Roel Smeets

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 · 282 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

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

Human Complex, Genetic Disorder, Genetics +9

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

Jan Loeffen, Orly Elpeleg, Jan Smeitink et al. · Annals of Neurology · 2001 · 192 citations

Genetics, Pathology, Molecular Biology +17

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen et al. · Annals of Neurology · 1999 · 192 citations · Full text

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 185 citations

Enzymatic Complex, Genetic Disorder, Natural Sciences +8