Böhm J - Search Results

1

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

2

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Echaniz-Laguna A, Lornage X, Lannes B, Schneider R, Bierry G, Dondaine N, Boland A, Deleuze JF, Böhm J, Thompson J, Laporte J, Biancalana V. Echaniz-Laguna A, et al. Among authors: bohm j. Acta Neuropathol. 2017 Jul;134(1):163-165. doi: 10.1007/s00401-017-1724-8. Epub 2017 May 13. Acta Neuropathol. 2017. PMID: 28501893 No abstract available.

3

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Böhm J, Biancalana V, Laporte J. Lornage X, et al. Among authors: bohm j. J Neuromuscul Dis. 2018;5(2):257-260. doi: 10.3233/JND-170265. J Neuromuscul Dis. 2018. PMID: 29614691

4

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.

5

[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.

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. Among authors: bohm j. 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. Among authors: bohm j. 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

Asymmetric muscle weakness due to ACTA1 mosaic mutations.

Lornage X, Quijano-Roy S, Amthor H, Carlier RY, Monnier N, Deleuze JF, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: bohm j. Neurology. 2020 Dec 15;95(24):e3406-e3411. doi: 10.1212/WNL.0000000000010947. Epub 2020 Sep 28. Neurology. 2020. PMID: 32989108

9

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Silva-Rojas R, Laporte J, Böhm J. Silva-Rojas R, et al. Among authors: bohm j. Front Physiol. 2020 Nov 4;11:604941. doi: 10.3389/fphys.2020.604941. eCollection 2020. Front Physiol. 2020. PMID: 33250786 Free PMC article. Review.

10

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.

Silva-Rojas R, Charles AL, Djeddi S, Geny B, Laporte J, Böhm J. Silva-Rojas R, et al. Among authors: bohm j. Cells. 2021 Jul 8;10(7):1730. doi: 10.3390/cells10071730. Cells. 2021. PMID: 34359900 Free PMC article.

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