Daniele Ghezzi

Overview

Best Publications

• Genetic diagnosis of Mendelian disorders via RNA sequencing

  Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich

  522
  Citations

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

  Daniele Ghezzi;Paola Goffrini;Graziella Uziel;Rita Horvath;Rita Horvath

  293
  Citations

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

  Daniele Ghezzi;Cecilia Marelli;Alessandro Achilli;Stefano Goldwurm

  257
  Citations

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

  Marjan E. Steenweg;Daniele Ghezzi;Tobias Haack;Truus E.M. Abbink

  239
  Citations

• Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

  Daniele Ghezzi;Irina Sevrioukova;Federica Invernizzi;Costanza Lamperti

  234
  Citations

• Novel (ovario) leukodystrophy related to AARS2 mutations

  Cristina Dallabona;Daria Diodato;Sietske H. Kevelam;Tobias B. Haack

  222
  Citations

• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

  Daniele Ghezzi;Enrico Baruffini;Tobias B. Haack;Federica Invernizzi

  206
  Citations

• Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

  Daniele Ghezzi;Paola Arzuffi;Mauro Zordan;Caterina Da Re

  199
  Citations

• Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.

  Daniele Ghezzi;Massimo Zeviani

  182
  Citations

• The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

  Daria Diodato;Daniele Ghezzi;Valeria Tiranti

  169
  Citations

• Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

  Xiaowu Gai;Daniele Ghezzi;Mark A. Johnson;Caroline A. Biagosch

  161
  Citations

• Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

  Carlo Rinaldi;Christopher Grunseich;Irina F. Sevrioukova;Alice Schindler

  150
  Citations

• Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

  Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  148
  Citations

• FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

  Daniele Ghezzi;Ann Saada;Pio D'Adamo;Erika Fernandez-Vizarra

  140
  Citations

• Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

  Rikke K.J. Olsen;Eliška Koňaříková;Teresa A. Giancaspero;Signe Mosegaard

  132
  Citations

• Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

  Nunziata Maio;Daniele Ghezzi;Daniela Verrigni;Teresa Rizza

  124
  Citations

• Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

  Sarah L. Stenton;Natalia L. Sheremet;Claudia B. Catarino;Natalia A. Andreeva

  121
  Citations

• VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

  Daria Diodato;Laura Melchionda;Tobias B. Haack;Cristina Dallabona

  121
  Citations

• RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

  Aurelio Reyes;Laura Melchionda;Alessia Nasca;Franco Carrara

  119
  Citations

• COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

  Gloria Brea-Calvo;Tobias B. Haack;Daniela Karall;Akira Ohtake

  117
  Citations