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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M. Grossi S, et al. Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40. Orphanet J Rare Dis. 2011. PMID: 21679407 Free PMC article.
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
Combes P, Kammoun N, Monnier A, Gonthier-Guéret C, Giraud G, Bertini E, Chahnez T, Fakhfakh F, Boespflug-Tanguy O, Vaurs-Barrière C. Combes P, et al. Ann Neurol. 2012 Jan;71(1):146-8. doi: 10.1002/ana.22295. Epub 2011 Jan 18. Ann Neurol. 2012. PMID: 21246605 No abstract available.
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
Boespflug-Tanguy O, Aubourg P, Dorboz I, Bégou M, Giraud G, Sarret C, Vaurs-Barrière C. Boespflug-Tanguy O, et al. Am J Hum Genet. 2011 Mar 11;88(3):392-3; author reply 393-5. doi: 10.1016/j.ajhg.2010.12.015. Am J Hum Genet. 2011. PMID: 21397067 Free PMC article. No abstract available.
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.
Ruiz M, Bégou M, Launay N, Ranea-Robles P, Bianchi P, López-Erauskin J, Morató L, Guilera C, Petit B, Vaurs-Barriere C, Guéret-Gonthier C, Bonnet-Dupeyron MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A. Ruiz M, et al. Among authors: vaurs barriere c. Brain Pathol. 2018 Sep;28(5):611-630. doi: 10.1111/bpa.12571. Epub 2017 Dec 26. Brain Pathol. 2018. PMID: 29027761 Free PMC article.
30 results