Concepedia

Daniele Ghezzi

DG

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Publications

92

Citations

6.7K

H-Index

47

Active since

2004

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University of Milan

Istituti di Ricovero e Cura a Carattere Scientifico

Helmholtz Zentrum München

Technical University of Munich

Daniele Ghezzi is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in medicine, genetics, and mitochondrial function.

ORCID

Top concepts

Publications per year

2004–2024

92

Publications

92

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 566 citations · Full text

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

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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 · 225 citations · Full text

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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

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 · 206 citations · Full text

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