Concepedia

Lambert van den Heuvel

LV

Statistics

Publications

45

Citations

3.2K

H-Index

29

Active since

1995

Affiliations

Radboud University Nijmegen(Current)

Radboud University Medical Center

KU Leuven

Radboud Institute for Molecular Life Sciences

Charité - Universitätsmedizin Berlin

Lambert van den Heuvel is an author at Radboud University Nijmegen specializing in life sciences, genetics, and molecular genetics.

Publications per year

1995–2023

45

Publications

45

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Jan Loeffen, Ralf Triepels, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 285 citations · Full text

, , +7

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 264 citations · Full text

, , +7

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 et al. · The American Journal of Human Genetics · 2009 · 198 citations · Full text

, , +14

Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink et al. · Annals of Neurology · 2001 · 193 citations

, , +12

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

Jessica Nouws, Leo Nijtmans, Sander M. Houten et al. · Cell Metabolism · 2010 · 191 citations

, , +13

1–5 of 45