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Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C. Sancho P, et al. Among authors: lassuthova p. Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006. Hum Mol Genet. 2019. PMID: 30624633
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P. Laššuthová P, et al. Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1. Clin Genet. 2011. PMID: 21291453
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Among authors: lassuthova p. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.
62 results