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Page 1
Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.
Caballero-Ávila M, Martín-Aguilar L, Pascual-Goñi E, Michael MR, Koel-Simmelink MJA, Höftberger R, Wanschitz J, Alonso-Jiménez A, Armangué T, Baars AE, Carbayo Á, Castek B, Collet-Vidiella R, De Winter J, Del Real MÁ, Delmont E, Diamanti L, Doneddu PE, Hiew FL, Gallardo E, Gonzalez A, Grinzinger S, Horga A, Iglseder S, Jacobs BC, Jauregui A, Killestein J, Pozza EL, Martínez-Martínez L, Nobile-Orazio E, Ortiz N, Pérez-Pérez H, Poppert KN, Ripellino P, Roche JC, Rodriguez de Rivera FJ, Rostasy K, Sparasci D, Tejada-Illa C, Teunissen CCE, Vegezzi E, Xuclà-Ferrarons T, Zach F, Wieske L, Eftimov F, Lleixà C, Querol L. Caballero-Ávila M, et al. Among authors: de winter j. Ann Neurol. 2024 Nov 27. doi: 10.1002/ana.27142. Online ahead of print. Ann Neurol. 2024. PMID: 39601182
Autochthonous Cases of Tick-Borne Encephalitis, Belgium, 2020.
Stoefs A, Heyndrickx L, De Winter J, Coeckelbergh E, Willekens B, Alonso-Jiménez A, Tuttino AM, Geerts Y, Ariën KK, Van Esbroeck M. Stoefs A, et al. Among authors: de winter j. Emerg Infect Dis. 2021 Aug;27(8):2179-2182. doi: 10.3201/eid2708.211175. Epub 2021 Jun 10. Emerg Infect Dis. 2021. PMID: 34111382 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.
Ergonomics & Human factors: fade of a discipline.
de Winter JCF, Eisma YB. de Winter JCF, et al. Ergonomics. 2024 Oct 23:1-9. doi: 10.1080/00140139.2024.2416553. Online ahead of print. Ergonomics. 2024. PMID: 39440364 Free article.
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872. medRxiv. 2024. PMID: 39371122 Free PMC article. Preprint.
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.
389 results