J
Jan Loeffen
Researcher at Erasmus University Rotterdam
Publications - 60
Citations - 2828
Jan Loeffen is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Cancer & Complementary DNA. The author has an hindex of 23, co-authored 53 publications receiving 2489 citations. Previous affiliations of Jan Loeffen include Radboud University Nijmegen & Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Jan Loeffen,Jan A.M. Smeitink,J. M. F. Trijbels,Antoon J.M. Janssen,R.H. Triepels,Rob C.A. Sengers,L.P.W.J. van den Heuvel +6 more
TL;DR: Clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent are examined.
Journal ArticleDOI
The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
Jan Loeffen,Jan A.M. Smeitink,Ralf H. Triepels,R.J.H. Smeets,Markus Schuelke,Rob C.A. Sengers,Frans J.M. Trijbels,Ben C.J. Hamel,Renier Mullaart,Lambert P. van den Heuvel +9 more
TL;DR: The first molecular genetic link between a nuclear-encoded subunit of complex I and Leigh syndrome is described, and two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome are described.
Journal ArticleDOI
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Markus Schuelke,Jan A.M. Smeitink,Edwin C. M. Mariman,Jan Loeffen,B Plecko,F.J.M. Trijbels,S Stöckler-Ipsiroglu,L.P.W.J. van den Heuvel +7 more
TL;DR: Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Journal ArticleDOI
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 P. van den Heuvel,Wim Ruitenbeek,R.J.H. Smeets,Zully Gelman-Kohan,Orly Elpeleg,Jan Loeffen,Frans J.M. Trijbels,Edwin C. M. Mariman,Diederik R.H. de Bruijn,Jan A.M. Smeitink +9 more
TL;DR: A homozygous 5-bp duplication, destroying a consensus phosphorylation site, in the 18-kD cDNA was found in a complex I-deficient patient and the patient showed normal muscle morphology and a remarkably nonspecific fatal progressive phenotype without increased lactate concentrations in body fluids.
Journal ArticleDOI
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
R.H. Triepels,L.P.W.J. van den Heuvel,Jan Loeffen,C. A. F. Buskens,R.J.P. Smeets,M. E. Rubio Gozalbo,S. M. S. Budde,Edwin C. M. Mariman,Frits A. Wijburg,Peter G. Barth,J. M. F. Trijbels,Jan A.M. Smeitink +11 more
TL;DR: The first missense mutation within the nuclear encoded complex I subunit, NDUFS7, is reported in 2 siblings with neuropathologically proven complex I–deficient Leigh syndrome.