Graziella Uziel

Overview

Best Publications

• Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

  Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  632
  Citations

• Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

  Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel

  545
  Citations

• Cytochrome C oxidase deficiency in Leigh syndrome

  Salvatore DiMauro;Serenella Servidei;Massimo Zeviani;Maja DiRocco

  443
  Citations

• Clinical and molecular findings in children with complex I deficiency.

  M. Bugiani;F. Invernizzi;S. Alberio;E. Briem

  317
  Citations

• Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

  Tobias B. Haack;Katharina Danhauser;Birgit Haberberger;Jonathan Hoser

  312
  Citations

• Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

  Carlo Dionisi-Vici;Cristiano Rizzo;Alberto B. Burlina;Ubaldo Caruso

  311
  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

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

  Daniele Ghezzi;Irina Sevrioukova;Federica Invernizzi;Costanza Lamperti

  234
  Citations

• Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

  Michelangelo Mancuso;Daniele Orsucci;Corrado Angelini;Enrico Bertini

  207
  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

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

  Erika Fernandez-Vizarra;Marianna Bugiani;Paola Goffrini;Franco Carrara

  194
  Citations

• Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

  G Uziel;I Moroni;E Lamantea;G M Fratta

  173
  Citations

• Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

  Jennifer L. Orthmann-Murphy;Ettore Salsano;Charles K. Abrams;Alberto Bizzi

  170
  Citations

• Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

  Franco Taroni;Elisabetta Verderio;Stefania Fiorucci;Patrizia Cavadini

  170
  Citations

• Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria.

  G Uziel;B Garavaglia;S Di Donato

  158
  Citations

• The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

  Michelangelo Mancuso;Daniele Orsucci;Corrado Angelini;Enrico Bertini

  151
  Citations

• A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

  Valeria Tiranti;Paola Corona;Marilena Greco;Jan Willem Taanman

  150
  Citations

• Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

  V. Tiranti;M. Jaksch;S. Hofmann;C. Galimberti

  149
  Citations

• An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

  Marjan E. Steenweg;Cornelis Jakobs;Abdellatif Errami;Silvy J.M. van Dooren

  136
  Citations

• Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

  C. Gellera;G. Uziel;M. Rimoldi;M. Zeviani

  130
  Citations