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Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.
Neuropathology. 2020 Dec;40(6):559-569. doi: 10.1111/neup.12692. Epub 2020 Oct 19.
Neuropathology. 2020.
PMID: 33073872
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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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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Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Böhm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Pénisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J.
Böhm J, et al. Among authors: peche ga.
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
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