Sweat retention anhidrosis associated with tubular aggregate myopathy.
Ishitsuka Y, Inoue S, Furuta J, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Fukushima H, Suzuki H, Nishino I, Kosaki K, Fujimoto M.
Br J Dermatol. 2019 Nov;181(5):1104-1106. doi: 10.1111/bjd.18175. Epub 2019 Aug 21.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V.
Eur J Neurosci. 2022 Aug;56(3):4214-4223. doi: 10.1111/ejn.15728. Epub 2022 Jun 13.
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
Tasca G, D'Amico A, Monforte M, Nadaj-Pakleza A, Vialle M, Fattori F, Vissing J, Ricci E, Bertini E.
Neuromuscul Disord. 2015 Nov;25(11):898-903. doi: 10.1016/j.nmd.2015.07.008. Epub 2015 Jul 17.
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM, Noguchi S.
Int J Mol Sci. 2016 Nov 22;17(11):1952. doi: 10.3390/ijms17111952.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J.
Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15.
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E.
J Neurol. 2014 May;261(5):870-6. doi: 10.1007/s00415-014-7287-x. Epub 2014 Feb 26.
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.
Neuromuscul Disord. 2017 Jan;27(1):78-82. doi: 10.1016/j.nmd.2016.10.006. Epub 2016 Oct 14.
Store-operated calcium entry: From physiology to tubular aggregate myopathy.
Protasi F, Girolami B, Roccabianca S, Rossi D.
Curr Opin Pharmacol. 2023 Feb;68:102347. doi: 10.1016/j.coph.2022.102347. Epub 2023 Jan 4.
Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1.
Derler I, Romanin C.
Cell Calcium. 2023 Jun;112:102739. doi: 10.1016/j.ceca.2023.102739. Epub 2023 Apr 7.
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.
Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.
