L. V. D. Heuvel

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1998, Human molecular genetics.

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

E. Shoubridge, H. Antonicka, R. Rossi, 2004, The New England journal of medicine.

Inhibition of Mitochondrial Na (cid:1) -Ca 2 (cid:1) Exchange Restores Agonist-induced ATP Production and Ca 2 (cid:1) Handling in Human Complex I Deficiency*

G. Rutter, J. Smeitink, L. P. Van den Heuvel, 2004 .

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

L. V. D. Heuvel, J. Smeitink, L. E. Niers, 2003, Journal of Inherited Metabolic Disease.

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

H. Blom, G. Boers, L. Kluijtmans, 1996, The Journal of clinical investigation.

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

R. Wevers, J. Smeitink, L. P. Van den Heuvel, 1998, Human Genetics.