Daniele Ghezzi

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 597 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi et al. · The American Journal of Human Genetics · 2010 · 231 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack et al. · Brain · 2012 · 216 citations · Full text

Life Sciences, Genetics, Neurology +17

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

Daniele Ghezzi, Cécilia Marelli, Alessandro Achilli et al. · European Journal of Human Genetics · 2005 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14