Daniele Ghezzi - Concepedia

Author

Daniele Ghezzi

Fondazione IRCCS Istituto Neurologico Carlo Besta ORCID

Also Known As

D Ghezzi, D. Ghezzi, Daniele Ghezzi, Daniele Ghezzi⁎, Ghezzi Daniele, Ghezzi, Daniele

193

Publications

7.3K

Citations

H-Index

103

Concepts

All Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta University of Milan Istituti di Ricovero e Cura a Carattere Scientifico Helmholtz Zentrum München Technical University of Munich

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	30	41	3K
2	Social Sciences	5	5	260
3	Engineering	3	3	171
4	Natural Sciences	3	3	350
5	Public Health	1	1	206

Daniele Ghezzi

Publications

6.7K

Citations

H-Index

Page 1

	Year	Citations
Genetic diagnosis of Mendelian disorders via RNA sequencing Laura S. Kremer, Daniel M. Bader, Christian Mertes, Nature Communications	2017	566
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy Daniele Ghezzi, P Goffrini, Graziella Uziel, Nature Genetics Sdh-defective Infantile LeukoencephalopathyDisease MechanismGenetic DisorderImmune Cell DevelopmentImmunology	2009	244
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi, The American Journal of Human Genetics MitophagyMitochondrial FunctionGeneticsApoptosisAutophagy	2010	225
Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack, Brain	2012	216
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians Daniele Ghezzi, Cécilia Marelli, Alessandro Achilli, European Journal of Human Genetics Mendelian DisorderMitochondrial FunctionGeneticsGenetic EpidemiologyLower Risk	2005	206
Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Neurology	2014	201
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, The American Journal of Human Genetics Cardiac MuscleGeneticsMolecular BiologyMolecular GeneticsMitochondrial Biology	2012	192
Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Genome Medicine	2022	184
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy Xiaowu Gai, Daniele Ghezzi, Mark Johnson, The American Journal of Human Genetics Mitochondrial MyopathyMitophagyMendelian DisorderMitochondrial BiogenesisMitochondrial Function	2013	176
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies Daniele Ghezzi, Paola Arzuffi, Mauro Agostino Zordan, Nature Genetics Neurodegenerative DiseasesMitochondrial FunctionGenetic DisorderNeurological ImpairmentGenetics	2011	170

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