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Search: authors:"Simo Ojanen"

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Elastic, Viscoelastic and Fibril-Reinforced Poroelastic Material Properties of Healthy and Osteoarthritic Human Tibial Cartilage

Articular cartilage constituents (collagen, proteoglycans, fluid) are significantly altered during osteoarthritis (OA). A fibril-reinforced poroelastic (FRPE) material model can separate the contribution of each constituent on the mechanical response of cartilage. Yet, these properties and their OA related alterations are not known for human tibial cartilage. To answer this gap...

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.MethodsWhole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical...