-
2
-
-
2942562564
-
Mitochondrial disorders: Prevalence, myths and advances
-
Thorburn, D. R. Mitochondrial disorders: prevalence, myths and advances. J. Inherit. Metab. Dis. 27, 349-362 (2004).
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 349-362
-
-
Thorburn, D.R.1
-
3
-
-
84901933198
-
Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: Toward mitochondria-targeted clinical strategies
-
Pagano, G. et al. Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies. Oxid. Med. Cell. Longev. 2014, 541230 (2014).
-
(2014)
Oxid. Med. Cell. Longev.
, vol.2014
, pp. 541230
-
-
Pagano, G.1
-
4
-
-
33947327738
-
Mitochondrial function and endocrine diseases
-
ESCI Award 2006
-
Stark, R. & Roden, M. ESCI Award 2006. Mitochondrial function and endocrine diseases. Eur. J. Clin. Invest. 37, 236-248 (2007).
-
(2007)
Eur. J. Clin. Invest.
, vol.37
, pp. 236-248
-
-
Stark, R.1
Roden, M.2
-
5
-
-
84884530635
-
Steroid hormone synthesis in mitochondria
-
Miller, W. L. Steroid hormone synthesis in mitochondria. Mol. Cell. Endocrinol. 379, 62-73 (2013).
-
(2013)
Mol. Cell. Endocrinol.
, vol.379
, pp. 62-73
-
-
Miller, W.L.1
-
6
-
-
84979518589
-
MitoCarta2.0: An updated inventory of mammalian mitochondrial proteins
-
Calvo, S. E., Clauser, K. R. & Mootha, V. K. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 44, D1251-D1257 (2016).
-
(2016)
Nucleic Acids Res.
, vol.44
, pp. D1251-D1257
-
-
Calvo, S.E.1
Clauser, K.R.2
Mootha, V.K.3
-
7
-
-
84958018431
-
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies
-
Kohda, M. et al. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 12, e1005679 (2016).
-
(2016)
PLoS Genet.
, vol.12
, pp. e1005679
-
-
Kohda, M.1
-
8
-
-
84871565767
-
Universal heteroplasmy of human mitochondrial DNA
-
Payne, B. A. et al. Universal heteroplasmy of human mitochondrial DNA. Hum. Mol. Genet. 22, 384-390 (2013).
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 384-390
-
-
Payne, B.A.1
-
9
-
-
84884534402
-
Endocrine disorders in mitochondrial disease
-
Schaefer, A. M., Walker, M., Turnbull, D. M. & Taylor, R. W. Endocrine disorders in mitochondrial disease. Mol. Cell. Endocrinol. 379, 2-11 (2013).
-
(2013)
Mol. Cell. Endocrinol.
, vol.379
, pp. 2-11
-
-
Schaefer, A.M.1
Walker, M.2
Turnbull, D.M.3
Taylor, R.W.4
-
10
-
-
78651322531
-
Specific metabolic rates of major organs and tissues across adulthood: Evaluation by mechanistic model of resting energy expenditure
-
Wang, Z. et al. Specific metabolic rates of major organs and tissues across adulthood: evaluation by mechanistic model of resting energy expenditure. Am. J. Clin. Nutr. 92, 1369-1377 (2010).
-
(2010)
Am. J. Clin. Nutr.
, vol.92
, pp. 1369-1377
-
-
Wang, Z.1
-
11
-
-
0027751319
-
Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies
-
Shiraiwa, N. et al. Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies. J. Neurol. Sci. 120, 174-179 (1993).
-
(1993)
J. Neurol. Sci.
, vol.120
, pp. 174-179
-
-
Shiraiwa, N.1
-
12
-
-
44849139534
-
A functionally dominant mitochondrial DNA mutation
-
Sacconi, S. et al. A functionally dominant mitochondrial DNA mutation. Hum. Mol. Genet. 17, 1814-1820 (2008).
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1814-1820
-
-
Sacconi, S.1
-
13
-
-
0029778849
-
Clinical presentation of mitochondrial disorders in childhood
-
Munnich, A. et al. Clinical presentation of mitochondrial disorders in childhood. J. Inherit. Metab. Dis. 19, 521-527 (1996).
-
(1996)
J. Inherit. Metab. Dis.
, vol.19
, pp. 521-527
-
-
Munnich, A.1
-
14
-
-
84939935465
-
Paediatric single mitochondrial DNA deletion disorders: An overlapping spectrum of disease
-
Broomfield, A. et al. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J. Inherit. Metab. Dis. 38, 445-457 (2015).
-
(2015)
J. Inherit. Metab. Dis.
, vol.38
, pp. 445-457
-
-
Broomfield, A.1
-
15
-
-
0026585685
-
Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia
-
Quade, A., Zierz, S. & Klingmuller, D. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin. Investig. 70, 396-402 (1992).
-
(1992)
Clin. Investig.
, vol.70
, pp. 396-402
-
-
Quade, A.1
Zierz, S.2
Klingmuller, D.3
-
16
-
-
79953211019
-
-
(eds Pagon, R. A. et al) (University of Washington, Seattle, 1993-2016)
-
DiMauro, S. & Hirano, M. Mitochondrial DNA Deletion Syndromes in GeneReviews (eds Pagon, R. A. et al) (University of Washington, Seattle, 1993-2016).
-
Mitochondrial DNA Deletion Syndromes in GeneReviews
-
-
DiMauro, S.1
Hirano, M.2
-
17
-
-
34047219863
-
Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure
-
Sanaker, P. S., Husebye, E. S., Fondenes, O. & Bindoff, L. A. Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurol. Scand. Suppl. 187, 64-67 (2007).
-
(2007)
Acta Neurol. Scand. Suppl.
, vol.187
, pp. 64-67
-
-
Sanaker, P.S.1
Husebye, E.S.2
Fondenes, O.3
Bindoff, L.A.4
-
18
-
-
84884535368
-
Mitochondrial function and insulin secretion
-
Maechler, P. Mitochondrial function and insulin secretion. Mol. Cell. Endocrinol. 379, 12-18 (2013).
-
(2013)
Mol. Cell. Endocrinol.
, vol.379
, pp. 12-18
-
-
Maechler, P.1
-
19
-
-
0842285626
-
Mitochondrial diabetes: Molecular mechanisms and clinical presentation
-
Maassen, J. A. et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53 (Suppl. 1), S103-S109 (2004).
-
(2004)
Diabetes
, vol.53
, pp. S103-S109
-
-
Maassen, J.A.1
-
20
-
-
84879908941
-
The UK MRC Mitochondrial Disease Patient Cohort Study: Clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management
-
Nesbitt, V. et al. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management. J. Neurol. Neurosurg. Psychiatry 84, 936-938 (2013).
-
(2013)
J. Neurol. Neurosurg. Psychiatry
, vol.84
, pp. 936-938
-
-
Nesbitt, V.1
-
21
-
-
0034866479
-
Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: Prevalence and clinical phenotypes in Japan
-
Ohkubo, K. et al. Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: prevalence and clinical phenotypes in Japan. Clin. Chem. 47, 1641-1648 (2001).
-
(2001)
Clin. Chem.
, vol.47
, pp. 1641-1648
-
-
Ohkubo, K.1
-
22
-
-
41749086664
-
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation
-
Murphy, R., Turnbull, D. M., Walker, M. & Hattersley, A. T. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet. Med. 25, 383-399 (2008).
-
(2008)
Diabet. Med.
, vol.25
, pp. 383-399
-
-
Murphy, R.1
Turnbull, D.M.2
Walker, M.3
Hattersley, A.T.4
-
23
-
-
0028891842
-
Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene
-
Kishimoto, M. et al. Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetologia 38, 193-200 (1995).
-
(1995)
Diabetologia
, vol.38
, pp. 193-200
-
-
Kishimoto, M.1
-
24
-
-
84921503893
-
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes
-
Karaa, A. & Goldstein, A. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes. Pediatr. Diabetes 16, 1-9 (2015).
-
(2015)
Pediatr. Diabetes
, vol.16
, pp. 1-9
-
-
Karaa, A.1
Goldstein, A.2
-
25
-
-
34548501271
-
Prevalence and progression of diabetes in mitochondrial disease
-
Whittaker, R. G. et al. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 50, 2085-2089 (2007).
-
(2007)
Diabetologia
, vol.50
, pp. 2085-2089
-
-
Whittaker, R.G.1
-
26
-
-
84879495511
-
Phenotypic heterogeneity of the 8344A>G mtDNA "mERRF" mutation
-
Mancuso, M. et al. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 80, 2049-2054 (2013).
-
(2013)
Neurology
, vol.80
, pp. 2049-2054
-
-
Mancuso, M.1
-
27
-
-
77952938719
-
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease
-
Hopkins, S. E., Somoza, A. & Gilbert, D. L. Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. J. Child Neurol. 25, 752-756 (2010).
-
(2010)
J. Child Neurol.
, vol.25
, pp. 752-756
-
-
Hopkins, S.E.1
Somoza, A.2
Gilbert, D.L.3
-
28
-
-
84871184173
-
MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions
-
Garone, C. et al. MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial dna deletions. Arch. Neurol. 69, 1648-1651 (2012).
-
(2012)
Arch. Neurol.
, vol.69
, pp. 1648-1651
-
-
Garone, C.1
-
29
-
-
0033569992
-
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate
-
Janssen, G. M., Maassen, J. A. & van Den Ouweland, J. M. The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. J. Biol. Chem. 274, 29744-29748 (1999).
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 29744-29748
-
-
Janssen, G.M.1
Maassen, J.A.2
Van Den Ouweland, J.M.3
-
30
-
-
33751274538
-
Mitochondrial diabetes and its lessons for common type 2 diabetes
-
Maassen, J. A. et al. Mitochondrial diabetes and its lessons for common type 2 diabetes. Biochem. Soc. Trans. 34, 819-823 (2006).
-
(2006)
Biochem. Soc. Trans.
, vol.34
, pp. 819-823
-
-
Maassen, J.A.1
-
31
-
-
84911454067
-
Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation
-
El-Hattab, A. W. et al. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion 18, 63-69 (2014).
-
(2014)
Mitochondrion
, vol.18
, pp. 63-69
-
-
El-Hattab, A.W.1
-
32
-
-
82955227398
-
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content
-
Lindroos, M. M. et al. Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content. J. Inherit. Metab. Dis. 34, 1205-1212 (2011).
-
(2011)
J. Inherit. Metab. Dis.
, vol.34
, pp. 1205-1212
-
-
Lindroos, M.M.1
-
33
-
-
70350043496
-
Abnormal hepatic energy homeostasis in type 2 diabetes
-
Szendroedi, J. et al. Abnormal hepatic energy homeostasis in type 2 diabetes. Hepatology 50, 1079-1086 (2009).
-
(2009)
Hepatology
, vol.50
, pp. 1079-1086
-
-
Szendroedi, J.1
-
34
-
-
0035341093
-
Maternally inherited diabetes and deafness: A multicenter study
-
Guillausseau, P. J. et al. Maternally inherited diabetes and deafness: a multicenter study. Ann. Intern. Med. 134, 721-728 (2001).
-
(2001)
Ann. Intern. Med.
, vol.134
, pp. 721-728
-
-
Guillausseau, P.J.1
-
35
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
Rötig, A. et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J. Clin. Invest. 86, 1601-1608 (1990).
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 1601-1608
-
-
Rötig, A.1
-
36
-
-
84862794514
-
Pearson syndrome: Unique endocrine manifestations including neonatal diabetes and adrenal insufficiency
-
Williams, T. B. et al. Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. Mol. Genet. Metab. 106, 104-107 (2012).
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 104-107
-
-
Williams, T.B.1
-
37
-
-
0027310104
-
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA
-
Superti-Furga, A. et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. Eur. J. Pediatr. 152, 44-50 (1993).
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 44-50
-
-
Superti-Furga, A.1
-
38
-
-
0027527050
-
Pearson's marrow/pancreas syndrome: A histological and genetic study
-
Morikawa, Y. et al. Pearson's marrow/pancreas syndrome: a histological and genetic study. Virchows Arch. A Pathol. Anat. Histopathol. 423, 227-231 (1993).
-
(1993)
Virchows Arch. A Pathol. Anat. Histopathol.
, vol.423
, pp. 227-231
-
-
Morikawa, Y.1
-
39
-
-
0029555845
-
Diabetes mellitus in Kearns-Sayre syndrome: A case with a 10-year follow-up
-
Franzese, A., Del Giudice, E., Santoro, L., De Filippo, G. & Argenziano, A. Diabetes mellitus in Kearns-Sayre syndrome: a case with a 10-year follow-up. Diabetes Res. Clin. Pract. 30, 233-235 (1995).
-
(1995)
Diabetes Res. Clin. Pract.
, vol.30
, pp. 233-235
-
-
Franzese, A.1
Del Giudice, E.2
Santoro, L.3
De Filippo, G.4
Argenziano, A.5
-
40
-
-
84905163172
-
Diabetes in pediatric patients with Kearns-Sayre syndrome: Clinical presentation of 2 cases and a review of pathophysiology
-
Ho, J., Pacaud, D., Rakic, M. & Khan, A. Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. Can. J. Diabetes 38, 225-228 (2014).
-
(2014)
Can. J. Diabetes
, vol.38
, pp. 225-228
-
-
Ho, J.1
Pacaud, D.2
Rakic, M.3
Khan, A.4
-
41
-
-
84859430997
-
MELAS: A nationwide prospective cohort study of 96 patients in Japan
-
Yatsuga, S. et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim. Biophys. Acta 1820, 619-624 (2012).
-
(2012)
Biochim. Biophys. Acta
, vol.1820
, pp. 619-624
-
-
Yatsuga, S.1
-
42
-
-
0029796530
-
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion
-
Isotani, H. et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin. Endocrinol. (Oxf.) 45, 637-641 (1996).
-
(1996)
Clin. Endocrinol. (Oxf.)
, vol.45
, pp. 637-641
-
-
Isotani, H.1
-
43
-
-
2642536829
-
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)
-
Guillausseau, P. J. et al. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). Diabetes Metab. 30, 181-186 (2004).
-
(2004)
Diabetes Metab.
, vol.30
, pp. 181-186
-
-
Guillausseau, P.J.1
-
44
-
-
0034521838
-
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness
-
van Essen, E. H. et al. HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness. Diabet. Med. 17, 841-847 (2000).
-
(2000)
Diabet. Med.
, vol.17
, pp. 841-847
-
-
Van Essen, E.H.1
-
45
-
-
0141971998
-
Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
-
Majamaa-Voltti, K., Peuhkurinen, K., Kortelainen, M. L., Hassinen, I. E. & Majamaa, K. Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G. BMC Cardiovasc. Disord. 2, 12 (2002).
-
(2002)
BMC Cardiovasc. Disord.
, vol.2
, pp. 12
-
-
Majamaa-Voltti, K.1
Peuhkurinen, K.2
Kortelainen, M.L.3
Hassinen, I.E.4
Majamaa, K.5
-
46
-
-
1842863495
-
Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation: Assessment by heart rate variability
-
Momiyama, Y. et al. Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation: assessment by heart rate variability. Diabetes Care 25, 2308-2313 (2002).
-
(2002)
Diabetes Care
, vol.25
, pp. 2308-2313
-
-
Momiyama, Y.1
-
47
-
-
85088173556
-
Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes
-
Momiyama, Y. et al. Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes. Diabetes Care 24, 604-605 (2001).
-
(2001)
Diabetes Care
, vol.24
, pp. 604-605
-
-
Momiyama, Y.1
-
48
-
-
84954397388
-
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
-
Wahbi, K. et al. Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur. Heart J. 36, 2886-2860 (2015).
-
(2015)
Eur. Heart J.
, vol.36
, pp. 2860-2886
-
-
Wahbi, K.1
-
49
-
-
34347346156
-
The thiazolidinedione pioglitazone alters mitochondrial function in human neuron-like cells
-
Ghosh, S. et al. The thiazolidinedione pioglitazone alters mitochondrial function in human neuron-like cells. Mol. Pharmacol. 71, 1695-1702 (2007).
-
(2007)
Mol. Pharmacol.
, vol.71
, pp. 1695-1702
-
-
Ghosh, S.1
-
50
-
-
12144291275
-
Thiazolidinediones, like metformin, inhibit respiratory complex I: A common mechanism contributing to their antidiabetic actions?
-
Brunmair, B. et al. Thiazolidinediones, like metformin, inhibit respiratory complex I: a common mechanism contributing to their antidiabetic actions? Diabetes 53, 1052-1059 (2004).
-
(2004)
Diabetes
, vol.53
, pp. 1052-1059
-
-
Brunmair, B.1
-
51
-
-
59149103480
-
Abnormal growth in mitochondrial disease
-
Wolny, S., McFarland, R., Chinnery, P. & Cheetham, T. Abnormal growth in mitochondrial disease. Acta Paediatr. 98, 553-554 (2009).
-
(2009)
Acta Paediatr.
, vol.98
, pp. 553-554
-
-
Wolny, S.1
McFarland, R.2
Chinnery, P.3
Cheetham, T.4
-
52
-
-
84879796991
-
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease
-
Pitceathly, R. D. et al. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep. 3, 1795-1805 (2013).
-
(2013)
Cell Rep.
, vol.3
, pp. 1795-1805
-
-
Pitceathly, R.D.1
-
53
-
-
84890400158
-
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood
-
Pitceathly, R. D. et al. COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. JAMA Neurol. 70, 1556-1561 (2013).
-
(2013)
JAMA Neurol.
, vol.70
, pp. 1556-1561
-
-
Pitceathly, R.D.1
-
54
-
-
84879821890
-
SURF1 deficiency: A multi-centre natural history study
-
Wedatilake, Y. et al. SURF1 deficiency: a multi-centre natural history study. Orphanet J. Rare Dis. 8, 96 (2013).
-
(2013)
Orphanet J. Rare Dis.
, vol.8
, pp. 96
-
-
Wedatilake, Y.1
-
55
-
-
79951810965
-
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
-
Debray, F. G. et al. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J. Med. Genet. 48, 183-189 (2011).
-
(2011)
J. Med. Genet.
, vol.48
, pp. 183-189
-
-
Debray, F.G.1
-
56
-
-
0017338735
-
Lumping or splitting? "ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann
-
Berenberg, R. A. et al. Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann. Neurol. 1, 37-54 (1977).
-
(1977)
Neurol.
, vol.1
, pp. 37-54
-
-
Berenberg, R.A.1
-
57
-
-
0026773036
-
Endocrine dysfunction in Kearns-Sayre syndrome
-
Harvey, J. N. & Barnett, D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin. Endocrinol. (Oxf.) 37, 97-103 (1992).
-
(1992)
Clin. Endocrinol. (Oxf.)
, vol.37
, pp. 97-103
-
-
Harvey, J.N.1
Barnett, D.2
-
58
-
-
0036823029
-
Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
Matsuzaki, M., Izumi, T. , Shishikura, K., Suzuki, H. & Hirayama, Y. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Neuropediatrics 33, 271-273 (2002).
-
(2002)
Neuropediatrics
, vol.33
, pp. 271-273
-
-
Matsuzaki, M.1
Izumi, T.2
Shishikura, K.3
Suzuki, H.4
Hirayama, Y.5
-
59
-
-
6844249406
-
A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction
-
Joko, T. et al. A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. Endocr. J. 44, 805-809 (1997).
-
(1997)
Endocr. J.
, vol.44
, pp. 805-809
-
-
Joko, T.1
-
60
-
-
0025858316
-
Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS
-
(in Japanese)
-
Matsuzaki, M. et al. [Hypothalamic GH Deficiency and gelastic seizures in a 10-year-old girl with MELAS]. No To Hattatsu 23, 411-416 (in Japanese) (1991).
-
(1991)
No to Hattatsu
, vol.23
, pp. 411-416
-
-
Matsuzaki, M.1
-
61
-
-
19144371422
-
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation
-
Yorifuji, T. et al. Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. J. Med. Genet. 33, 621-622 (1996).
-
(1996)
J. Med. Genet.
, vol.33
, pp. 621-622
-
-
Yorifuji, T.1
-
62
-
-
0034522769
-
Endocrine disorders in two sisters affected by MELAS syndrome
-
Balestri, P. & Grosso, S. Endocrine disorders in two sisters affected by MELAS syndrome. J. Child Neurol. 15, 755-758 (2000).
-
(2000)
J. Child Neurol.
, vol.15
, pp. 755-758
-
-
Balestri, P.1
Grosso, S.2
-
63
-
-
84891775951
-
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome
-
Berio, A. & Piazzi, A. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. Pediatr. Med. Chir. 35, 137-140 (2013).
-
(2013)
Pediatr. Med. Chir.
, vol.35
, pp. 137-140
-
-
Berio, A.1
Piazzi, A.2
-
64
-
-
84873975828
-
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: A late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment
-
Obara-Moszynska, M. et al. A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. BMC Pediatr. 13, 27 (2013).
-
(2013)
BMC Pediatr.
, vol.13
, pp. 27
-
-
Obara-Moszynska, M.1
-
65
-
-
33846270306
-
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
-
Cassandrini, D. et al. Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J. Child Neurol. 21, 983-985 (2006).
-
(2006)
J. Child Neurol.
, vol.21
, pp. 983-985
-
-
Cassandrini, D.1
-
66
-
-
0031970816
-
Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy
-
Gucuyener, K., Seyrantepe, V., Topaloglu, H. & Ozguc, M. Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy. J. Inherit. Metab. Dis. 21, 173-174 (1998).
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 173-174
-
-
Gucuyener, K.1
Seyrantepe, V.2
Topaloglu, H.3
Ozguc, M.4
-
67
-
-
84941048139
-
Growth hormone deficiency in a patient with mitochondrial disease
-
Rocha, V., Rocha, D., Santos, H. & Marques, J. S. Growth hormone deficiency in a patient with mitochondrial disease. J. Pediatr. Endocrinol. Metab. 28, 1003-1004 (2015).
-
(2015)
J. Pediatr. Endocrinol. Metab.
, vol.28
, pp. 1003-1004
-
-
Rocha, V.1
Rocha, D.2
Santos, H.3
Marques, J.S.4
-
68
-
-
0020046729
-
Growth hormone deficiency in mitochondrial cytopathy
-
Burns, E. C., Preece, M. A., Cameron, N. & Tanner, J. M. Growth hormone deficiency in mitochondrial cytopathy. Acta Paediatr. Scand. 71, 693-697 (1982).
-
(1982)
Acta Paediatr. Scand.
, vol.71
, pp. 693-697
-
-
Burns, E.C.1
Preece, M.A.2
Cameron, N.3
Tanner, J.M.4
-
69
-
-
38049056613
-
Variable outcome of growth hormone administration in respiratory chain deficiency
-
Romano, S. et al. Variable outcome of growth hormone administration in respiratory chain deficiency. Mol. Genet. Metab. 93, 195-199 (2008).
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 195-199
-
-
Romano, S.1
-
70
-
-
84917692573
-
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
-
Schwartzentruber, J. et al. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum. Mutat. 35, 1285-1289 (2014).
-
(2014)
Hum. Mutat.
, vol.35
, pp. 1285-1289
-
-
Schwartzentruber, J.1
-
71
-
-
84894464663
-
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
-
Haack, T. B. et al. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111 , 342-352 (2014).
-
(2014)
Mol. Genet. Metab.
, vol.111
, pp. 342-352
-
-
Haack, T.B.1
-
72
-
-
84958875263
-
Homozygous p. V116∗ mutation in C12orf65 results in Leigh syndrome
-
Imagawa, E. et al. Homozygous p. V116∗ mutation in C12orf65 results in Leigh syndrome. J. Neurol. Neurosurg. Psychiatry 87, 212-216 (2016).
-
(2016)
J. Neurol. Neurosurg. Psychiatry
, vol.87
, pp. 212-216
-
-
Imagawa, E.1
-
73
-
-
4644340445
-
Long-term growth hormone therapy in mitochondrial cytopathy
-
Barberi, S., Bozzola, E., Berardinelli, A., Meazza, C. & Bozzola, M. Long-term growth hormone therapy in mitochondrial cytopathy. Horm. Res. 62, 103-106 (2004).
-
(2004)
Horm. Res.
, vol.62
, pp. 103-106
-
-
Barberi, S.1
Bozzola, E.2
Berardinelli, A.3
Meazza, C.4
Bozzola, M.5
-
74
-
-
0034450209
-
Kearns-Sayre syndrome with GH deficiency
-
(in Italian)
-
Berio, A. & Piazzi, A. [Kearns-Sayre syndrome with GH deficiency]. Pediatr. Med. Chir. 22, 43-46 (in Italian) (2000).
-
(2000)
Pediatr. Med. Chir.
, vol.22
, pp. 43-46
-
-
Berio, A.1
Piazzi, A.2
-
75
-
-
70350239855
-
A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome
-
Yau, E. K., Chan, K. Y., Au, K. M., Chow, T. C. & Chan, Y. W. A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome. Hong Kong Med. J. 15, 374-377 (2009).
-
(2009)
Hong Kong Med. J.
, vol.15
, pp. 374-377
-
-
Yau, E.K.1
Chan, K.Y.2
Au, K.M.3
Chow, T.C.4
Chan, Y.W.5
-
76
-
-
0036598227
-
Genetic causes of human reproductive disease
-
Achermann, J. C., Ozisik, G., Meeks, J. J. & Jameson, J. L. Genetic causes of human reproductive disease. J. Clin. Endocrinol. Metab. 87, 2447-2454 (2002).
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 2447-2454
-
-
Achermann, J.C.1
Ozisik, G.2
Meeks, J.J.3
Jameson, J.L.4
-
77
-
-
81855211988
-
Early steps in steroidogenesis: Intracellular cholesterol trafficking
-
Miller, W. L. & Bose, H. S. Early steps in steroidogenesis: intracellular cholesterol trafficking. J. Lipid Res. 52, 2111-2135 (2011).
-
(2011)
J. Lipid Res.
, vol.52
, pp. 2111-2135
-
-
Miller, W.L.1
Bose, H.S.2
-
78
-
-
0029166363
-
Gonadal dysfunction in mitochondrial encephalomyopathies
-
Chen, C. M. & Huang, C. C. Gonadal dysfunction in mitochondrial encephalomyopathies. Eur. Neurol. 35, 281-286 (1995).
-
(1995)
Eur. Neurol.
, vol.35
, pp. 281-286
-
-
Chen, C.M.1
Huang, C.C.2
-
79
-
-
0027078196
-
Hypothalamic amenorrhea in a case of mitochondrial encephalomyopathy
-
Chen, C. M. et al. Hypothalamic amenorrhea in a case of mitochondrial encephalomyopathy. J. Formos. Med. Assoc. 91, 1195-1199 (1992).
-
(1992)
J. Formos. Med. Assoc.
, vol.91
, pp. 1195-1199
-
-
Chen, C.M.1
-
80
-
-
34247126028
-
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
-
Carod-Artal, F. J. et al. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur. J. Neurol. 14, 581-585 (2007).
-
(2007)
Eur. J. Neurol.
, vol.14
, pp. 581-585
-
-
Carod-Artal, F.J.1
-
81
-
-
0031904289
-
Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies
-
Ohkoshi, N., Ishii, A., Shiraiwa, N., Shoji, S. & Yoshizawa, K. Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. J. Med. 29, 13-29 (1998).
-
(1998)
J. Med.
, vol.29
, pp. 13-29
-
-
Ohkoshi, N.1
Ishii, A.2
Shiraiwa, N.3
Shoji, S.4
Yoshizawa, K.5
-
82
-
-
67649409167
-
Recessive twinkle mutations cause severe epileptic encephalopathy
-
Lonnqvist, T. , Paetau, A., Valanne, L. & Pihko, H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 132, 1553-1562 (2009).
-
(2009)
Brain
, vol.132
, pp. 1553-1562
-
-
Lonnqvist, T.1
Paetau, A.2
Valanne, L.3
Pihko, H.4
-
83
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: Clinical and molecular genetic study
-
Luoma, P. et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364, 875-882 (2004).
-
(2004)
Lancet
, vol.364
, pp. 875-882
-
-
Luoma, P.1
-
84
-
-
33749038700
-
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
-
Pagnamenta, A. T. et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum. Reprod. 21, 2467-2473 (2006).
-
(2006)
Hum. Reprod.
, vol.21
, pp. 2467-2473
-
-
Pagnamenta, A.T.1
-
85
-
-
72449155684
-
The unfolding clinical spectrum of POLG mutations
-
Blok, M. J. et al. The unfolding clinical spectrum of POLG mutations. J. Med. Genet. 46, 776-785 (2009).
-
(2009)
J. Med. Genet.
, vol.46
, pp. 776-785
-
-
Blok, M.J.1
-
86
-
-
84864859207
-
A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): Hypergonadotropic hypogonadism
-
Kalkan, I. H. et al. A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism. Hormones (Athens) 11 , 377-379 (2012).
-
(2012)
Hormones (Athens)
, vol.11
, pp. 377-379
-
-
Kalkan, I.H.1
-
87
-
-
10744223145
-
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
-
Gironi, M. et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 62, 818-820 (2004).
-
(2004)
Neurology
, vol.62
, pp. 818-820
-
-
Gironi, M.1
-
88
-
-
84926473253
-
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
-
Menezes, M. J. et al. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Hum. Mol. Genet. 24, 2297-2307 (2015).
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 2297-2307
-
-
Menezes, M.J.1
-
89
-
-
84903955232
-
Novel (ovario) leukodystrophy related to AARS2 mutations
-
Dallabona, C. et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-2071 (2014).
-
(2014)
Neurology
, vol.82
, pp. 2063-2071
-
-
Dallabona, C.1
-
90
-
-
84863606022
-
POLG mutations and age at menopause
-
Duncan, A. J., Knight, J. A., Costello, H., Conway, G. S. & Rahman, S. POLG mutations and age at menopause. Hum. Reprod. 27, 2243-2244 (2012).
-
(2012)
Hum. Reprod.
, vol.27
, pp. 2243-2244
-
-
Duncan, A.J.1
Knight, J.A.2
Costello, H.3
Conway, G.S.4
Rahman, S.5
-
91
-
-
78650187765
-
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency
-
Tong, Z. B. et al. Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency. Fertil. Steril. 94, 2932-2934 (2010).
-
(2010)
Fertil. Steril.
, vol.94
, pp. 2932-2934
-
-
Tong, Z.B.1
-
92
-
-
0027200399
-
Human ovarian aging and mitochondrial DNA deletion
-
Suganuma, N., Kitagawa, T. , Nawa, A. & Tomoda, Y. Human ovarian aging and mitochondrial DNA deletion. Horm. Res. 39 (Suppl. 1), 16-21 (1993).
-
(1993)
Horm. Res.
, vol.39
, pp. 16-21
-
-
Suganuma, N.1
Kitagawa, T.2
Nawa, A.3
Tomoda, Y.4
-
93
-
-
33846024372
-
Mitochondrial DNA in the oocyte and the developing embryo
-
May-Panloup, P. , Chretien, M. F., Malthiery, Y. & Reynier, P. Mitochondrial DNA in the oocyte and the developing embryo. Curr. Top. Dev. Biol. 77, 51-83 (2007).
-
(2007)
Curr. Top. Dev. Biol.
, vol.77
, pp. 51-83
-
-
May-Panloup, P.1
Chretien, M.F.2
Malthiery, Y.3
Reynier, P.4
-
94
-
-
84871878032
-
The aging oocyte-can mitochondrial function be improved? Fertil
-
Bentov, Y. & Casper, R. F. The aging oocyte-can mitochondrial function be improved? Fertil. Steril. 99, 18-22 (2013).
-
(2013)
Steril.
, vol.99
, pp. 18-22
-
-
Bentov, Y.1
Casper, R.F.2
-
95
-
-
84941886627
-
Increased incidence of mitochondrial cytochrome C oxidase 1 gene mutations in patients with primary ovarian insufficiency
-
Zhen, X. et al. Increased incidence of mitochondrial cytochrome C oxidase 1 gene mutations in patients with primary ovarian insufficiency. PLoS ONE 10, e0132610 (2015).
-
(2015)
PLoS ONE
, vol.10
, pp. e0132610
-
-
Zhen, X.1
-
96
-
-
84902345908
-
Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation
-
Mukai, M. et al. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation]. Rinsho Shinkeigaku 54, 417-422 (2014)
-
(2014)
Rinsho Shinkeigaku
, vol.54
, pp. 417-422
-
-
Mukai, M.1
-
97
-
-
79955634426
-
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
-
Pierce, S. B. et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc. Natl. Acad. Sci. USA 108, 6543-6548 (2011).
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 6543-6548
-
-
Pierce, S.B.1
-
98
-
-
84962706770
-
Expanding the genotypic spectrum of perrault syndrome
-
Demain, L. A. et al. Expanding the genotypic spectrum of perrault syndrome. Clin. Genet. http://dx.doi. org/10.1111/cge.12776 (2016).
-
(2016)
Clin. Genet.
-
-
Demain, L.A.1
-
99
-
-
84941146214
-
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
-
Morino, H. et al. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology 83, 2054-2061 (2014).
-
(2014)
Neurology
, vol.83
, pp. 2054-2061
-
-
Morino, H.1
-
100
-
-
84929996355
-
-
(eds Pagon, R. A. et al.) (University of Washington, Seattle
-
Newman, W. G., Friedman, T. B. & Conway, G. S. Perrault Syndrome in GeneReviews (eds Pagon, R. A. et al.) (University of Washington, Seattle, 1993-2016).
-
(1993)
Perrault Syndrome in GeneReviews
-
-
Newman, W.G.1
Friedman, T.B.2
Conway, G.S.3
-
101
-
-
84875944446
-
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
-
Pierce, S. B. et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am. J. Hum. Genet. 92, 614-620 (2013).
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 614-620
-
-
Pierce, S.B.1
-
102
-
-
84875944287
-
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
-
Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am. J. Hum. Genet. 92, 605-613 (2013).
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 605-613
-
-
Jenkinson, E.M.1
-
103
-
-
84929995332
-
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3
-
Ahmed, S. et al. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. J. Neurol. Sci. 353, 149-154 (2015).
-
(2015)
J. Neurol. Sci.
, vol.353
, pp. 149-154
-
-
Ahmed, S.1
-
104
-
-
20144372363
-
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
-
Aknin-Seifer, I. E. et al. Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study. Hum. Reprod. 20, 736-740 (2005).
-
(2005)
Hum. Reprod.
, vol.20
, pp. 736-740
-
-
Aknin-Seifer, I.E.1
-
105
-
-
84886383525
-
Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility
-
Poongothai, J. Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility. J. Assist. Reprod. Genet. 30, 1109-1114 (2013).
-
(2013)
J. Assist. Reprod. Genet.
, vol.30
, pp. 1109-1114
-
-
Poongothai, J.1
-
106
-
-
33644827312
-
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia
-
Brusco, A. et al. The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. J. Endocrinol. Invest. 29, 1-4 (2006).
-
(2006)
J. Endocrinol. Invest.
, vol.29
, pp. 1-4
-
-
Brusco, A.1
-
107
-
-
0031656184
-
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome
-
Artuch, R. et al. Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. Horm. Res. 50, 99-104 (1998).
-
(1998)
Horm. Res.
, vol.50
, pp. 99-104
-
-
Artuch, R.1
-
108
-
-
0031595077
-
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease
-
Boles, R. G., Roe, T. , Senadheera, D., Mahnovski, V. & Wong, L. J. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur. J. Pediatr. 157, 643-647 (1998).
-
(1998)
Eur. J. Pediatr.
, vol.157
, pp. 643-647
-
-
Boles, R.G.1
Roe, T.2
Senadheera, D.3
Mahnovski, V.4
Wong, L.J.5
-
109
-
-
84876668338
-
A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome
-
Tzoufi, M. et al. A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. Eur. J. Pediatr. 172, 557-561 (2013).
-
(2013)
Eur. J. Pediatr.
, vol.172
, pp. 557-561
-
-
Tzoufi, M.1
-
110
-
-
84909976836
-
Large mitochondrial DNA deletion in an infant with Addison disease
-
Duran, G. P. et al. Large mitochondrial DNA deletion in an infant with Addison disease. JIMD Rep. 3, 5-9 (2012).
-
(2012)
JIMD Rep.
, vol.3
, pp. 5-9
-
-
Duran, G.P.1
-
111
-
-
0027326237
-
Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities
-
Ribes, A. et al. Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. J. Inherit. Metab. Dis. 16, 537-540 (1993).
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 537-540
-
-
Ribes, A.1
-
112
-
-
84954190982
-
Adrenal insufficiency in mitochondrial disease: A rare case of GFER-related mitochondrial encephalomyopathy and review of the literature
-
Calderwood, L., Holm, I. A., Teot, L. A. & Anselm, I. Adrenal insufficiency in mitochondrial disease: a rare case of GFER-related mitochondrial encephalomyopathy and review of the literature. J. Child Neurol. 31, 190-194 (2015).
-
(2015)
J. Child Neurol.
, vol.31
, pp. 190-194
-
-
Calderwood, L.1
Holm, I.A.2
Teot, L.A.3
Anselm, I.4
-
113
-
-
84909968237
-
Adrenal insufficiency in a child with MELAS syndrome
-
Afroze, B., Amjad, N., Ibrahim, S. H., Humayun, K. N. & Yakob, Y. Adrenal insufficiency in a child with MELAS syndrome. Brain Dev. 36, 924-927 (2014).
-
(2014)
Brain Dev.
, vol.36
, pp. 924-927
-
-
Afroze, B.1
Amjad, N.2
Ibrahim, S.H.3
Humayun, K.N.4
Yakob, Y.5
-
115
-
-
84954515152
-
Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
-
Guran, T. et al. Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort. J. Clin. Endocrinol. Metab. 101, 284-292 (2016).
-
(2016)
J. Clin. Endocrinol. Metab.
, vol.101
, pp. 284-292
-
-
Guran, T.1
-
116
-
-
84863003306
-
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
-
Meimaridou, E. et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat. Genet. 44, 740-742 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 740-742
-
-
Meimaridou, E.1
-
117
-
-
84905819540
-
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD)
-
Prasad, R. et al. Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J. Clin. Endocrinol. Metab. 99, E1556-E1563 (2014).
-
(2014)
J. Clin. Endocrinol. Metab.
, vol.99
, pp. E1556-E1563
-
-
Prasad, R.1
-
118
-
-
84901638216
-
Oxidative stress and adrenocortical insufficiency
-
Prasad, R., Kowalczyk, J. C., Meimaridou, E., Storr, H. L. & Metherell, L. A. Oxidative stress and adrenocortical insufficiency. J. Endocrinol. 221, R63-R73 (2014).
-
(2014)
J. Endocrinol.
, vol.221
, pp. R63-R73
-
-
Prasad, R.1
Kowalczyk, J.C.2
Meimaridou, E.3
Storr, H.L.4
Metherell, L.A.5
-
119
-
-
53049098744
-
Mutation of C20orf7 disrupts complex i assembly and causes lethal neonatal mitochondrial disease
-
Sugiana, C. et al. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am. J. Hum. Genet. 83, 468-478 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 468-478
-
-
Sugiana, C.1
-
120
-
-
82755197808
-
Biochemical analysis of the G517V POLG variant reveals wild-type like activity
-
Kasiviswanathan, R. & Copeland, W. C. Biochemical analysis of the G517V POLG variant reveals wild-type like activity. Mitochondrion 11 , 929-934 (2011).
-
(2011)
Mitochondrion
, vol.11
, pp. 929-934
-
-
Kasiviswanathan, R.1
Copeland, W.C.2
-
121
-
-
0030930127
-
Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
-
Nicolino, M. et al. Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J. Clin. Endocrinol. Metab. 82, 3063-3067 (1997).
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 3063-3067
-
-
Nicolino, M.1
-
122
-
-
0020613411
-
Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency
-
Sasaki, H., Kuzuhara, S., Kanazawa, I., Nakanishi, T. & Ogata, T. Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. Neurology 33, 1288-1293 (1983).
-
(1983)
Neurology
, vol.33
, pp. 1288-1293
-
-
Sasaki, H.1
Kuzuhara, S.2
Kanazawa, I.3
Nakanishi, T.4
Ogata, T.5
-
123
-
-
0025271198
-
Kearns-Sayre syndrome. Two clinico-pathological cases
-
Bordarier, C., Duyckaerts, C., Robain, O., Ponsot, G. & Laplane, D. Kearns-Sayre syndrome. Two clinico-pathological cases. Neuropediatrics 21, 106-109 (1990).
-
(1990)
Neuropediatrics
, vol.21
, pp. 106-109
-
-
Bordarier, C.1
Duyckaerts, C.2
Robain, O.3
Ponsot, G.4
Laplane, D.5
-
124
-
-
0017859370
-
Kearns-Sayre syndrome with hypoparathyroidism
-
Horwitz, S. J. & Roessmann, U. Kearns-Sayre syndrome with hypoparathyroidism. Ann. Neurol. 3, 513-518 (1978).
-
(1978)
Ann. Neurol.
, vol.3
, pp. 513-518
-
-
Horwitz, S.J.1
Roessmann, U.2
-
125
-
-
0343632387
-
Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: A clinical and molecular genetic study of four children with Kearns-Sayre syndrome
-
Wilichowski, E. et al. Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr. Res. 41, 193-200 (1997).
-
(1997)
Pediatr. Res.
, vol.41
, pp. 193-200
-
-
Wilichowski, E.1
-
126
-
-
84887641670
-
Hypoparathyroidism as the first manifestation of Kearns-Sayre syndrome: A case report
-
Ashrafzadeh, F. , Ghaemi, N., Akhondian, J., Beiraghi Toosi, M. & Elmi, S. Hypoparathyroidism as the first manifestation of Kearns-Sayre syndrome: a case report. Iran. J. Child Neurol. 7, 53-57 (2013).
-
(2013)
Iran. J. Child Neurol.
, vol.7
, pp. 53-57
-
-
Ashrafzadeh, F.1
Ghaemi, N.2
Akhondian, J.3
Beiraghi Toosi, M.4
Elmi, S.5
-
127
-
-
0031594759
-
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid
-
Tengan, C. H. et al. Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. J. Clin. Endocrinol. Metab. 83, 125-129 (1998).
-
(1998)
J. Clin. Endocrinol. Metab.
, vol.83
, pp. 125-129
-
-
Tengan, C.H.1
-
128
-
-
0034876449
-
Mitochondrial tubulopathy: The many faces of mitochondrial disorders
-
Lee, Y. S. et al. Mitochondrial tubulopathy: the many faces of mitochondrial disorders. Pediatr. Nephrol. 16, 710-712 (2001).
-
(2001)
Pediatr. Nephrol.
, vol.16
, pp. 710-712
-
-
Lee, Y.S.1
-
129
-
-
0025314193
-
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome
-
Goto, Y. et al. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J. Pediatr. 11 6 , 904-910 (1990).
-
(1990)
J. Pediatr.
, vol.116
, pp. 904-910
-
-
Goto, Y.1
-
130
-
-
84862289720
-
Renal involvement in mitochondrial cytopathies
-
Emma, F. , Bertini, E., Salviati, L. & Montini, G. Renal involvement in mitochondrial cytopathies. Pediatr. Nephrol. 27, 539-550 (2012).
-
(2012)
Pediatr. Nephrol.
, vol.27
, pp. 539-550
-
-
Emma, F.1
Bertini, E.2
Salviati, L.3
Montini, G.4
-
131
-
-
0033029532
-
Hypomagnesemia
-
Agus, Z. S. Hypomagnesemia. J. Am. Soc. Nephrol. 10, 1616-1622 (1999).
-
(1999)
J. Am. Soc. Nephrol.
, vol.10
, pp. 1616-1622
-
-
Agus, Z.S.1
-
132
-
-
0035001156
-
Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome
-
Katsanos, K. H., Elisaf, M., Bairaktari, E. & Tsianos, E. V. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am. J. Nephrol. 21, 150-153 (2001).
-
(2001)
Am. J. Nephrol.
, vol.21
, pp. 150-153
-
-
Katsanos, K.H.1
Elisaf, M.2
Bairaktari, E.3
Tsianos, E.V.4
-
133
-
-
0034150023
-
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA
-
Tanaka, K. et al. Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Intern. Med. 39, 249-252 (2000).
-
(2000)
Intern. Med.
, vol.39
, pp. 249-252
-
-
Tanaka, K.1
-
134
-
-
0017687063
-
Oculocraniosomatic neuromuscular disease with hypoparathyroidism
-
Toppet, M., Telerman-Toppet, N., Szliwowski, H. B., Vainsel, M. & Coers, C. Oculocraniosomatic neuromuscular disease with hypoparathyroidism. Am. J. Dis. Child 131, 437-441 (1977).
-
(1977)
Am. J. Dis. Child
, vol.131
, pp. 437-441
-
-
Toppet, M.1
Telerman-Toppet, N.2
Szliwowski, H.B.3
Vainsel, M.4
Coers, C.5
-
135
-
-
79952277707
-
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia
-
Pfeffer, G., Sirrs, S., Wade, N. K. & Mezei, M. M. Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can. J. Neurol. Sci. 38, 119-123 (2011).
-
(2011)
Can. J. Neurol. Sci.
, vol.38
, pp. 119-123
-
-
Pfeffer, G.1
Sirrs, S.2
Wade, N.K.3
Mezei, M.M.4
-
136
-
-
84929470905
-
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness
-
Hu, H. et al. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann. Clin. Transl. Neurol. 1, 1024-1035 (2014).
-
(2014)
Ann. Clin. Transl. Neurol.
, vol.1
, pp. 1024-1035
-
-
Hu, H.1
-
137
-
-
84876089156
-
Thyroid disease awareness is associated with high rates of identifying subjects with previously undiagnosed thyroid dysfunction
-
Canaris, G. J., Tape, T. G. & Wigton, R. S. Thyroid disease awareness is associated with high rates of identifying subjects with previously undiagnosed thyroid dysfunction. BMC Public Health 13, 351 (2013).
-
(2013)
BMC Public Health
, vol.13
, pp. 351
-
-
Canaris, G.J.1
Tape, T.G.2
Wigton, R.S.3
|