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Your search keyword '"Kunz W. S."' showing total 125 results

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125 results on '"Kunz W. S."'

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1. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

2. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

4. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

6. Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

9. Polygenic burden in focal and generalized epilepsies

10. A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

13. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

17. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

18. Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

19. Mosaic mitochondrial respiratory chain deficiency causes cardiac arrhythmia during ageing

20. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

21. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32

25. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

28. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

33. Overexpression of bcl-2 Results in Reduction of Cytochrome c Content and Inhibition of Complex I Activity

35. Flux control of cytochrome c oxidase in human skeletal muscle.

37. Increase of flux control of cytochrome c oxidase in copper-deficient mottled brindled mice.

40. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

41. Mesial temporal lobe epilepsy associated with KCNT1 mutation.

42. Large-conductance K+ channel openers induce death of human glioma cells.

43. Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

44. [Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].

45. Mitochondrial dysfunction in neurodegenerative disorders.

46. [Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].

47. Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course.

48. Effect of creatine supplementation on metabolite levels in ALS motor cortices.

49. Defective mitochondrial oxidative phosphorylation in myopathies with tubular aggregates originating from sarcoplasmic reticulum.

50. Control of oxidative phosphorylation in skeletal muscle.

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