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Science Translational Medicine|June 24, 2026
Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6Ricardo A Galli, Leander A Vonk, Rianne J Baelde, et al.Journal of Neurology|June 9, 2005
Inclusion body myositis. Clinical features and clinical course of the disease in 64 patientsUmesh A Badrising, Marion L C Maat-Schieman, Johannes C van Houwelingen, et al.European Journal of Neurology|August 22, 2024
Trajectories of behavior and social cognition in behavioral variant frontotemporal dementia and primary psychiatric disorders: A call for better operationalization of socioemotional changesJay L P Fieldhouse, Marie-Paule E van Engelen, Dédé Handgraaf, et al.Frontiers in Immunology|June 21, 2018
Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus ErythematosusAnke Rietveld, Luuk L van den Hoogen, Nicola Bizzaro, et al.Annals of the Rheumatic Diseases|February 26, 2015
Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseasesMegan K Herbert, Judith Stammen-Vogelzangs, Marcel M Verbeek, et al.European Journal of Neurology|May 9, 2023
Decreased emotion recognition and reduced focus on facial hallmarks in behavioral variant frontotemporal dementia compared to primary psychiatric disorders and controlsJay L P Fieldhouse, Ellen H Singleton, Marie-Paule E van Engelen, et al.Acta Neuropathologica|October 5, 2022
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophyFanny Roth, Jamila Dhiab, Alexis Boulinguiez, et al.Journal of Neuromuscular Diseases|October 9, 2023
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial ReadinessKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.European Journal of Neurology|July 23, 2020
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imagingG Giacomucci, M Monforte, J Diaz-Manera, et al.Neurology. Genetics|July 21, 2023
LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional StudyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.Pageof 84