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1. Full Text The functional genomics laboratory: functional validation of genetic variants
by Rodenburg, Richard J
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 297 - 307
Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MISSENSE VARIANTS | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | COMPLEX | DISORDERS | MITOCHONDRIAL DISEASE | IDENTIFICATION | DEFICIENCY | PLURIPOTENT STEM-CELLS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | TMEM126B | Genetic research | Medicine, Experimental | Medical research | Genomics | Genetic screening | Medical genetics | Pathogenicity | Genotype & phenotype | Genetic variance | Mitochondria | Genetic counseling | Inborn errors of metabolism
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2. Full Text Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphote synthase subunit 2 (PDSS2) mutations
by López, Luis Carlos and Schuelke, Markus and Quinzii, Catarina M and Kanki, Tomotake and Rodenburg, Richard J. T and Naini, Ali and DiMauro, Salvatore and Hirano, Michio
American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 6, pp. 1125 - 1129
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3. Full Text Age-Dependent Decrease of Mitochondrial Complex II Activity in a Familial Mouse Model for Alzheimer’s Disease
by Emmerzaal, Tim L and Rodenburg, Richard J and Tanila, Heikki and Verweij, Vivienne and Kiliaan, Amanda J and Kozicz, Tamas
Journal of Alzheimer's Disease, ISSN 1387-2877, 10/2018, Volume 66, Issue 1, pp. 75 - 82
Alzheimer’s disease (AD) is a severe neurodegenerative disorder for which the exact etiology is largely unknown. An increasingly recognized and investigated... 
Phosphorylation | Enzymatic activity | Neurodegenerative diseases | Etiology | Presenilin 1 | Rodents | Amyloid | Electron transport | Alzheimer's disease | Age | Plaques
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4. Full Text Mitochondrial complex I-linked disease
by Rodenburg, Richard J
BBA - Bioenergetics, ISSN 0005-2728, 07/2016, Volume 1857, Issue 7, pp. 938 - 945
Complex I deficiency is the most frequently encountered single mitochondrial single enzyme deficiency in patients with a mitochondrial disorder. Although... 
Complex I | Enzyme measurement | mtDNA | Whole exome sequencing | Mitochondrial disease | RESPIRATORY-CHAIN | EXOME | SUPEROXIDE-PRODUCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | CLINICAL-FEATURES | DEFICIENCY | ATP PRODUCTION | BIOPHYSICS | LEIGH-SYNDROME | CALCIUM UNIPORTER | MUTATION | HEREDITARY OPTIC NEUROPATHY | Enzymes | Genes | Genomics | Genetic screening
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5. Full Text ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV
by Kwong, Anna Ka-Yee and Chu, Vanessa Loi-Yan and Rodenburg, Richard J T and Smeitink, Jan and Fung, Cheuk-Wing
Brain & development, ISSN 0387-7604, 07/2019
ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. We studied a family... 
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6. Full Text Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease
by Schoonen, Maryke and Smuts, Izelle and Louw, Roan and Elson, Joanna L and van Dyk, Etresia and Jonck, Lindi-Maryn and Rodenburg, Richard J.T and van der Westhuizen, Francois H
The Journal of Molecular Diagnostics, ISSN 1525-1578, 05/2019, Volume 21, Issue 3, pp. 503 - 513
Mitochondrial disease (MD) is a group of rare inherited disorders with clinical heterogeneous phenotypes. Recent advances in next-generation sequencing (NGS)... 
DIAGNOSIS | PROTEIN | PATHOGENICITY | VARIANTS | GENE | DNA | COA DEHYDROGENASE-DEFICIENCY | MUSCLE | MUTATIONS | PATHOLOGY | MOLECULAR-MECHANISMS
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7. Full Text Biochemical diagnosis of mitochondrial disorders
by Rodenburg, R.J.T
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 2, pp. 283 - 292
Establishing a diagnosis in patients with a suspected mitochondrial disorder is often a challenge. Both knowledge of the clinical spectrum of mitochondrial... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | RESPIRATORY-CHAIN COMPLEXES | PYRUVATE-DEHYDROGENASE | OXIDATIVE-PHOSPHORYLATION | MUSCLE MITOCHONDRIA | HYPERTROPHIC CARDIOMYOPATHY | I DEFICIENCY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | UBIQUINONE OXIDOREDUCTASE DEFICIENCY | 3-METHYLGLUTACONIC ACIDURIA | ENERGY-GENERATING-SYSTEM | PRENATAL-DIAGNOSIS | Mitochondrial Diseases - genetics | Biopsy - methods | Mitochondria, Muscle - pathology | Humans | Cells, Cultured | Oxidative Phosphorylation | Genotype | Genetic Variation | Animals | Time Factors | Models, Biological | Oxygen - chemistry | Fibroblasts - cytology | Adenosine Triphosphate - chemistry | Mitochondrial Diseases - diagnosis | Enzymes | Analysis | Mitochondrial DNA | Mitochondrial Medicine
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8. Full Text Age-Dependent Decrease of Mitochondrial Complex II Activity in a Familial Mouse Model for Alzheimer's Disease
by Emmerzaal, Tim L and Rodenburg, Richard J and Tanila, Heikki and Verweij, Vivienne and Kiliaan, Amanda J and Kozicz, Tamas
Journal of Alzheimer's disease : JAD, ISSN 1387-2877, 2018, Volume 66, Issue 1, pp. 75 - 82
Alzheimer's disease (AD) is a severe neurodegenerative disorder for which the exact etiology is largely unknown. An increasingly recognized and investigated... 
electron transport complex IV | amyloid beta-peptides | Alzheimer’s disease | mice | mitochondria | electron transport complex II | OXIDATIVE-PHOSPHORYLATION SYSTEM | APP/PS1 MICE | RESPIRATORY-CHAIN | COGNITIVE IMPAIRMENT | AMYLOID PRECURSOR PROTEIN | CHRONIC STRESS | NEUROSCIENCES | BETA | CYTOCHROME-C-OXIDASE | DYSFUNCTION | ENERGY-METABOLISM | Alzheimer's disease
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9. Full Text Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function
: Impaired contractility in iron-deficient cardiomyocytes
by Hoes, Martijn F and Grote Beverborg, Niels and Kijlstra, J. David and Kuipers, Jeroen and Swinkels, Dorine W and Giepmans, Ben N.G and Rodenburg, Richard J and van Veldhuisen, Dirk J and de Boer, Rudolf A and van der Meer, Peter
European Journal of Heart Failure, ISSN 1388-9842, 05/2018, Volume 20, Issue 5, pp. 910 - 919
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10. Mitochondrial complex I-linked disease
by Rodenburg, Richard J
Biochimica et biophysica acta, ISSN 0006-3002, 07/2016, Volume 1857, Issue 7, p. 938
Complex I deficiency is the most frequently encountered single mitochondrial single enzyme deficiency in patients with a mitochondrial disorder. Although... 
Biomarkers - metabolism | Developmental Disabilities | Cataract | Genetic Predisposition to Disease - genetics | Models, Chemical | Mitochondrial Myopathies | Humans | Electron Transport Complex I - metabolism | Molecular Dynamics Simulation | Electron Transport Complex I - chemistry | Mitochondria | Electron Transport Complex I - genetics | Protein Conformation | Enzyme Activation | Mutation | Hearing Loss
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11. Full Text Mutations inRARScause hypomyelination
: RARSMutations
by Wolf, Nicole I and Salomons, Gajja S and Rodenburg, Richard J and Pouwels, Petra J. W and Schieving, Jolanda H and Derks, Terry G. J and Fock, Johanna M and Rump, Patrick and van Beek, Daphne M and van der Knaap, Marjo S and Waisfisz, Quinten
Annals of Neurology, ISSN 0364-5134, 07/2014, Volume 76, Issue 1, pp. 134 - 139
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12. Full Text A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
by Neveling, K and Feenstra, I and Gilissen, C and Hoefsloot, L.H and Kamsteeg, E.J and Mensenkamp, A.R and Rodenburg, R.J.T and Yntema, H.G and Spruijt, L and Vermeer, S and Rinne, T and Gassen, K.L.I. van and Bodmer, D and Lugtenberg, D and Reuver, R. de and Buijsman, W and Derks, R.C and Wieskamp, N and Heuvel, B. van den and Ligtenberg, M.J.L and Kremer, H and Koolen, D.A and Warrenburg, B.P.C. van de and Cremers, F.P.M and Marcelis, C.L.M and Smeitink, J.A.M and Wortmann, S.B and Zelst-Stams, W.A.G. van and Veltman, J.A and Brunner, H.G and Scheffer, H and Nelen, M.R
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a... 
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | ABCA4 | MISSENSE MUTATIONS | GENOME | COLORECTAL-CANCER | GENES | GENETICS & HEREDITY | GERMLINE MUTATIONS | CLINICAL-PRACTICE | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing
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13. Full Text Mitochondrial ATP synthase: architecture, function and pathology
by Jonckheere, A.I and Smeitink, J.A.M and Rodenburg, R.J.T
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2012, Volume 35, Issue 2, pp. 211 - 225
Human mitochondrial (mt) ATP synthase, or complex V consists of two functional domains: F(1), situated in the mitochondrial matrix, and F(o), located in the... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | DNA T8993G MUTATION | RESPIRATORY-CHAIN | OXIDATIVE-PHOSPHORYLATION | F-1 EPSILON-SUBUNIT | BILATERAL STRIATAL NECROSIS | LEIGH-SYNDROME | BLUE NATIVE ELECTROPHORESIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ADENOSINE-TRIPHOSPHATASE | HEREDITARY OPTIC NEUROPATHY | SACCHAROMYCES-CEREVISIAE | Mitochondrial Proton-Translocating ATPases - genetics | Mitochondria - enzymology | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Humans | Adenosine Diphosphate - metabolism | Mitochondria - pathology | Mitochondrial Proton-Translocating ATPases - metabolism | Oligomers | Review
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14. Full Text Mutations in RARS cause hypomyelination
by Wolf, Nicole I and Salomons, Gajja S and Rodenburg, Richard J and Pouwels, Petra J. W and Schieving, Jolanda H and Derks, Terry G. J and Fock, Johanna M and Rump, Patrick and van Beek, Daphne M and van der Knaap, Marjo S and Waisfisz, Quinten
Annals of Neurology, ISSN 0364-5134, 07/2014, Volume 76, Issue 1, pp. 134 - 139
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic... 
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15. Full Text Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation
by de Laat, Paul and Koene, Saskia and vd Heuvel, Lambert P. W. J and Rodenburg, Richard J. T and Janssen, Mirian C. H and Smeitink, Jan A. M
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2012, Volume 35, Issue 6, pp. 1155 - 1156
Biochemistry, general | </