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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A.
Baghdiguian S, Martin M, Richard I, Pons F, Astier C, Bourg N, Hay RT, Chemaly R, Halaby G, Loiselet J, Anderson LV, Lopez de Munain A, Fardeau M, Mangeat P, Beckmann JS, Lefranc G. Baghdiguian S, et al. Among authors: pons f. Nat Med. 1999 May;5(5):503-11. doi: 10.1038/8385. Nat Med. 1999. PMID: 10229226 No abstract available.
Congenital muscular dystrophy and cerebellar atrophy.
Echenne B, Rivier F, Tardieu M, Brive M, Robert A, Pages AM, Pons F, Mornet D. Echenne B, et al. Among authors: pons f. Neurology. 1998 May;50(5):1477-80. doi: 10.1212/wnl.50.5.1477. Neurology. 1998. PMID: 9596013
569 results