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[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J, Laporte J. Böhm J, et al. Med Sci (Paris). 2018 Nov;34 Hors série n°2:26-31. doi: 10.1051/medsci/201834s208. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418142 Free article. French.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.
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. 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
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J. Böhm J, et al. Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28058752
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, Saker S, Deleuze JF, Wuyam B, Laporte J, Böhm J. Lornage X, et al. Among authors: bohm j. Neurogenetics. 2021 Mar;22(1):33-41. doi: 10.1007/s10048-020-00632-3. Epub 2021 Jan 6. Neurogenetics. 2021. PMID: 33405017
585 results