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194 results

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The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Ceprian M, Juntas-Morales R, Campbell G, Walther-Louvier U, Rivier F, Camu W, Esselin F, Echaniz-Laguna A, Stojkovic T, Bouhour F, Latour P, Tricaud N. Ceprian M, et al. Among authors: rivier f. Int J Mol Sci. 2024 Apr 15;25(8):4364. doi: 10.3390/ijms25084364. Int J Mol Sci. 2024. PMID: 38673950 Free PMC article.
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
Colmard M, Rivier F, de Barry G, Roubertie A, Urtiaga-Valle S, Mercedes-Alvarez B, Combes C, Cambonie G, Milesi C, Meyer P. Colmard M, et al. Among authors: rivier f. Dev Med Child Neurol. 2024 Jan 23. doi: 10.1111/dmcn.15859. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38263722
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.
Souidi M, Resta J, Dridi H, Sleiman Y, Reiken S, Formoso K, Colombani S, Amédro P, Meyer P, Charrabi A, Vincenti M, Liu Y, Soni RK, Lezoualc'h F, Stéphane Blot DVM, Rivier F, Cazorla O, Parini A, Marks AR, Mialet-Perez J, Lacampagne A, Meli AC. Souidi M, et al. Among authors: rivier f. J Cachexia Sarcopenia Muscle. 2024 Apr;15(2):536-551. doi: 10.1002/jcsm.13411. Epub 2024 Jan 14. J Cachexia Sarcopenia Muscle. 2024. PMID: 38221511 Free PMC article.
Long-term outcomes of paediatric Guillain-Barré syndrome.
Estublier B, Colineaux H, Arnaud C, Cintas P, Baudou E, Chaix Y, Rivier F, Biotteau M, Meyer P, Cheuret E. Estublier B, et al. Among authors: rivier f. Dev Med Child Neurol. 2024 Feb;66(2):176-186. doi: 10.1111/dmcn.15693. Epub 2023 Jul 27. Dev Med Child Neurol. 2024. PMID: 37501281
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: rivier f. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: rivier f. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. Coste T, et al. Among authors: rivier f. Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. doi: 10.1002/uog.26046. Ultrasound Obstet Gynecol. 2022. PMID: 35943828 Free PMC article.
194 results