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Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O. Mimault C, et al. Among authors: giraud g. Am J Hum Genet. 1999 Aug;65(2):360-9. doi: 10.1086/302483. Am J Hum Genet. 1999. PMID: 10417279 Free PMC article.
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R. Vaurs-Barrière C, et al. Among authors: giraud g. Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. Ann Neurol. 2009. PMID: 19194886 Free article.
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O. Sarret C, et al. Among authors: giraud g. J Neurol Sci. 2012 Jan 15;312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006. Epub 2011 Aug 26. J Neurol Sci. 2012. PMID: 21872273
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. Among authors: giraud g. 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.
575 results