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British Journal of Pharmacology|June 13, 2009
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic miceT Tiepolo, A Angelin, E Palma, et al.FEBS Letters|February 26, 1996
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12D Jung, F Leturcq, Y Sunada, et al.Human Molecular Genetics|March 21, 1998
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophyL Cartegni, M R di Barletta, R Barresi, et al.Matrix Biology : Journal of the International Society for Matrix Biology|November 3, 2001
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblastsP Sabatelli, P Bonaldo, G Lattanzi, et al.Biochimica Et Biophysica Acta|June 8, 2014
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathiesF Tagliavini, C Pellegrini, F Sardone, et al.Cancer Research|October 5, 2001
Potent antitumor activity and improved pharmacological profile of ST1481, a novel 7-substituted camptothecinM De Cesare, G Pratesi, P Perego, et al.Human Mutation|August 19, 2006
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type IIA L E Montalvo, B Bembi, M Donnarumma, et al.Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.Neurology|June 11, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patientsJ S Müller, G Mildner, W Müller-Felber, et al.Annals of Neurology|August 1, 1997
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sampleM Mora, L Cartegni, C Di Blasi, et al.Pageof 18