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Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Bernard-Marissal N, Médard JJ, Azzedine H, Chrast R. Bernard-Marissal N, et al. Among authors: medard jj. Brain. 2015 Nov;138(Pt 11):e394. doi: 10.1093/brain/awv174. Epub 2015 Jun 18. Brain. 2015. PMID: 26088963 No abstract available.
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: medard jj. 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.
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA. Schiza N, et al. Among authors: medard jj. Brain. 2019 May 1;142(5):1227-1241. doi: 10.1093/brain/awz064. Brain. 2019. PMID: 30907403 Free PMC article.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: medard jj. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
Sox4 participates in the modulation of Schwann cell myelination.
Bartesaghi L, Arnaud Gouttenoire E, Prunotto A, Médard JJ, Bergmann S, Chrast R. Bartesaghi L, et al. Among authors: medard jj. Eur J Neurosci. 2015 Jul;42(2):1788-96. doi: 10.1111/ejn.12929. Epub 2015 May 19. Eur J Neurosci. 2015. PMID: 25899854
Phosphatidic acid mediates demyelination in Lpin1 mutant mice.
Nadra K, de Preux Charles AS, Médard JJ, Hendriks WT, Han GS, Grès S, Carman GM, Saulnier-Blache JS, Verheijen MH, Chrast R. Nadra K, et al. Among authors: medard jj. Genes Dev. 2008 Jun 15;22(12):1647-61. doi: 10.1101/gad.1638008. Genes Dev. 2008. PMID: 18559480 Free PMC article.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R. Arnaud E, et al. Among authors: medard jj. Proc Natl Acad Sci U S A. 2009 Oct 13;106(41):17528-33. doi: 10.1073/pnas.0905523106. Epub 2009 Sep 29. Proc Natl Acad Sci U S A. 2009. PMID: 19805030 Free PMC article.
32 results