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Page 1
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: bertini e. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 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
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: bertini e. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Among authors: bertini e. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. Henneke M, et al. Among authors: bertini e. Neurology. 2008 Mar 4;70(10):748-54. doi: 10.1212/01.wnl.0000284828.84464.35. Epub 2007 Dec 19. Neurology. 2008. PMID: 18094336
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: bertini e. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: bertini e. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674
Hypomyelinating leukodystrophies: translational research progress and prospects.
Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Pouwels PJ, et al. Among authors: bertini e. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Ann Neurol. 2014. PMID: 24916848 Free article. Review.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Among authors: bertini e. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
904 results