177 results on '"Hansikova, H."'
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2. A new role for dolichol isoform profile in the diagnostics of CDG disorders
3. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
4. A new case of ALG8 deficiency (CDG Ih)
5. Expression patterns of ATP-synthase subunits in liver and muscle during rat prenatal and early postnatal development: SW03.S14–47
6. Developmental changes of gene expression of ATP synthase subunits and assembly factors in human fetal liver and muscle tissues: SW03.S14–31
7. Functional impact of mitochondrial complex I deficiency in fibroblasts of patients with m.3697G>A mutation in MTDN1: SW03.S14–27
8. Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations
9. Mutations in genes coding for ATP7B and ATP7A (causing Wilson and Menkes Diseases) in Czech Republic: 50
10. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
11. 5162Novel insights into desminopathy in the era of next generation sequencing
12. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
13. Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22nd Gestational Week
14. Oral D-galactose supplementation in PGM1-CDG
15. Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis
16. TMEM70 deficiency: long-term outcome of 48 patients
17. The phenotypic spectrum of fifty Czech m.3243A>G carriers
18. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model
19. Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22nd Gestational Week.
20. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
21. B33 Non-neural Mitochondrial Impairment In Huntington's Disease Patients And Minipigs Transgenic For The N-terminal Part Of Human Mutated Huntingtin
22. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
23. P.2.d.010 - Mitochondrial respiration in bipolar affective disorder
24. A new case of ALG8 deficiency (CDG Ih)
25. PW03-008 – Mitochondrial disturbances in Schnitzler syndrome
26. Human skin fibroblasts as a model of coenzyme Q10 deficiency
27. Transcriptional patterns of ATP-synthase subunits in rat liver and muscle tissues during development
28. Impact of mutation in TMEM70 gene on respiratory chain complexes and mitochondrial ultrastructure
29. Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development
30. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
31. 44 Knockdown of Cox6a subunit leads to decreased affinity for oxygen of cytochrome c oxidase
32. Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates
33. Mitochondrial DNA Depletion in Alpers Syndrome
34. Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G
35. Biogenesis of Eukaryotic Cytochrome c Oxidase.
36. Metabolism of carcinogenic N-nitroso-N-methylaniline by purified cytochromes P450 2B1 and P450 2B2
37. Developmental changes of gene expression of ATP synthase subunits and assembly factors in human fetal liver and muscle tissues
38. 129 PATIENTS WITH NEONATAL ONSET OF MITOCHONDRIAL DISORDER: A RETROSPECTIVE STUDY
39. Fast and simple non-invasive screening tool for mitochondrial changes in Huntington's disease
40. Cytochrome C oxidase deficiency in childhood
41. Functional capacity of mitochondrial energy: Generating system in premature neonates
42. Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
43. Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients
44. Mitochondrial energy generating system in liver during foetal development
45. Respiratory chain complexes and pyruvate dehydrogenase in liver during early stage of human development
46. CONGENITAL DISORDER OF GLYCOSYLATION RFT1-CDG AT TEENAGER SIBLINGS WITH PROFOUND MENTAL RETARDATION AND HEARING IMPAIRMENT
47. Diagnostic difficulties in patients with mtDNA deletions in muscle biopsy
48. Structural and functional changes of mitochondrial ATP synthase caused by mtDNA 9205delTA mutation in ATP gene
49. DIFFERENT LABORATORY AND MUSCLE BIOPSY FINDINGS IN FAMILY WITH M.8851 T > C MUTATION IN MITOCHONDRIAL MTATP6 GENE
50. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome at normoxia and hypoxia
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