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1. Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

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

3. Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients

4. Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

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

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

7. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

8. Using urine to diagnose large‐scale mtDNA deletions in adult patients

9. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

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

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

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

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

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

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

16. Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

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

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

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

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

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

22. Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice

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

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

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

26. Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency

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

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

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

30. Human mutations in integrator complex subunits link transcriptome integrity to brain development

31. Leigh syndrome caused by mutations in <scp>MTFMT</scp> is associated with a better prognosis

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

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

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

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

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

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

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

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

40. Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation

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

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

43. Selecting the right embryo in mitochondrial disorders

44. Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

45. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

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

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

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

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

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

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