878 results on '"Kunz, Wolfram S."'
Search Results
2. Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
3. Secondary structure of the human mitochondrial genome affects formation of deletions
4. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
5. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
6. Functional Assessment of Mitochondrial DNA Maintenance by Depletion and Repopulation Using 2’,3’-Dideoxycytidine in Cultured Cells
7. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
8. Genetic causes of rare and common epilepsies: What should the epileptologist know?
9. Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease
10. Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease
11. Molecular and Functional Effects of Loss of Cytochrome c Oxidase Subunit 8A
12. Quasi-Mendelian paternal inheritance of mitochondrial DNA : A notorious artifact, or anticipated behavior?
13. Mitochondrial mutation spectrum in Chordates: damage versus replication signatures, causes, and dynamics
14. Guide to the Pharmacology of Mitochondrial Potassium Channels
15. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
16. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration.
17. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
18. Selenium Ameliorated Oxidized Fish Oil-Induced Lipotoxicity via the Inhibition of Mitochondrial Oxidative Stress, Remodeling of Usp4-Mediated Deubiquitination, and Stabilization of Pparα.
19. Functional Imaging of Mitochondria in Saponin-Permeabilized Mice Muscle Fibers
20. The Fate of Oxidative Strand Breaks in Mitochondrial DNA
21. Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
22. Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures
23. Replication fork rescue in mammalian mitochondria
24. Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
25. Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype
26. Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging
27. Additional file 1 of Secondary structure of the human mitochondrial genome affects formation of deletions
28. Additional file 2 of Secondary structure of the human mitochondrial genome affects formation of deletions
29. Additional file 4 of Secondary structure of the human mitochondrial genome affects formation of deletions
30. Additional file 3 of Secondary structure of the human mitochondrial genome affects formation of deletions
31. Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity–Impairing Genes
32. Hemin inhibits the large conductance potassium channel in brain mitochondria: A putative novel mechanism of neurodegeneration
33. Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis
34. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
35. Linear mitochondrial DNA is rapidly degraded by components of the replication machinery
36. Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
37. Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy
38. A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand
39. Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy
40. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660
41. A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
42. Novel Pathogenic Sequence Variation m.5789T > C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome
43. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
44. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
45. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
46. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
47. Guide to the Pharmacology of Mitochondrial Potassium Channels
48. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants
49. Permeabilized cell and skinned fiber techniques in studies of mitochondrial function in vivo
50. Mitochondriale Fehlfunktion und Anfälle: die neuronale Energiekrise
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.