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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. Tonduti D, et al. Among authors: bertini e. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. Eur J Paediatr Neurol. 2016. PMID: 26643067
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Among authors: bertini e. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Shy ME, et al. Among authors: bertini e. Ann Neurol. 2003 Mar;53(3):354-65. doi: 10.1002/ana.10466. Ann Neurol. 2003. PMID: 12601703 Free PMC article.
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Among authors: bertini e. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431
934 results