, Rauchmann BS, Weidinger E, Düzel E, Glanz W, Teipel S, Kilimann I, Wurster I, Brockmann K, Hoffmann DC, Klockgether T, Krause O, Heck J; PROMESA study group; Höglinger GU, Klietz M. Ye L, et al. J Neurol. 2024 May;271(5):2639-2648. doi: 10.1007/s00415-024-12207-5. Epub 2024 Feb 14. J Neurol. 2024. PMID: 38353748 Free PMC article.
423 results