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Page 1
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, Delague V, Bernard-Marissal N. El-Bazzal L, et al. Among authors: roeckel trevisiol n. Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402. Brain. 2023. PMID: 36314052 Free PMC article.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. Jobling RK, et al. Among authors: roeckel trevisiol n. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. Brain. 2015. PMID: 25808372 Free PMC article.
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
Mégarbané A, Hana S, Mégarbané H, Castro C, Baulande S, Criqui A, Roëckel-Trevisiol N, Dagher C, Al-Ali MT, Desvignes JP, Mahfoud D, El-Hayek S, Delague V. Mégarbané A, et al. Among authors: roeckel trevisiol n. Mol Syndromol. 2021 Oct;12(6):342-350. doi: 10.1159/000517253. Epub 2021 Aug 31. Mol Syndromol. 2021. PMID: 34899143 Free PMC article.
Nuclear localization of a novel human syntaxin 1B isoform.
Pereira S, Massacrier A, Roll P, Vérine A, Etienne-Grimaldi MC, Poitelon Y, Robaglia-Schlupp A, Jamali S, Roeckel-Trevisiol N, Royer B, Pontarotti P, Lévêque C, Seagar M, Lévy N, Cau P, Szepetowski P. Pereira S, et al. Among authors: roeckel trevisiol n. Gene. 2008 Nov 1;423(2):160-71. doi: 10.1016/j.gene.2008.07.010. Epub 2008 Jul 17. Gene. 2008. PMID: 18691641
Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.
Jamali S, Bartolomei F, Robaglia-Schlupp A, Massacrier A, Peragut JC, Régis J, Dufour H, Ravid R, Roll P, Pereira S, Royer B, Roeckel-Trevisiol N, Fontaine M, Guye M, Boucraut J, Chauvel P, Cau P, Szepetowski P. Jamali S, et al. Among authors: roeckel trevisiol n. Brain. 2006 Mar;129(Pt 3):625-41. doi: 10.1093/brain/awl001. Epub 2006 Jan 6. Brain. 2006. PMID: 16399808
SRPX2 mutations in disorders of language cortex and cognition.
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. Roll P, et al. Among authors: roeckel trevisiol n. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497722
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.
Jamali S, Salzmann A, Perroud N, Ponsole-Lenfant M, Cillario J, Roll P, Roeckel-Trevisiol N, Crespel A, Balzar J, Schlachter K, Gruber-Sedlmayr U, Pataraia E, Baumgartner C, Zimprich A, Zimprich F, Malafosse A, Szepetowski P. Jamali S, et al. Among authors: roeckel trevisiol n. PLoS One. 2010 Sep 16;5(9):e12740. doi: 10.1371/journal.pone.0012740. PLoS One. 2010. PMID: 20862287 Free PMC article.