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Page 1
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S. van der Zee J, et al. Among authors: bleecker j. Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19. Hum Mutat. 2017. PMID: 28008748 Free PMC article.
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V. Giugliano T, et al. Among authors: bleecker j. Genes (Basel). 2018 Oct 26;9(11):524. doi: 10.3390/genes9110524. Genes (Basel). 2018. PMID: 30373198 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.
Discovery of new myositis genetic associations through leveraging other immune-mediated diseases.
Reales G, Amos CI, Benveniste O, Chinoy H, De Bleecker J, De Paepe B, Doria A, Gregersen PK, Lamb JA, Limaye V, Lundberg IE, Machado PM, Maurer B, Miller FW, Molberg Ø, Pachman LM, Padyukov L, Radstake TR, Reed AM, Rider LG, Rothwell S, Selva-O'Callaghan A, Vencovský J, Wedderburn LR; Myositis Genetics Consortium; Wallace C. Reales G, et al. Among authors: de bleecker j. HGG Adv. 2024 Oct 10;5(4):100336. doi: 10.1016/j.xhgg.2024.100336. Epub 2024 Jul 22. HGG Adv. 2024. PMID: 39044428 Free PMC article.
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Smeets N, Gheldof A, Dequeker B, Poleur M, Maldonado Slootjes S, Van Parijs V, Deconinck N, Dontaine P, Alonso-Jimenez A, De Bleecker J, De Ridder W, Herdewyn S, Paquay S, Vanlander A, De Waele L, Peirens G, Beysen D, Claeys KG, Dubuisson N, Hansen I, Remiche G, Seneca S, Bissay V, Régal L. Smeets N, et al. Among authors: de bleecker j. Pediatr Neurol. 2024 Sep;158:57-65. doi: 10.1016/j.pediatrneurol.2024.06.002. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38964204
Efficacy, safety and tolerability of rozanolixizumab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a randomised, subject-blind, investigator-blind, placebo-controlled, phase 2a trial and open-label extension study.
Querol L, De Sèze J, Dysgaard T, Levine T, Rao TH, Rivner M, Hartung HP, Kiessling P, Shimizu S, Marmol D, Bozorg A, Colson AO, Massow U, Eftimov F; CIDP01 Study Investigators. Querol L, et al. J Neurol Neurosurg Psychiatry. 2024 Aug 16;95(9):845-854. doi: 10.1136/jnnp-2023-333112. J Neurol Neurosurg Psychiatry. 2024. PMID: 38729747 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.
250 results