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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
J Med Genet. 2014 Dec;51(12):824-33. doi: 10.1136/jmedgenet-2014-102623. Epub 2014 Oct 17.
J Med Genet. 2014.
PMID: 25326555
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.
Noury JB, Böhm J, Peche GA, Guyant-Marechal L, Bedat-Millet AL, Chiche L, Carlier RY, Malfatti E, Romero NB, Stojkovic T.
Noury JB, et al. Among authors: peche ga.
Neuromuscul Disord. 2017 Jan;27(1):78-82. doi: 10.1016/j.nmd.2016.10.006. Epub 2016 Oct 14.
Neuromuscul Disord. 2017.
PMID: 27876257
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Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.
Peche GA, Spiegelhalter C, Silva-Rojas R, Laporte J, Böhm J.
Peche GA, et al.
Neuropathology. 2020 Dec;40(6):559-569. doi: 10.1111/neup.12692. Epub 2020 Oct 19.
Neuropathology. 2020.
PMID: 33073872
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Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide.
Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L.
Georges P, et al. Among authors: peche ga.
Sci Rep. 2019 Oct 10;9(1):14568. doi: 10.1038/s41598-019-49870-y.
Sci Rep. 2019.
PMID: 31601825
Free PMC article.
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