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Quoted phrase not found in phrase index: "Bethlem myopathy 2"
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Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies.
Bernardi P, Bonaldo P. Bernardi P, et al. Ann N Y Acad Sci. 2008 Dec;1147:303-11. doi: 10.1196/annals.1427.009. Ann N Y Acad Sci. 2008. PMID: 19076452 Review.
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen VI. ...These studies suggest that PTP opening may represent the final common pathway for skele …
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in the genes encod …
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Natera-de Benito D, et al. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455 Free PMC article.
The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing demonstrated reliability in distinguishing between 3 COL6-RD phenotypic subgroups: (1) Ullrich congenital muscular dystrophy, (2) int …
The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing …
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.
Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, Finetti F, Braghetta P, Vuagniaux G, Dumont JM, Baldari CT, Bonaldo P, Bernardi P. Tiepolo T, et al. Br J Pharmacol. 2009 Jul;157(6):1045-52. doi: 10.1111/j.1476-5381.2009.00316.x. Epub 2009 Jun 10. Br J Pharmacol. 2009. PMID: 19519726 Free PMC article.
EXPERIMENTAL APPROACH: We studied calcineurin activity based on NFAT translocation; T cell activation based on expression of CD69 and CD25; propensity to open the permeability transition pore in mitochondria and skeletal muscle fibres based on the ability to retain Ca(2+) …
EXPERIMENTAL APPROACH: We studied calcineurin activity based on NFAT translocation; T cell activation based on expression of CD69 and CD25; …