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Page 1
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Severa G, Pennisi A, Barnerias C, Fiorillo C, Scala M, Taglietti V, Cojocaru AI, Jouni D, Tosca L, Tachdjian G, Desguerre I, Authier FJ, Carlier RY, Metay C, Verebi C, Malfatti E. Severa G, et al. Among authors: barnerias c. Neuromuscul Disord. 2023 Oct;33(10):817-821. doi: 10.1016/j.nmd.2023.08.011. Epub 2023 Aug 25. Neuromuscul Disord. 2023. PMID: 37743183
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: barnerias c. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE. Dupré T, et al. Among authors: barnerias c. J Med Genet. 2010 Nov;47(11):729-35. doi: 10.1136/jmg.2009.072504. Epub 2010 Aug 2. J Med Genet. 2010. PMID: 20679665 Free article.
MFN2, a new gene responsible for mitochondrial DNA depletion.
Renaldo F, Amati-Bonneau P, Slama A, Romana C, Forin V, Doummar D, Barnerias C, Bursztyn J, Mayer M, Khouri N, Billette de Villemeur T, Burglen L, Reynier P, Bernabe Gelot A, Rodriguez D. Renaldo F, et al. Among authors: barnerias c. Brain. 2012 Aug;135(Pt 8):e223, 1-4; author reply e224, 1-3. doi: 10.1093/brain/aws111. Epub 2012 May 3. Brain. 2012. PMID: 22556188 No abstract available.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: barnerias c. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
Passemard S, Gelot A, Fogli A, N'Guyen S, Barnerias C, Niel F, Doummar D, Arbues AS, Mignot C, de Villemeur TB, Ponsot G, Boespflug-Tanguy O, Rodriguez D. Passemard S, et al. Among authors: barnerias c. Neurology. 2007 Jul 24;69(4):400-2. doi: 10.1212/01.wnl.0000266388.02772.f8. Neurology. 2007. PMID: 17646634 No abstract available.
Safety and efficacy of rituximab in severe juvenile dermatomyositis: results from 9 patients from the French Autoimmunity and Rituximab registry.
Bader-Meunier B, Decaluwe H, Barnerias C, Gherardi R, Quartier P, Faye A, Guigonis V, Pagnier A, Brochard K, Sibilia J, Gottenberg JE, Bodemer C; Club Rhumatismes et Inflammation. Bader-Meunier B, et al. Among authors: barnerias c. J Rheumatol. 2011 Jul;38(7):1436-40. doi: 10.3899/jrheum.101321. Epub 2011 Jun 15. J Rheumatol. 2011. PMID: 21677003
Peripheral neuropathy and inborn errors of metabolism in adults.
Sedel F, Barnerias C, Dubourg O, Desguerres I, Lyon-Caen O, Saudubray JM. Sedel F, et al. Among authors: barnerias c. J Inherit Metab Dis. 2007 Oct;30(5):642-53. doi: 10.1007/s10545-007-0684-x. Epub 2007 Sep 21. J Inherit Metab Dis. 2007. PMID: 17879144 Review.
Primary Leptomeningeal Gliomatosis in Children and Adults: A Morphological and Molecular Comparative Study With Literature Review.
Tauziede-Espariat A, Maues de Paula A, Pages M, Laquerriere A, Caietta E, Delpont B, Viennet G, Medeiros de Bustos E, Moulin T, Barnerias C, Vauleon E, Grill J, Chiforeanu D, Vasiljevic A, Varlet P. Tauziede-Espariat A, et al. Among authors: barnerias c. Neurosurgery. 2016 Mar;78(3):343-52. doi: 10.1227/NEU.0000000000001028. Neurosurgery. 2016. PMID: 26397750
101 results