Jan Loeffen

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

Life Sciences, Genetics, Molecular Genetics +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

Life Sciences, Genetics, Molecular Genetics +7

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Hans F. A. Vasen, Zeinab Ghorbanoghli, Franck Bourdeaut et al. · Journal of Medical Genetics · 2014 · 204 citations · Full text

Life Sciences, Genetics, Oncology +17

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

Life Sciences, Genetics, Molecular Genetics +12

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 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17