I. D. de Coo

发表

How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models.

P. Lambin, M. V. van Gisbergen, A. Voets, 2015, Mutation research. Reviews in mutation research.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

I. D. de Coo, H. Smeets, M. Zeviani, 2005, American journal of human genetics.

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

I. D. de Coo, H. Smeets, J. Dreesen, 2013, Journal of Medical Genetics.

Additional mitochondrial DNA mutations may explain extra‐ocular involvement in LHON

I. D. de Coo, H. Smeets, P. D. de Jong, 2006, American journal of medical genetics. Part A.

Smad1/5/8 are myogenic regulators of murine and human mesoangioblasts

I. D. de Coo, D. Huylebroeck, M. Sampaolesi, 2015, Journal of molecular cell biology.

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation.

I. D. de Coo, H. Smeets, B. V. van Oost, 1996, American journal of human genetics.

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

I. D. de Coo, H. Smeets, V. Tiranti, 2013, Mitochondrion.

Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder

I. D. de Coo, H. Smeets, D. Hellebrekers, 2017, Clinical genetics.

A simplified and reliable assay for complex I in human blood lymphocytes.

I. D. de Coo, H. Smeets, W. Sluiter, 2007, Journal of immunological methods.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

I. D. de Coo, H. Smeets, P. Chinnery, 2012, Human reproduction update.

The transmission of OXPHOS disease and methods to prevent this.

I. D. de Coo, H. Smeets, J. Geraedts, 2006, Human reproduction update.

Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.

I. D. de Coo, H. Smeets, T. Gorgels, 2021, Mitochondrion.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

I. D. de Coo, R. Rodenburg, V. Wong, 2018, Clinical genetics.

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

I. D. de Coo, H. Smeets, H. Prokisch, 2011, Journal of Medical Genetics.

Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders.

A. Voets, I. D. de Coo, H. Smeets, 2012, Biochimica et biophysica acta.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation

I. D. de Coo, H. Smeets, T. Ayoubi, 2008, Journal of Medical Genetics.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

I. D. de Coo, H. Smeets, B. J. van den Bosch, 2009, Journal of Medical Genetics.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

I. D. de Coo, H. Smeets, M. Blok, 2007, Journal of Medical Genetics.

A mitochondrial tRNAVal gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

I. D. de Coo, H. Smeets, C. Catsman-Berrevoets, 1998, Neurology.

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus–Merzbacher disease

I. D. de Coo, V. Funanage, H. Marks, 2000, Neurology.

Pearson syndrome and the role of deletion dimers and duplications in the mtDNA

I. D. de Coo, H. Smeets, J. Geraedts, 2004, Journal of Inherited Metabolic Disease.

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

I. D. de Coo, E. Ostergaard, N. Darín, 2022, Kidney Diseases.

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

I. D. de Coo, H. Smeets, J. Geraedts, 2004, Molecular human reproduction.

A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

I. D. de Coo, H. Smeets, B. V. van Oost, 1999, Annals of neurology.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation

I. D. de Coo, T. Ayoubi, W. Sluiter, 2008, Journal of Medical Genetics.