Publications by authors named "Rene F de Coo"

14Publications

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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September 2016

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Neurology 2016 Mar 3;86(9):877-8. Epub 2016 Feb 3.

From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.

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March 2016

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Am J Ophthalmol 2006 Apr;141(4):676-82

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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April 2006

Muscle weakness as presenting symptom of osteogenesis imperfecta.

Eur J Pediatr 2006 Jun 14;165(6):392-4. Epub 2006 Mar 14.

Division of Endocrinology, Erasmus MC-Sophia Children's Hospital, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands.

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June 2006

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

Cardiovasc Res 2005 Feb;65(2):411-8

Cardiovascular Research Institute Maastricht (CARIM), Department of Genetics and Cell Biology, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.

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February 2005