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A pedigree with CHAPLE disease: variable penetrance and treatment with pozelimab.
de Boer ECW, van der Kruk N, Pouw RB, van Limbergen JE, Kuijpers TW. de Boer ECW, et al. Clin Gastroenterol Hepatol. 2024 Dec 15:S1542-3565(24)01098-X. doi: 10.1016/j.cgh.2024.11.015. Online ahead of print. Clin Gastroenterol Hepatol. 2024. PMID: 39689772 Free article. No abstract available.
Diagnosing primary lateral sclerosis: a clinico-pathological study.
de Boer EMJ, de Vries BS, Van Hecke W, Mühlebner A, Vincken KL, Mol CP, van Rheenen W, Westeneng HJ, Veldink JH, Höglinger GU, Morris HR, Litvan I, Raaphorst J, Ticozzi N, Corcia P, Vandenberghe W, Pijnenburg YAL, Seelaar H, Ingre C, Van Damme P, van den Berg LH, van de Warrenburg BPC, van Es MA. de Boer EMJ, et al. J Neurol. 2024 Dec 12;272(1):46. doi: 10.1007/s00415-024-12816-0. J Neurol. 2024. PMID: 39666071
Normothermic Machine Perfusion Reconstitutes Porcine Kidney Tissue Metabolism But Induces an Inflammatory Response, Which Is Reduced by Complement C5 Inhibition.
de Boer E, Sokolova M, Jager NM, Schjalm C, Weiss MG, Liavåg OM, Maassen H, van Goor H, Thorgersen EB, Pettersen K, Christiansen D, Ludviksen JK, Jespersen B, Mollnes TE, Leuvenink HGD, Pischke SE. de Boer E, et al. Transpl Int. 2024 Nov 13;37:13348. doi: 10.3389/ti.2024.13348. eCollection 2024. Transpl Int. 2024. PMID: 39606689 Free PMC article.
Activation of the Innate Immune System in Brain-Dead Donors Can Be Reduced by Luminal Intestinal Preservation During Organ Procurement Surgery - A Porcine Model.
Weiss MG, de Jong AM, Seegert H, Moeslund N, Maassen H, Schjalm C, de Boer E, Leuvenink H, Mollnes TE, Eijken M, Keller AK, Dijkstra G, Jespersen B, Pischke SE. Weiss MG, et al. Among authors: de boer e. Transpl Int. 2024 Oct 31;37:13569. doi: 10.3389/ti.2024.13569. eCollection 2024. Transpl Int. 2024. PMID: 39544322 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. Among authors: de boer e. 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.
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.
551 results