Similar articles for PMID: 31448844

Year	Number of Results
2002	1
2006	1
2009	1
2010	2
2011	2
2013	4
2014	7
2015	8
2016	12
2017	21
2018	21
2019	19
2020	12
2021	15
2022	10
2023	5
2024	0

1

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. Morin G, et al. Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31448844 Review.

2

[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.

3

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

Böhm J, Laporte J. Böhm J, et al. Cell Calcium. 2018 Dec;76:1-9. doi: 10.1016/j.ceca.2018.07.008. Epub 2018 Sep 3. Cell Calcium. 2018. PMID: 30243034 Review.

4

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

5

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

6

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, Böhm J. Silva-Rojas R, et al. Hum Mol Genet. 2019 May 15;28(10):1579-1593. doi: 10.1093/hmg/ddy446. Hum Mol Genet. 2019. PMID: 30576443

7

Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

Silva-Rojas R, Pérez-Guàrdia L, Lafabrie E, Moulaert D, Laporte J, Böhm J. Silva-Rojas R, et al. Int J Mol Sci. 2022 Jun 23;23(13):6968. doi: 10.3390/ijms23136968. Int J Mol Sci. 2022. PMID: 35805973 Free PMC article.

8

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Nesin V, et al. Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3. Proc Natl Acad Sci U S A. 2014. PMID: 24591628 Free PMC article.

9

CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.

Feske S. Feske S. Cell Calcium. 2019 Jun;80:112-116. doi: 10.1016/j.ceca.2019.03.004. Epub 2019 Mar 11. Cell Calcium. 2019. PMID: 31009822 Free PMC article. Review.

10

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. 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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