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Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N, van Hameren G, Juneja M, Pellegrino C, Louhivuori L, Bartesaghi L, Rochat C, El Mansour O, Médard JJ, Croisier M, Maclachlan C, Poirot O, Uhlén P, Timmerman V, Tricaud N, Schneider BL, Chrast R. Bernard-Marissal N, et al. Among authors: chrast r. Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2328-2337. doi: 10.1073/pnas.1810932116. Epub 2019 Jan 18. Proc Natl Acad Sci U S A. 2019. PMID: 30659145 Free PMC article.
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Bernard-Marissal N, Médard JJ, Azzedine H, Chrast R. Bernard-Marissal N, et al. Among authors: chrast r. Brain. 2015 Nov;138(Pt 11):e394. doi: 10.1093/brain/awv174. Epub 2015 Jun 18. Brain. 2015. PMID: 26088963 No abstract available.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. Juneja M, et al. Among authors: chrast r. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15. J Neurol Neurosurg Psychiatry. 2018. PMID: 29449460
Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells.
Deck M, Van Hameren G, Campbell G, Bernard-Marissal N, Devaux J, Berthelot J, Lattard A, Médard JJ, Gautier B, Guelfi S, Abbou S, Quintana P, Chao de la Barca JM, Reynier P, Lenaers G, Chrast R, Tricaud N. Deck M, et al. Among authors: chrast r. PLoS One. 2022 Oct 4;17(10):e0272097. doi: 10.1371/journal.pone.0272097. eCollection 2022. PLoS One. 2022. PMID: 36194565 Free PMC article.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R. Azzedine H, et al. Among authors: chrast r. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17. Hum Mol Genet. 2013. PMID: 23777631 Free PMC article.
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Gouttenoire EA, et al. Among authors: chrast r. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667
Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy.
Rashid T, Nemazanyy I, Paolini C, Tatsuta T, Crespin P, de Villeneuve D, Brodesser S, Benit P, Rustin P, Baraibar MA, Agbulut O, Olivier A, Protasi F, Langer T, Chrast R, de Lonlay P, de Foucauld H, Blaauw B, Pende M. Rashid T, et al. Among authors: chrast r. EMBO J. 2019 Jan 3;38(1):e99576. doi: 10.15252/embj.201899576. Epub 2018 Nov 12. EMBO J. 2019. PMID: 30420558 Free PMC article.
85 results