Page 48 - Read Online
P. 48
Bennett. J Transl Genet Genom 2020;4:36-49 I https://doi.org/10.20517/jtgg.2020.17 Page 47
33. Schrier SA, Falk MJ. Mitochondrial disorders and the eye. Curr Opin Ophthalmol 2011;22:325-31.
34. van Ekeren GJ, Stadhouders AM, Smeitink JA, Sengers RC. A retrospective study of patients with the hereditary syndrome of congenital
cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. Eur J Pediatr 1993;152:255-9.
35. Wallace DC, Shoffner JM, Trounce I, Brown MD, Ballinger SW, et al. Mitochondrial DNA mutations in human degenerative diseases and
aging. Biochim Biophys Acta 1995;1271:141-51.
36. Wells GD, Noseworthy MD, Hamilton J, Tarnopolski M, Tein I. Skeletal muscle metabolic dysfunction in obesity and metabolic syndrome.
Can J Neurol Sci 2008;35:31-40.
37. Fodale V, La Monaca E. Propofol infusion syndrome: an overview of a perplexing disease. Drug Saf 2008;31:293-303.
38. Footitt EJ, Sinha MD, Raiman JA, Dhawan A, Moganasundram S, et al. Mitochondrial disorders and general anaesthesia: a case series and
review. Br J Anaesth 2008;100:436-41.
39. Gurrieri C, Kivela JE, Bojanić K, Gavrilova RH, Flick RP, et al. Anesthetic considerations in mitochondrial encephalomyopathy, lactic
acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth 2011;58:751-63.
40. Papaioannou V, Dragoumanis C, Theodorou V, Pneumatikos I. The propofol infusion ‘syndrome’ in intensive care unit: from
pathophysiology to prophylaxis and treatment. Acta Anaesthesiol Belg 2008;59:79-86.
41. Driessen J, Willems S, Dercksen S, Giele J, van der Staak F, et al. Anesthesia-related morbidity and mortality after surgery for muscle
biopsy in children with mitochondrial defects. Paediatr Anaesth 2007;17:16-21.
42. Abramovich CM, Prayson RA, McMahon JT, Cohen BH. Ultrastructural examination of the axillary skin biopsy in the diagnosis of
metabolic diseases. Hum Pathol 2001;32:649-55.
43. Chow CW, Thorburn DR. Morphological correlates of mitochondrial dysfunction in children. Hum Reprod 2000;15:68-78.
44. Edwards RH, Round JM, Jones DA. Needle biopsy of skeletal muscle: a review of 10 years experience. Muscle Nerve 1983;6:676-83.
45. Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev
Disabil Res Rev 2010;16:129-35.
46. Gropman AL. Neuroimaging in mitochondrial disorders. Neurotherapeutics 2013;10:273-85.
47. Gulati S, Shah T, Menon S, Jayasundar R, Kalra V. Magnetic resonance spectroscopy in pediatric neurology. Indian J Pediatr 2003;70:317-25.
48. Kyriacou K, Kyriakides T. Mitochondrial encephalomyopathies: a review of routine morphological diagnostic methods with emphasis on
the role of electron microscopy. J Submicrosc Cytol Pathol 2006;38:201-8.
49. McCormick E, Place E, Falk MJ. Molecular genetic testing for mitochondrial disease: from one generation to the next. Neurotherapeutics
2013;10:251-61.
50. Micaglio G, Ceccato MB, Trevisan C, Angelini C. Quantitative histopathology in congenital myopathies. Riv Neurol 1987;57:261-8.
51. Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, et al. A case of Kearns-Sayre syndrome showing a constant proportion of deleted
mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 1998;158:106-9.
52. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with
mitochondrial disease. Pediatrics 2004;114:925-31.
53. Suomalainen A. Biomarkers for mitochondrial respiratory chain disorders. J Inherit Metab Dis 2011;34:277-82.
54. Tatke M. Mitochondrial myopathies-clinicopathological features and diagnostic modalities. Indian J Pathol Microbiol 2007;50:467-77.
55. Vallance H. Biochemical approach to the investigation of pediatric mitochondrial disease. Pediatr Dev Pathol 2004;7:633-6.
56. Berardo A, Dimauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010;10:118-26.
57. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000;22:87-97.
58. Meunier B, Fisher N, Ransac S, Mazat JP, Brasseur G. Respiratory complex III dysfunction in humans and the use of yeast as a model
organism to study mitochondrial myopathy and associated diseases. Biochim Biophys Acta 2013;1827:1346-61.
59. Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel
surrogate marker for assessing therapeutic intervention. Blood 2004;103:33-9.
60. Gloerich J, Wevers RA, Smeitink JA, van Engelen BG, van den Heuvel LP. Proteomics approaches to study genetic and metabolic disorders.
J Proteome Res 2007;6:506-12.
61. Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, et al. Mitochondrial myopathy induces a starvation-like response. Hum
Mol Genet 2010;19:3948-58.
62. Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, et al. Mutant mitochondrial helicase Twinkle causes multiple mtDNA
deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A 2005;102:17687-92.
63. Kochelaev BI, Yablokov YV. The beginning of paramagnetic resonance. Singapore: World Scientific Press; 1995.
64. Weil JA, Bolton JR. Electron paramagnetic resonance: elementary theory and practical applications. 2nd ed. New York: Wiley-Interscience;
2007.
65. Hanson G. Biological magnetic resonance 28. High resolution EPR: applications to metalloenzymes and metals in medicine. New York:
Springer; 2009.
66. Hanson G. Biological magnetic resonance 29. Metals in biology:application of high resolution EPR to metalloenzymes. New York:
Springer; 2010.
67. Misra SK. Multifrequency electron paramagnetic resonance: theory and applications. Weinheim (Germany): Wiley VCH; 2011.
68. Misra SK. Multifrequency electron paramagnetic resonance: data and techniques. Weinheim (Germany): Wiley VCH; 2014
69. Bennett B. EPR of cobalt-substituted zinc enzymes. Biological Magnetic Resonance 2010;29:345-70.
70. Antholine WE, Bennett B, Hanson GR. Multifrequency EPR of Cu(II). In: Misra SK, editor. Multifrequency electron paramagnetic
resonance: theory and applications. Weinheim (Germany): Wiley VCH; 2011. pp. 647-718.