Eva Morava

Overview

Best Publications

• The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

  Judith Fischer;Caroline Lefèvre;Eva Morava;Jean-Marie Mussini

  531
  Citations

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

  Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  420
  Citations

• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Vincent Cantagrel;Dirk J. Lefeber;Bobby G. Ng;Ziqiang Guan

  334
  Citations

• Mitochondrial disease criteria: diagnostic applications in children.

  E. Morava;L.P.W.J. van den Heuvel;F.A. Hol;M.C. de Vries

  330
  Citations

• Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

  Suzan Wopereis;Dirk J. Lefeber;Éva Morava;Ron A. Wevers

  283
  Citations

• Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

  Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng

  273
  Citations

• A guide to diagnosis and treatment of Leigh syndrome

  Fabian Baertling;Richard J. T. Rodenburg;Jörg Schaper;Jan A. M. Smeitink

  270
  Citations

• SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

  Rosalba Carrozzo;Carlo Dionisi-Vici;Ulrike Steuerwald;Simona Lucioli

  246
  Citations

• Congenital disorders of glycosylation (CDG): Quo vadis?

  Romain Péanne;Pascale de Lonlay;François Foulquier;Uwe Kornak

  244
  Citations

• Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

  Saskia B Wortmann;Frédéric M Vaz;Thatjana Gardeitchik;Lisenka E L M Vissers

  244
  Citations

• IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

  Martijn Kranendijk;Eduard A. Struys;Emile van Schaftingen;K. Michael Gibson

  234
  Citations

• An international classification of inherited metabolic disorders (ICIMD).

  Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  219
  Citations

• Gene identification in the Congenital Disorders of Glycosylation type I by whole-exome sequencing

  Sharitakoemari Timal;Alexander Hoischen;Ludwig Lehle;Maciej Adamowicz

  218
  Citations

• Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

  Dirk J Lefeber;Johannes Schönberger;Eva Morava;Mailys Guillard

  216
  Citations

• Cantú Syndrome Is Caused by Mutations in ABCC9

  Bregje W.M. van Bon;Christian Gilissen;Dorothy K. Grange;Raoul C.M. Hennekam

  196
  Citations

• Autosomal recessive cutis laxa syndrome revisited

  Éva Morava;Maïlys Guillard;Dirk J Lefeber;Ron A Wevers

  178
  Citations

• Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

  Vishwanathan Hucthagowder;Eva Morava;Uwe Kornak;Dirk J. Lefeber

  166
  Citations

• Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

  Dirk J. Lefeber;Arjan P. M. de Brouwer;Eva Morava;Moniek Riemersma

  164
  Citations

• Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy

  Richard J. F.L. Lemmers;Mariëlle Wohlgemuth;Rune R. Frants;George W. Padberg

  164
  Citations

• OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

  SP Robertson;Twigg;AJ Sutherland-Smith;Biancalana

  97
  Citations