Éva Morava - Concepedia

Author

Éva Morava

Also Known As

Brown, Garry, Christina Lam, David R. Murdock, E Morava, E. Morava, EVA MORAVA, Eva M. Sevick-Muraca, Eva M. Sevick-Muraca (463902), Eva Morava, Éva Morava

574

Publications

15.9K

Citations

H-Index

249

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Mayo Clinic Tulane University Mayo Clinic in Florida

ÉM

About

Éva Morava is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	12	12	911
2	Engineering	3	3	209
3	Arts	1	1	50
4	Education	1	1	81
5	Management	1	1	16

Éva Morava

219

Publications

11.9K

Citations

H-Index

Page 1

	Year	Citations
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy Judith Fischer, Caroline Lefèvre, Éva Morava, Nature Genetics Metabolic SyndromeLipid MetabolismBiochemistryGeneticsLipid Disorders	2006	457
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics	2003	426
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Cell Is MutatedGeneticsGlycobiologyMolecular BiologyCongenital Glycosylation Disorder	2010	303
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, New England Journal of Medicine	2014	279
Mitochondrial disease criteria Éva Morava, Lambertus P. van den Heuvel, Frans A. Hol, Neurology	2006	272
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, Nature Genetics Neurodegenerative DiseasesMendelian DisorderMitochondrial FunctionGenetic DisorderGenetics	2012	205
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald, Brain GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification	2007	204
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava, The American Journal of Human Genetics BiosynthesisMendelian DisorderBiochemistryGenetic DisorderNatural Sciences	2009	197
<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, Science UrologySomatic VariantAldehyde DehydrogenaseBiochemistryGenetic Disorder	2010	192
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing Sharita Timal, Alexander Hoischen, Ludwig Lehle, Human Molecular Genetics Mendelian DisorderGenetic DisorderWhole-exome SequencingGeneticsInherited Metabolic Disease	2012	170

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