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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: mora m. 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. Among authors: mora m. Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28058752
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E, Bertini E, D'Amico A. Catteruccia M, et al. Among authors: mora m. Neuromuscul Disord. 2013 Mar;23(3):229-38. doi: 10.1016/j.nmd.2012.12.009. Epub 2013 Feb 8. Neuromuscul Disord. 2013. PMID: 23394783 Free PMC article.
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Fattori F, et al. Among authors: mora m. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10. J Neurol. 2015. PMID: 25957634
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, Bulla M, Granger F, Bui MT, Sartori M, Schneider-Gold C, Malfatti E, Romero NB, Mora M, Laporte J. Böhm J, et al. Among authors: mora m. Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16. Acta Neuropathol. 2018. PMID: 29039140 No abstract available.
1,307 results