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Reference37 articles.
1. Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R (2016) Phenotypic convergence of Menkes and Wilson disease. Neurol Genet 2:e119
2. Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52:e1–e9
3. Bekri S, D’Hooghe M, Vermeersch P (1993–2017) X-linked sideroblastic anemia and ataxia. 2006 Mar 1 [updated 2014 Apr 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N (eds) GeneReviews® [Internet]. University of Washington, Seattle. Available from http://www.ncbi.nlm.nih.gov/books/NBK1321/
4. Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J (2000) X-linked congenital ataxia: a clinical and genetic study. Am J Med Genet 92:53–56
5. Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD, Care4Rare Canada Consortium, Dyment DA (2017) A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: a new case and review of the literature. Eur J Med Genet:pii: S1769-7212(17)30696-1. https://doi.org/10.1016/j.ejmg.2017.10.011