P Goffrini

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 · 244 citations

Sdh-defective Infantile Leukoencephalopathy, Disease Mechanism, Genetic Disorder +10

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 200 citations · Full text

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 · 191 citations · Full text

Severe Infantile Encephalomyopathy, Biochemistry, Natural Sciences +12

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini et al. · Human Molecular Genetics · 2007 · 180 citations · Full text

Recessive germline <i>SDHA</i> and <i>SDHB</i> mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

Charlotte L. Alston, James Davison, Francesca Meloni et al. · Journal of Medical Genetics · 2012 · 122 citations · Full text