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Page 1
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.
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.
Cardone N, Taglietti V, Baratto S, Kefi K, Periou B, Gitiaux C, Barnerias C, Lafuste P, Pharm FL, Pharm JN, Panicucci C, Desguerre I, Bruno C, Authier FJ, Fiorillo C, Relaix F, Malfatti E. Cardone N, et al. Among authors: barnerias c. Acta Neuropathol Commun. 2023 Oct 19;11(1):167. doi: 10.1186/s40478-023-01657-z. Acta Neuropathol Commun. 2023. PMID: 37858263 Free PMC article.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A, Pichard S, Schiff M, Bouchereau J, Bérat CM, Caillaud C, Pion A, Khraiche D, Fauroux B, Oualha M, Barnerias C, Desguerre I, Hully M, Maquet M, Deladrière E, de Lonlay P, Gitiaux C. Brassier A, et al. Among authors: barnerias c. Mol Genet Metab. 2023 Aug;139(4):107650. doi: 10.1016/j.ymgme.2023.107650. Epub 2023 Jul 11. Mol Genet Metab. 2023. PMID: 37454519
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
Barrois R, Barnerias C, Deladrière E, Leloup-Germa V, Tervil B, Audic F, Boulay C, Cances C, Cintas P, Davion JB, Espil-Taris C, Manel V, Pereon Y, Piarroux J, Quijano Roy S, Vuillerot C, Walther-Louvier U, Desguerre I, Gitiaux C. Barrois R, et al. Among authors: barnerias c. Neuromuscul Disord. 2023 Apr;33(4):309-314. doi: 10.1016/j.nmd.2023.02.004. Epub 2023 Feb 11. Neuromuscul Disord. 2023. PMID: 36881951
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.
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Among authors: barnerias c. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome.
Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ. Rice GI, et al. Among authors: barnerias c. N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. N Engl J Med. 2018. PMID: 30566312 Free article. No abstract available.
96 results