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40 results on '"Irenaeus F.M. de Coo"'

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1. Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency

2. Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

3. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

4. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

5. Plasma GDF-15 concentration is not elevated in open-angle glaucoma

6. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease

7. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

8. Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

9. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

10. Anatomic & metabolic brain markers of the m.3243A > G mutation: A multi-parametric 7T MRI study

11. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

12. Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy

13. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

14. Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

15. Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

16. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

17. Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency

18. De novo mtDNA point mutations are common and have a low recurrence risk

19. International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

20. Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

21. Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

22. Novel no-stop FLNA mutation causes multi-organ involvement in males

23. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

24. RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

25. Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities

26. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

27. Combined cardiological and neurological abnormalities due to filamin A gene mutation

28. Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

29. Extensive cerebral infarction in the newborn due to incontinentia pigmenti

30. Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

31. Selecting the right embryo in mitochondrial disorders

32. A multicenter study on Leigh syndrome: disease course and predictors of survival

33. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

34. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

35. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

36. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

37. Unbalanced der(5)t(5;20) Translocation Associated With Megalencephaly, Perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

38. P.7.8 The national Dutch dystrophinopathy patient registry

39. PRRT2 mutation causes benign familial infantile convulsions

40. Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

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