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Page 1
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Lemmers RJLF, et al. Among authors: de bleecker jl. Brain. 2024 Feb 1;147(2):414-426. doi: 10.1093/brain/awad312. Brain. 2024. PMID: 37703328 Free PMC article.
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N, Verdin H, Ghijsels J, Hellemans M, Debackere E, Bogaert E, Symoens S, Naesens L, Lecomte E, Crosiers D, Bergmans B, Verhoeven K, Poppe B, Laureys G, Herdewyn S, Van Langenhove T, Santens P, De Bleecker JL, Hemelsoet D, Dermaut B; for Program for Undiagnosed Rare Diseases (UD-PrOZA). Schuermans N, et al. Among authors: de bleecker jl. Neurol Genet. 2023 Apr 26;9(3):e200071. doi: 10.1212/NXG.0000000000200071. eCollection 2023 Jun. Neurol Genet. 2023. PMID: 37152446 Free PMC article.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: de bleecker jl. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
The search for treatments for inclusion body myositis.
de Visser M, De Bleecker J. de Visser M, et al. Lancet Neurol. 2023 Oct;22(10):873-874. doi: 10.1016/S1474-4422(23)00327-7. Lancet Neurol. 2023. PMID: 37739563 No abstract available.
Effect of efgartigimod on muscle group subdomains in participants with generalized myasthenia gravis: post hoc analyses of the phase 3 pivotal ADAPT study.
Bril V, Howard JF Jr, Karam C, De Bleecker JL, Murai H, Utsugisawa K, Ulrichts P, Brauer E, Zhao S, Mantegazza R, Vu T; ADAPT Study Group. Bril V, et al. Among authors: de bleecker jl. Eur J Neurol. 2024 Jan;31(1):e16098. doi: 10.1111/ene.16098. Epub 2023 Oct 16. Eur J Neurol. 2024. PMID: 37843174 Free PMC article.
Meta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.
Zhu C, Han Y, Byun J, Xiao X, Rothwell S, Miller FW, Lundberg IE, Gregersen PK, Vencovsky J, Shaw VR, McHugh N, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Molberg Ø, Benveniste O, Radstake T, Doria A, De Bleecker JL, De Paepe B, Maurer B, Ollier WE, Padyukov L, Wedderburn LR, Chinoy H, Lamb JA, Amos CI; Myositis Genetics Consortium (MYOGEN). Zhu C, et al. Among authors: de bleecker jl. Arthritis Rheumatol. 2024 Dec 16. doi: 10.1002/art.43088. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 39679859
Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis.
Notarnicola A, Hellstrom C, Horuluoglu B, Pin E, Preger C, Bonomi F, De Paepe B, De Bleecker JL, Van der Kooi AJ, De Visser M, Sacconi S, Machado P, Badrising UA, Rietveld A, Pruijn G, Rothwell S, Lilleker JB, Chinoy H, Benveniste O, Svenungsson E, Idborg H, Jakobsson PJ, Nilsson P, Lundberg IE. Notarnicola A, et al. Among authors: de bleecker jl. J Autoimmun. 2024 Dec;149:103332. doi: 10.1016/j.jaut.2024.103332. Epub 2024 Nov 18. J Autoimmun. 2024. PMID: 39561568
Subcutaneous efgartigimod PH20 in generalized myasthenia gravis: A phase 3 randomized noninferiority study (ADAPT-SC) and interim analyses of a long-term open-label extension study (ADAPT-SC+).
Howard JF Jr, Vu T, Li G, Korobko D, Smilowski M, Liu L, Gistelinck F, Steeland S, Noukens J, Van Hoorick B, Podhorna J, Borgions F, Li Y, Utsugisawa K, Wiendl H, De Bleecker JL, Mantegazza R; ADAPT-SC and ADAPT-SC+ Study Groups. Howard JF Jr, et al. Among authors: de bleecker jl. Neurotherapeutics. 2024 Sep;21(5):e00378. doi: 10.1016/j.neurot.2024.e00378. Epub 2024 Sep 2. Neurotherapeutics. 2024. PMID: 39227284 Free PMC article. Clinical Trial.
Recommendations for the management of myasthenia gravis in Belgium.
De Bleecker JL, Remiche G, Alonso-Jiménez A, Van Parys V, Bissay V, Delstanche S, Claeys KG. De Bleecker JL, et al. Acta Neurol Belg. 2024 Aug;124(4):1371-1383. doi: 10.1007/s13760-024-02552-7. Epub 2024 Apr 22. Acta Neurol Belg. 2024. PMID: 38649556 Free PMC article. Review.
136 results