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Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Among authors: tortori donati p. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682
Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: tortori donati p. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097
Genetic disorders affecting white matter in the pediatric age.
Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Di Rocco M, et al. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):85-93. doi: 10.1002/ajmg.b.30029. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15274047 Review.
65 results