Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Daniele Ghezzi, P Goffrini, Graziella Uziel et al. · Nature Genetics · 2009 · 245 citations

Life Sciences, Genetics, Molecular Genetics +9

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano et al. · The American Journal of Human Genetics · 2006 · 204 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Valeria Massa, Erika Fernández‐Vizarra, Saad AlShahwan et al. · The American Journal of Human Genetics · 2008 · 193 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Paule Bénit, Réjane Beugnot, Dominique Chrétien et al. · Human Mutation · 2003 · 162 citations

Life Sciences, Genetics, Molecular Genetics +17