Koch C - Search Results

1

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.

Prokic I, Cowling BS, Kutchukian C, Kretz C, Tasfaout H, Gache V, Hergueux J, Wendling O, Ferry A, Toussaint A, Gavriilidis C, Nattarayan V, Koch C, Lainé J, Combe R, Tiret L, Jacquemond V, Pilot-Storck F, Laporte J. Prokic I, et al. Among authors: koch c. Dis Model Mech. 2020 Nov 24;13(11):dmm044354. doi: 10.1242/dmm.044354. Dis Model Mech. 2020. PMID: 32994313 Free PMC article.

2

[No title available]

[No authors listed] [No authors listed] PMID: 34005043

3

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy.

Buono S, Monseur A, Menuet A, Robé A, Koch C, Laporte J, Thielemans L, Depla M, Cowling BS. Buono S, et al. Among authors: koch c. Dis Model Mech. 2022 Jul 1;15(7):dmm049284. doi: 10.1242/dmm.049284. Epub 2022 Jul 25. Dis Model Mech. 2022. PMID: 35642830 Free PMC article.

4

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.

D'Alessandro M, Hnia K, Gache V, Koch C, Gavriilidis C, Rodriguez D, Nicot AS, Romero NB, Schwab Y, Gomes E, Labouesse M, Laporte J. D'Alessandro M, et al. Among authors: koch c. Dev Cell. 2015 Oct 26;35(2):186-98. doi: 10.1016/j.devcel.2015.09.018. Dev Cell. 2015. PMID: 26506308 Free article.

5

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Kouwenberg C, Bohm J, Erasmus C, van Balken I, Vos S, Kusters B, Kamsteeg EJ, Biancalana V, Koch C, Dondaine N, Laporte J, Voermans N. Kouwenberg C, et al. Among authors: koch c. J Neuromuscul Dis. 2017;4(4):349-355. doi: 10.3233/JND-170238. J Neuromuscul Dis. 2017. PMID: 29103045

6

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Böhm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J. Koutsopoulos OS, et al. Among authors: koch m, koch c. Eur J Hum Genet. 2013 Jun;21(6):637-42. doi: 10.1038/ejhg.2012.226. Epub 2012 Oct 24. Eur J Hum Genet. 2013. PMID: 23092955 Free PMC article.

7

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

Garibaldi M, Böhm J, Fattori F, Koch C, Surace C, Ottaviani P, Laschena F, Laporte J, Bertini E, Antonini G, Romero NB. Garibaldi M, et al. Among authors: koch c. J Neuromuscul Dis. 2016 Mar 3;3(1):111-114. doi: 10.3233/JND-150125. J Neuromuscul Dis. 2016. PMID: 27854204

8

Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.

Koch C, Buono S, Menuet A, Robé A, Djeddi S, Kretz C, Gomez-Oca R, Depla M, Monseur A, Thielemans L, Servais L; NatHis-CNM Study Group; Laporte J, Cowling BS. Koch C, et al. Mol Ther Methods Clin Dev. 2020 May 4;17:1178-1189. doi: 10.1016/j.omtm.2020.04.022. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32514412 Free PMC article.

9

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: koch c. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562

10

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J. Koutsopoulos OS, et al. Among authors: koch c. PLoS One. 2011;6(11):e27498. doi: 10.1371/journal.pone.0027498. Epub 2011 Nov 11. PLoS One. 2011. PMID: 22096584 Free PMC article.

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