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Author

V. Kimonis

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Case report Open access Sep 2026

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness. The radiologic manif...

Narinder Singh, Arpita Neogi, Liliane H. Gibbs et al. · 0 citations
Open access Aug 2026

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy-modulating therapy

These findings support the value of preclinical models for translational studies, and autophagy enhancement as a potential therapeutic strategy for HSPB8-related myopathy, and evaluated trehalose, a natural disaccharide that induces HSPB8 and enhances autophagy.

Alyaa Shmara, Lan Weiss, A. Gromova et al. · 0 citations

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