Bachmann C - Search Results

1

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S. Bachmann C, et al. Hum Mol Genet. 2017 Jan 15;26(2):320-332. doi: 10.1093/hmg/ddw388. Hum Mol Genet. 2017. PMID: 28007904

2

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. Bachmann C, et al. Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1. Hum Mutat. 2019. PMID: 30932294 Free PMC article.

3

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Elbaz M, Ruiz A, Bachmann C, Eckhardt J, Pelczar P, Venturi E, Lindsay C, Wilson AD, Alhussni A, Humberstone T, Pietrangelo L, Boncompagni S, Sitsapesan R, Treves S, Zorzato F. Elbaz M, et al. Among authors: bachmann c. Hum Mol Genet. 2019 Sep 15;28(18):2987-2999. doi: 10.1093/hmg/ddz092. Hum Mol Genet. 2019. PMID: 31044239

4

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, Treves S. Eckhardt J, et al. Among authors: bachmann c. Hum Mol Genet. 2020 May 28;29(8):1330-1339. doi: 10.1093/hmg/ddaa056. Hum Mol Genet. 2020. PMID: 32242214

5

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: bachmann c. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660

6

Extraocular muscle function is impaired in ryr3 ^-/- mice.

Eckhardt J, Bachmann C, Sekulic-Jablanovic M, Enzmann V, Park KH, Ma J, Takeshima H, Zorzato F, Treves S. Eckhardt J, et al. Among authors: bachmann c. J Gen Physiol. 2019 Jul 1;151(7):929-943. doi: 10.1085/jgp.201912333. Epub 2019 May 13. J Gen Physiol. 2019. PMID: 31085573 Free PMC article.

7

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S, Zorzato F. Elbaz M, et al. Among authors: bachmann c. J Biol Chem. 2020 Jul 24;295(30):10331-10339. doi: 10.1074/jbc.RA120.013846. Epub 2020 Jun 4. J Biol Chem. 2020. PMID: 32499372 Free PMC article.

8

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.

Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, Pietrangelo L, Protasi F, Treves S, Zorzato F. Ruiz A, et al. Among authors: bachmann c. Elife. 2022 Mar 3;11:e73718. doi: 10.7554/eLife.73718. Elife. 2022. PMID: 35238775 Free PMC article.

9

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.

Bachmann C, Franchini M, Van den Bersselaar LR, Kruijt N, Voermans NC, Bouman K, Kamsteeg EJ, Knop KC, Ruggiero L, Santoro L, Nevo Y, Wilmshurst J, Vissing J, Sinnreich M, Zorzato D, Muntoni F, Jungbluth H, Zorzato F, Treves S. Bachmann C, et al. Brain Commun. 2022 Sep 2;4(5):fcac224. doi: 10.1093/braincomms/fcac224. eCollection 2022. Brain Commun. 2022. PMID: 36196089 Free PMC article.

10

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Ruiz A, Dror E, Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S, Zorzato F. Ruiz A, et al. Among authors: bachmann c. Sci Rep. 2018 Jan 12;8(1):636. doi: 10.1038/s41598-017-18844-3. Sci Rep. 2018. PMID: 29330505 Free PMC article.

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