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67 results on '"John M. Shoffner"'

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1. Concerning 'Triheptanoin vs trioctanoin for long‐chain fatty acid oxidation disorders: A double blinded, randomized controlled trial' by Gillingham et al

2. Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

3. MERRF Classification: Implications for Diagnosis and Clinical Trials

4. Response to Newman et al

5. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

6. Author response: CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism

7. Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression

8. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

9. Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children

10. Oxidative phosphorylation defects and Alzheimer's disease

11. Mechanisms of Mitochondrial Defects in Gulf War Syndrome

12. Oxidative phosphorylation defect associated with primary adrenal insufficiency

13. Insulin resistance associated with maternally inherited diabetes and deafness

14. Use of Transmitochondrial Cybrids To Assign a Complex I Defect to the Mitochondrial DNA-Encoded NADH Dehydrogenase Subunit 6 Gene Mutation at Nucleotide Pair 14459 That Causes Leber Hereditary Optic Neuropathy and Dystonia

15. Novel mitochondrial DNA deletion found in a renal cell carcinoma

16. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

17. Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

18. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

19. Renal amino acid transport in adults with oxidative phosphorylation diseases

20. Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

21. Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

22. Marked Changes in Mitochondrial DNA Deletion Levels in Alzheimer Brains

23. Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

24. Genetic Mapping of Human Heart-Skeletal Muscle Adenine Nucleotide Translocator and Its Relationship to the Facioscapulohumeral Muscular Dystrophy Locus

25. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

26. Diseases resulting from mitochondrial DNA point mutations

27. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations

28. Developmental regression and mitochondrial dysfunction in a child with autism

29. Rod photoreceptor function in children with mitochondrial disorders

30. Oxidative phosphorylation disease diagnosis

31. Mitochondrial myopathy diagnosis

32. Tau pathology in a family with dementia and a P301L mutation in tau

34. Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations

35. Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia

36. Maternal inheritance and the evaluation of oxidative phosphorylation diseases

37. Mitochondrial defects in basal ganglia diseases

38. Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

39. Mitochondrial DNA mutations in human degenerative diseases and aging

40. Rapid and Dramatic Decreases of Cerebral 5-Methyltetrahydrofolate: A Treatable Form of Progressive Neurodegeneration (S28.007)

41. Chronic Progressive External Ophthalmoplegia and Cerebral Folate Defect in a Patient Undergoing Antiretroviral Treatment for HIV: Effects on Mitochondrial Function (P01.264)

42. Detection of Anti-Folate Receptor Antibodies in the Serum and CSF of Cerebral Folate Deficiency Patients (P02.171)

43. Mitochondrial diabetes revisited

44. Mitochondrial DNA mutations in epilepsy and neurological disease

45. Mitochondrial Myopathies: Genetic Aspects

46. Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment

47. Recent advances in mitochondrial genetics

48. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation

49. Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain

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