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I.F.M. de Coo
Researcher at Erasmus University Rotterdam
Publications - 64
Citations - 2749
I.F.M. de Coo is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial myopathy. The author has an hindex of 31, co-authored 64 publications receiving 2524 citations. Previous affiliations of I.F.M. de Coo include Erasmus University Medical Center & Radboud University Nijmegen.
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Journal ArticleDOI
Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder
Gavin Hudson,Sharon Keers,Patrick Yu Wai Man,Philip G. Griffiths,Kirsi Huoponen,Marja-Liisa Savontaus,Eeva Nikoskelainen,Massimo Zeviani,Franco Carrara,Rita Horvath,Veronika Karcagi,Liesbeth Spruijt,I.F.M. de Coo,I.F.M. de Coo,Hubert J.M. Smeets,Patrick F. Chinnery +15 more
TL;DR: An X-chromosomal haplotype is defined that interacts with specific MTND mutations to cause visual failure in the most common mtDNA disease, Leber hereditary optic neuropathy, and explains the variable penetrance and sex bias that characterizes this disorder.
Journal ArticleDOI
How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models.
M.W. Van Gisbergen,A.M. Voets,Maud H.W. Starmans,I.F.M. de Coo,R. Yadak,Roland F. Hoffmann,Paul C. Boutros,Hubert J.M. Smeets,Ludwig Dubois,Philippe Lambin +9 more
TL;DR: How reported mtDNA variations interfere with cancer treatment and what implications this has on current successful pharmaceutical interventions are discussed and it is foresee that unraveling mt DNA variations can contribute to personalized therapy for specific cancer types and improve the outcome of the disease.
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A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome.
I.F.M. de Coo,W. O. Renier,Wim Ruitenbeek,H.J. ter Laak,M. Bakker,Hermann Schägger,B.A. van Oost,Hubert J.M. Smeets +7 more
TL;DR: Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene and a novel 4–base pair deletion was identified in 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes.
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Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease
TL;DR: It is demonstrated that duplications of the PLP gene are the major cause of Pelizaeus-Merzbacher disease, and it appears that the phenotype resulting from PLP duplications is relatively mild, and that many probands are nontypical PMD patients.
Journal ArticleDOI
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
M.S. van der Knaap,L. M. E. Smit,Peter G. Barth,Coriene E. Catsman-Berrevoets,Oebele F. Brouwer,J. H. Begeer,I.F.M. de Coo,J. Valk +7 more
TL;DR: MRI is an important adjunct in the classification of CMD patients and CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.