20 results on '"Prokisch, H."'
Search Results
2. Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect.
3. SFP CO-68 - ACAD9 : rôle dual dans le métabolisme énergétique mitochondrial.
4. A common atopy-associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD3 and SP1 binding.
5. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.
6. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
7. DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments.
8. Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN)
9. Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy
10. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
11. M17 - Novel GFM2 variants identified in two cases of early-onset mitochondrial disease cause impaired expression of mtDNA encoded OXPHOS subunits.
12. Bezafibrate as treatment option in patients with mitochondrial complex I deficiency.
13. Cofactor deficiency in mitochondrial diseases.
14. M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene mutations
15. Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients.
16. Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases.
17. Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations.
18. Sengers syndrome is caused by a deficiency of the acylglycerol kinase.
19. Cofactor defects as a cause of mitochondrial encephalomyopathies.
20. M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene cause myopathic form of coenzyme Q10 deficiency
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