51 results on '"Wolfram S"'
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2. Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis
3. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
4. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
5. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
6. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy
7. Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease
8. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
9. Blood–brain barrier dysfunction can contribute to pharmacoresistance of seizures
10. Hemin inhibits the large conductance potassium channel in brain mitochondria: A putative novel mechanism of neurodegeneration
11. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
12. SONOGRAPHY OF THE MEDIAN NERVE IN CMT1A, CMT2A, CMTX, AND HNPP
13. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
14. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
15. Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam
16. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
17. Acute effects of epigallocatechin gallate from green tea on oxidation and tissue incorporation of dietary lipids in mice fed a high-fat diet
18. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
19. Mitochondrial dysfunction in neurological disorders with epileptic phenotypes
20. Mitochondrial involvement in temporal lobe epilepsy
21. Single channel studies of the ATP-regulated potassium channel in brain mitochondria
22. Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase γ
23. BK channel openers inhibit ROS production of isolated rat brain mitochondria
24. Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
25. Subfield-specific Loss of Hippocampal N-acetyl Aspartate in Temporal Lobe Epilepsy
26. Metabolic progression markers of neurodegeneration in the transgenic G93A-SOD1 mouse model of amyotrophic lateral sclerosis
27. In vivo quantification of spinal and bulbar motor neuron degeneration in the G93A-SOD1 transgenic mouse model of ALS by T2 relaxation time and apparent diffusion coefficient
28. Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies—a comment
29. Volumetric Magnetic Resonance Imaging of Functionally Relevant Structural Alterations in Chronic Epilepsy after Pilocarpine-induced Status Epilepticus in Rats
30. Antidiabetic sulphonylureas activate mitochondrial permeability transition in rat skeletal muscle
31. Epigallocatechin gallate attenuates diet-induced obesity in mice by decreasing energy absorption and increasing fat oxidation
32. The Mechanism of Neuroprotection by Topiramate in an Animal Model of Epilepsy
33. Recombination of Human Mitochondrial DNA
34. Hippocampal N-acetyl aspartate levels do not mirror neuronal cell densities in creatine-supplemented epileptic rats
35. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
36. Correlation of Hippocampal Glucose Oxidation Capacity and Interictal FDG-PET in Temporal Lobe Epilepsy
37. Mitochondrial dysfunction in myofibrillar myopathy
38. Expression Pattern of Mitochondrial Respiratory Chain Enzymes in Skeletal Muscle of Patients Harboring the A3243G Point Mutation or Large-Scale Deletions of Mitochondrial DNA
39. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene
40. Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy
41. Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus
42. Differences in flux control and reserve capacity of cytochrome c oxidase (COX) in human skeletal muscle and brain suggest different metabolic effects of mild COX deficiencies
43. Defective Mitochondrial Oxidative Phosphorylation in Myopathies with Tubular Aggregates Originating from Sarcoplasmic Reticulum
44. New Insights into the Metabolic Consequences of Large-Scale mtDNA Deletions: A Quantitative Analysis of Biochemical, Morphological, and Genetic Findings in Human Skeletal Muscle
45. Neurobehavioral Outcome Prediction After Cardiac Surgery: Role of Neurobiochemical Markers of Damage to Neuronal and Glial Brain Tissue
46. Metabolic Consequences of the Cytochrome c Oxidase Deficiency in Brain of Copper-Deficient Movbr Mice
47. Mitochondrial abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis
48. Permeabilized cell and skinned fiber techniques in studies of mitochondrial function in vitro
49. Impaired mitochondrial oxidative phosphorylation in skeletal muscle of the dystrophin-deficient mdx mouse
50. Functional Imaging of Mitochondria in Saponin-permeabilized Mice Muscle Fibers
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