-
1
-
-
33947278405
-
Population prevalence of the MELAS A3243G mutation
-
Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007;7:230-233.
-
(2007)
Mitochondrion
, vol.7
, pp. 230-233
-
-
Manwaring, N.1
Jones, M.M.2
Wang, J.J.3
-
3
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008;83:254-260.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
4
-
-
59749096341
-
Prevalence of mitochondrial 1555A/G mutation in adults of European descent
-
Vandebona H,Mitchell P,Manwaring N, et al. Prevalence of mitochondrial 1555A/G mutation in adults of European descent. N Engl J Med 2009;360:642-644.
-
(2009)
N Engl J Med
, vol.360
, pp. 642-644
-
-
Vandebona, H.1
Mitchell, P.2
Manwaring, N.3
-
5
-
-
77956627297
-
Mitochondrial disease: Recognising more than just the tip of the iceberg
-
Sue CM. Mitochondrial disease: recognising more than just the tip of the iceberg. Med J Aust 2010;193:195-196.
-
(2010)
Med J Aust
, vol.193
, pp. 195-196
-
-
Sue, C.M.1
-
6
-
-
84856171309
-
The genetics of mitochondrial disease
-
Davis RL, Sue CM. The genetics of mitochondrial disease. Semin Neurol 2011;31:519-530.
-
(2011)
Semin Neurol
, vol.31
, pp. 519-530
-
-
Davis, R.L.1
Sue, C.M.2
-
7
-
-
41949098832
-
The in-depth evaluation of suspected mitochondrial disease
-
Haas RH, Parikh S, Falk MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008;94:16-37.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 16-37
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
-
8
-
-
79955701172
-
Biomarkers for mitochondrial respiratory chain disorders
-
Suomalainen A. Biomarkers for mitochondrial respiratory chain disorders. J Inherit Metab Dis 2011;34:277-282.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 277-282
-
-
Suomalainen, A.1
-
9
-
-
33748686764
-
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis
-
Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatr Neurol 2006;35:289-292.
-
(2006)
Pediatr Neurol
, vol.35
, pp. 289-292
-
-
Oglesbee, D.1
Freedenberg, D.2
Kramer, K.A.3
Anderson, B.D.4
Hahn, S.H.5
-
10
-
-
34248401034
-
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis
-
Debray FG, Mitchell GA, Allard P, et al. Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem 2007;53:916-921.
-
(2007)
Clin Chem
, vol.53
, pp. 916-921
-
-
Debray, F.G.1
Mitchell, G.A.2
Allard, P.3
-
11
-
-
80051667626
-
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: A diagnostic study
-
Suomalainen A, Elo JM, Pietilainen KH, et al. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 2011;10:806-818.
-
(2011)
Lancet Neurol
, vol.10
, pp. 806-818
-
-
Suomalainen, A.1
Elo, J.M.2
Pietilainen, K.H.3
-
12
-
-
57349098220
-
Fibroblast growth factor 21 corrects obesity in mice
-
Coskun T, Bina HA, Schneider MA, et al. Fibroblast growth factor 21 corrects obesity in mice. Endocrinology 2008;149:6018-6027.
-
(2008)
Endocrinology
, vol.149
, pp. 6018-6027
-
-
Coskun, T.1
Bina, H.A.2
Ma, S.3
-
13
-
-
77955434383
-
Fibroblast growth factor 21 regulates energy metabolism by activating the AMPK-SIRT1-PGC-1alpha pathway
-
Chau MD, Gao J, Yang Q, Wu Z, Gromada J. Fibroblast growth factor 21 regulates energy metabolism by activating the AMPK-SIRT1-PGC-1alpha pathway. Proc Natl Acad Sci USA 2010;107:12553-12558.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 12553-12558
-
-
Chau, M.D.1
Gao, J.2
Yang, Q.3
Wu, Z.4
Gromada, J.5
-
14
-
-
84875124153
-
Fibroblast growth factor 21 as an emerging metabolic regulator: Clinical perspectives
-
Woo YC, Xu A, Wang Y, Lam KS. Fibroblast growth factor 21 as an emerging metabolic regulator: clinical perspectives. Clin Endocrinol 2013;78:489-496.
-
(2013)
Clin Endocrinol
, vol.78
, pp. 489-496
-
-
Woo, Y.C.1
Xu, A.2
Wang, Y.3
Lam, K.S.4
-
15
-
-
0029763025
-
Respiratory chain encephalomyopathies: A diagnostic classification
-
Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 1996;36:260-267.
-
(1996)
Eur Neurol
, vol.36
, pp. 260-267
-
-
Walker, U.A.1
Collins, S.2
Byrne, E.3
-
16
-
-
0003499344
-
-
Medical Research Council of the United Kingdom Palo Alto: CA Pendragon House
-
Medical Research Council of the United Kingdom. Aids to Examination of the Peripheral Nervous System. Palo Alto: CA Pendragon House; 1978.
-
(1978)
Aids to Examination of the Peripheral Nervous System
-
-
-
17
-
-
84864656760
-
Determination of Cutoff score for a diagnostic test
-
Singh G. Determination of Cutoff score for a diagnostic test. Internet J Lab Med 2007;2.
-
(2007)
Internet J Lab Med
, pp. 2
-
-
Singh, G.1
-
18
-
-
0242629046
-
The diagnostic odds ratio: A single indicator of test performance
-
Glas AS, Lijmer JG, Prins MH, Bonsel GJ, Bossuyt PM. The diagnostic odds ratio: a single indicator of test performance. J Clin Epidemiol 2003;56:1129-1135.
-
(2003)
J Clin Epidemiol
, vol.56
, pp. 1129-1135
-
-
Glas, A.S.1
Lijmer, J.G.2
Prins, M.H.3
Bonsel, G.J.4
Bossuyt, P.M.5
-
19
-
-
48349127924
-
The circulating metabolic regulator FGF21 is induced by prolonged fasting and PPARalpha activation in man
-
Galman C, Lundasen T, Kharitonenkov A, et al. The circulating metabolic regulator FGF21 is induced by prolonged fasting and PPARalpha activation in man. Cell Metab 2008;8:169-174.
-
(2008)
Cell Metab
, vol.8
, pp. 169-174
-
-
Galman, C.1
Lundasen, T.2
Kharitonenkov, A.3
-
20
-
-
48349146527
-
Serum FGF21 levels are increased in obesity and are independently associated with the metabolic syndrome in humans
-
Zhang X, Yeung DC, Karpisek M, et al. Serum FGF21 levels are increased in obesity and are independently associated with the metabolic syndrome in humans. Diabetes 2008;57:1246-1253.
-
(2008)
Diabetes
, vol.57
, pp. 1246-1253
-
-
Zhang, X.1
Yeung, D.C.2
Karpisek, M.3
-
21
-
-
77956276954
-
Daily physical activity, fasting glucose, uric acid, and body mass index are independent factors associated with serum fibroblast growth factor 21 levels
-
Cuevas-Ramos D, Almeda-Valdes P, Gomez-Perez FJ, et al. Daily physical activity, fasting glucose, uric acid, and body mass index are independent factors associated with serum fibroblast growth factor 21 levels. Eur J Endocrinol 2010;163:469-477.
-
(2010)
Eur J Endocrinol
, vol.163
, pp. 469-477
-
-
Cuevas-Ramos, D.1
Almeda-Valdes, P.2
Gomez-Perez, F.J.3
-
22
-
-
51649118899
-
Plasma concentrations of fibroblast growth factors 19 and 21 in patients with anorexia nervosa
-
Dostalova I, Kavalkova P, Haluzikova D, et al. Plasma concentrations of fibroblast growth factors 19 and 21 in patients with anorexia nervosa. J Clin Endocrinol Metab 2008;93:3627-3632.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3627-3632
-
-
Dostalova, I.1
Kavalkova, P.2
Haluzikova, D.3
-
23
-
-
75149195216
-
Fibroblast growth factor-21 may mediate growth hormone resistance in anorexia nervosa
-
Fazeli PK, Misra M, Goldstein M, Miller KK, Klibanski A. Fibroblast growth factor-21 may mediate growth hormone resistance in anorexia nervosa. J Clin Endocrinol Metab 2010;95:369-374.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 369-374
-
-
Fazeli, P.K.1
Misra, M.2
Goldstein, M.3
Miller, K.K.4
Klibanski, A.5
-
24
-
-
84872057896
-
Autophagy deficiency leads to protection from obesity and insulin resistance by inducing Fgf21 as a mitokine
-
Kim KH, Jeong YT, Oh H, et al. Autophagy deficiency leads to protection from obesity and insulin resistance by inducing Fgf21 as a mitokine. Nat Med 2013;19: 83-92.
-
(2013)
Nat Med
, vol.19
, pp. 83-92
-
-
Kim, K.H.1
Jeong, Y.T.2
Oh, H.3
-
25
-
-
84870568785
-
Circulating fibroblast growth factors as metabolic regulators: A critical appraisal
-
Angelin B, Larsson TE, Rudling M. Circulating fibroblast growth factors as metabolic regulators: a critical appraisal. Cell Metab 2012;16:693-705.
-
(2012)
Cell Metab
, vol.16
, pp. 693-705
-
-
Angelin, B.1
Larsson, T.E.2
Rudling, M.3
|