572 results on '"Kunz, Wolfram S."'
Search Results
2. Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
3. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
4. Secondary structure of the human mitochondrial genome affects formation of deletions
5. Genetic causes of rare and common epilepsies: What should the epileptologist know?
6. Mitochondrial Retinopathy
7. Distinct gene-set burden patterns underlie common generalized and focal epilepsies
8. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
9. Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers
10. Heme is required for carbon monoxide activation of mitochondrial BKCa channel
11. Signaling pathways targeting mitochondrial potassium channels
12. Cytosolic, but not matrix, calcium is essential for adjustment of mitochondrial pyruvate supply
13. Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease
14. Quasi-Mendelian paternal inheritance of mitochondrial DNA : A notorious artifact, or anticipated behavior?
15. Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A
16. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
17. Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia
18. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
19. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
20. Functional Imaging of Mitochondria in Saponin-Permeabilized Mice Muscle Fibers
21. Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease
22. Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures
23. Replication fork rescue in mammalian mitochondria
24. Selenium Ameliorated Oxidized Fish Oil-Induced Lipotoxicity via the Inhibition of Mitochondrial Oxidative Stress, Remodeling of Usp4-Mediated Deubiquitination, and Stabilization of Pparα.
25. Mitochondrial dysfunction and seizures: the neuronal energy crisis
26. Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging
27. Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity–Impairing Genes
28. Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy
29. Hemin inhibits the large conductance potassium channel in brain mitochondria: A putative novel mechanism of neurodegeneration
30. Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
31. Linear mitochondrial DNA is rapidly degraded by components of the replication machinery
32. Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
33. Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy
34. Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis
35. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
36. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
37. The contribution of thioredoxin-2 reductase and glutathione peroxidase to H2O2 detoxification of rat brain mitochondria
38. Fear Processing and Social Networking in the Absence of a Functional Amygdala
39. Changes in mitochondrial reactive oxygen species synthesis during differentiation of skeletal muscle cells
40. Mitochondrial dysfunction in epilepsy
41. Myofiber Integrity Depends on Desmin Network Targeting to Z-Disks and Costameres via Distinct Plectin Isoforms
42. Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery
43. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
44. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
45. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants
46. The Fate of Oxidative Strand Breaks in Mitochondrial DNA.
47. Complex III-dependent superoxide production of brain mitochondria contributes to seizure-related ROS formation
48. Repeats, longevity and the sources of mtDNA deletions: evidence from ‘deletional spectra’
49. Mitochondrial potassium channels and reactive oxygen species
50. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.