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Arthritis Care & Research|May 5, 2012
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndromeLies Rombaut, Fransiska Malfait, Inge De Wandele, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 13, 2024
Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta: a cross-sectional studyMarie Coussens, Bruno Lapauw, Inge De Wandele, et al.Human Mutation|October 31, 2008
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndromeSofie Symoens, Fransiska Malfait, Marjolijn Renard, et al.JIMD Reports|September 14, 2022
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndromeMahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, et al.Scientific Reports|January 6, 2026
A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescueOsama Essawi, Tamara Jarayseh, Piyanoot Tapaneeyaphan, et al.Arthritis Care & Research|December 4, 2020
Altered Multisegment Ankle and Foot Kinematics During Gait in Patients With Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder: A Case-Control StudyStefan Vermeulen, Sophie De Mits, Roel De Ridder, et al.Human Mutation|August 23, 2014
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structureSofie Symoens, David J S Hulmes, Jean-Marie Bourhis, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 14, 2022
Bone Mass, Density, Geometry, and Stress-Strain Index in Adults With Osteogenesis Imperfecta Type I and Their Associations With Physical Activity and Muscle Function ParametersMarie Coussens, Bruno Lapauw, Charlotte Verroken, et al.Journal of Musculoskeletal & Neuronal Interactions|March 2, 2022
Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum DisorderMarie Coussens, Bruno Lapauw, Thiberiu Banica, et al.American Journal of Medical Genetics. Part A|March 7, 2017
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndromeSofie Symoens, Wouter Steyaert, Lynn Demuynck, et al.Pageof 15