-
1
-
-
0030901427
-
Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus
-
Abad M.M., Cotter P.D., Fodor F.H., Larson S., Ginsberg-Fellner F., Desnick R.J., et al. Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. Metabolism 1997, 46:445-449.
-
(1997)
Metabolism
, vol.46
, pp. 445-449
-
-
Abad, M.M.1
Cotter, P.D.2
Fodor, F.H.3
Larson, S.4
Ginsberg-Fellner, F.5
Desnick, R.J.6
-
2
-
-
0037213037
-
Development and progression of nephropathy in Type 2 diabetes: the United Kingdom Prospective Diabetes Study (UKPDS 64)
-
Adler A.I., Stevens R.J., Manley S.E., Bilous R.W., Cull C.A., Holman R.R. Development and progression of nephropathy in Type 2 diabetes: the United Kingdom Prospective Diabetes Study (UKPDS 64). Kidney Int. 2003, 63:225-232.
-
(2003)
Kidney Int.
, vol.63
, pp. 225-232
-
-
Adler, A.I.1
Stevens, R.J.2
Manley, S.E.3
Bilous, R.W.4
Cull, C.A.5
Holman, R.R.6
-
3
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J., et al. Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
de Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
-
4
-
-
0031796949
-
Expanding the phenotype of the 8344 transfer RNA lysine mitochondrial DNA mutation
-
Austin S., Vriesendorp F., Thandroyen F., Hecht J., Jones O., Johns D. Expanding the phenotype of the 8344 transfer RNA lysine mitochondrial DNA mutation. Neurology 1998, 51:1447-1450.
-
(1998)
Neurology
, vol.51
, pp. 1447-1450
-
-
Austin, S.1
Vriesendorp, F.2
Thandroyen, F.3
Hecht, J.4
Jones, O.5
Johns, D.6
-
5
-
-
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. 2000, 15:755-758.
-
(2000)
J. Child Neurol.
, vol.15
, pp. 755-758
-
-
Balestri, P.1
Grosso, S.2
-
6
-
-
0027935776
-
Mitochondrial diabetes revisited
-
Ballinger S.W., Shoffner J.M., Gebhart S., Koontz D.A., Wallace D.C. Mitochondrial diabetes revisited. Nat. Genet. 1994, 7:458-459.
-
(1994)
Nat. Genet.
, vol.7
, pp. 458-459
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Gebhart, S.3
Koontz, D.A.4
Wallace, D.C.5
-
7
-
-
0030770750
-
Sporadic heteroplasmic single 5.5kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency
-
Barrientos A., Casademont J., Genis D., Cardellach F., Fernández-Real J.M., Grau J.M., et al. Sporadic heteroplasmic single 5.5kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. Hum. Mutat. 1997, 10:212-216.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 212-216
-
-
Barrientos, A.1
Casademont, J.2
Genis, D.3
Cardellach, F.4
Fernández-Real, J.M.5
Grau, J.M.6
-
8
-
-
84862806813
-
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
-
Bekheirnia M.R., Zhang W., Eble T., Willis A., Shaibani A., Wong L.J., et al. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene 2012, 499:209-212.
-
(2012)
Gene
, vol.499
, pp. 209-212
-
-
Bekheirnia, M.R.1
Zhang, W.2
Eble, T.3
Willis, A.4
Shaibani, A.5
Wong, L.J.6
-
9
-
-
0034450209
-
Kearns-Sayre syndrome with GH deficiency
-
Berio A., Piazzi A. Kearns-Sayre syndrome with GH deficiency. Pediatr. Med. Chir. 2000, 22:43-46.
-
(2000)
Pediatr. Med. Chir.
, vol.22
, pp. 43-46
-
-
Berio, A.1
Piazzi, A.2
-
10
-
-
33746467163
-
A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block
-
Berio A., Piazzi A. A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block. Min. Cardioangiol. 2006, 54:387-391.
-
(2006)
Min. Cardioangiol.
, vol.54
, pp. 387-391
-
-
Berio, A.1
Piazzi, A.2
-
11
-
-
34249752105
-
Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre sindrome with growth hormone deficiency
-
Berio A., Piazzi A. Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre sindrome with growth hormone deficiency. Min. Med. 2007, 98:81-85.
-
(2007)
Min. Med.
, vol.98
, pp. 81-85
-
-
Berio, A.1
Piazzi, A.2
-
12
-
-
77949487939
-
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells
-
Blackwood J.K., Whittaker R.G., Blakely E.L., Alston C.L., Turnbull D.M., Taylor R.W. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. Biochem. Biophys. Res. Commun. 2010, 393:740-745.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.393
, pp. 740-745
-
-
Blackwood, J.K.1
Whittaker, R.G.2
Blakely, E.L.3
Alston, C.L.4
Turnbull, D.M.5
Taylor, R.W.6
-
13
-
-
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.C. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur. J. Ped. 1998, 157:643-647.
-
(1998)
Eur. J. Ped.
, vol.157
, pp. 643-647
-
-
Boles, R.G.1
Roe, T.2
Senadheera, D.3
Mahnovski, V.4
Wong, L.J.C.5
-
14
-
-
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 1990, 21:106-109.
-
(1990)
Neuropediatrics
, vol.21
, pp. 106-109
-
-
Bordarier, C.1
Duyckaerts, C.2
Robain, O.3
Ponsot, G.4
Laplane, D.5
-
15
-
-
84863012272
-
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
-
Calvo S.E., Compton A.G., Hershman S.G., Lim S.C., Lieber D.S., Tucker E.J., Laskowski A. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci. Transl. Med. 2012, 25:118ra10.
-
(2012)
Sci. Transl. Med.
, vol.25
-
-
Calvo, S.E.1
Compton, A.G.2
Hershman, S.G.3
Lim, S.C.4
Lieber, D.S.5
Tucker, E.J.6
Laskowski, A.7
-
16
-
-
33847248347
-
The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells
-
Cao L., Shitara H., Horii T., Nagao Y., Imai H., Abe K., et al. The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat. Genet. 2007, 39:386-390.
-
(2007)
Nat. Genet.
, vol.39
, pp. 386-390
-
-
Cao, L.1
Shitara, H.2
Horii, T.3
Nagao, Y.4
Imai, H.5
Abe, K.6
-
17
-
-
34247126028
-
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
-
Carod-Artal F.J., Herrero M.D., Lara M.C., López-Gallardo E., Ruiz-Pesini E., Martí R., et al. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur. J. Neurol. 2007, 14:581-585.
-
(2007)
Eur. J. Neurol.
, vol.14
, pp. 581-585
-
-
Carod-Artal, F.J.1
Herrero, M.D.2
Lara, M.C.3
López-Gallardo, E.4
Ruiz-Pesini, E.5
Martí, R.6
-
18
-
-
33846270306
-
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism
-
Cassandrini D., Savasta S., Bozzola M., Tessa A., Pedemonte M., Assereto S., et al. Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J. Child Neurol. 2006, 21:983-985.
-
(2006)
J. Child Neurol.
, vol.21
, pp. 983-985
-
-
Cassandrini, D.1
Savasta, S.2
Bozzola, M.3
Tessa, A.4
Pedemonte, M.5
Assereto, S.6
-
19
-
-
0036300033
-
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome
-
Choo-Kang A., Lynn S., Taylor G., Daly M.E., Sihota S.S., Wardell T.M., et al. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 2002, 51:2317-2320.
-
(2002)
Diabetes
, vol.51
, pp. 2317-2320
-
-
Choo-Kang, A.1
Lynn, S.2
Taylor, G.3
Daly, M.E.4
Sihota, S.S.5
Wardell, T.M.6
-
20
-
-
0034112894
-
Leber's hereditary optic neuropathy and maturity onset diabetes mellitus: is there a metabolic association?
-
Cole A., Dutton G.N. Leber's hereditary optic neuropathy and maturity onset diabetes mellitus: is there a metabolic association?. Br. J. Ophthalmol. 2000, 84:439-440.
-
(2000)
Br. J. Ophthalmol.
, vol.84
, pp. 439-440
-
-
Cole, A.1
Dutton, G.N.2
-
21
-
-
38649091334
-
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
-
Cree L.M., Samuels D.C., de Sousa Lopes S.C., Rajasimha H.K., Wonnapinij P., Mann J.R., et al. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat. Genet. 2008, 40:249-254.
-
(2008)
Nat. Genet.
, vol.40
, pp. 249-254
-
-
Cree, L.M.1
Samuels, D.C.2
de Sousa Lopes, S.C.3
Rajasimha, H.K.4
Wonnapinij, P.5
Mann, J.R.6
-
22
-
-
34547733564
-
Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31years
-
Das S., Bennett A.J., Sovio U., Ruokonen A., Martikainen H., Pouta A., et al. Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31years. J. Clin. Endocrinol. Metab. 2007, 92:3219-3223.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 3219-3223
-
-
Das, S.1
Bennett, A.J.2
Sovio, U.3
Ruokonen, A.4
Martikainen, H.5
Pouta, A.6
-
23
-
-
0022972335
-
Kearns-Sayre syndrome, hypoparathyroidism, and basal ganglia calcification
-
Dewhurst A.G., Hall D., Schwartz M.S., McKeran R.O. Kearns-Sayre syndrome, hypoparathyroidism, and basal ganglia calcification. J. Neurol. Neurosurg. Psych. 1986, 49:1323-1324.
-
(1986)
J. Neurol. Neurosurg. Psych.
, vol.49
, pp. 1323-1324
-
-
Dewhurst, A.G.1
Hall, D.2
Schwartz, M.S.3
McKeran, R.O.4
-
24
-
-
0026608148
-
Evidence for a metabolic trigger for Leber's hereditary optic neuropathy
-
Du Bois L.G., Feldon S.E. Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. J. Clin. Neuro-Ophthalmol. 1992, 12:15-16.
-
(1992)
J. Clin. Neuro-Ophthalmol.
, vol.12
, pp. 15-16
-
-
Du Bois, L.G.1
Feldon, S.E.2
-
25
-
-
0016837513
-
Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma
-
Ekbom K. Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. Acta Neurol. Scand. 1975, 51:393-404.
-
(1975)
Acta Neurol. Scand.
, vol.51
, pp. 393-404
-
-
Ekbom, K.1
-
26
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott H.R., Samuels D.C., Eden J.A., Relton C.L., Chinnery P.F. 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
-
27
-
-
0042922454
-
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma
-
Filosto M., Mancuso M., Nishigaki Y., Pancrudo J., Harati Y., Gooch C., et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch. Neurol. 2003, 60:1279-1284.
-
(2003)
Arch. Neurol.
, vol.60
, pp. 1279-1284
-
-
Filosto, M.1
Mancuso, M.2
Nishigaki, Y.3
Pancrudo, J.4
Harati, Y.5
Gooch, C.6
-
28
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y., Nonaka I., Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim. Biophys. Acta 1991, 1097:238-240.
-
(1991)
Biochim. Biophys. Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
29
-
-
82755161770
-
Mitochondrial DNA and disease
-
Greaves L.C., Reeve A.K., Taylor R.W., Turnbull D.M. Mitochondrial DNA and disease. J. Pathol. 2012, 226:274-286.
-
(2012)
J. Pathol.
, vol.226
, pp. 274-286
-
-
Greaves, L.C.1
Reeve, A.K.2
Taylor, R.W.3
Turnbull, D.M.4
-
30
-
-
0035341093
-
Maternally inherited diabetes and deafness: a multicenter study
-
Guillausseau P.J., Massin P., Dubois-Laforge D., Timsit J., Virally M., Gin H., et al. Maternally inherited diabetes and deafness: a multicenter study. Ann. Int. Med. 2001, 134:721-728.
-
(2001)
Ann. Int. Med.
, vol.134
, pp. 721-728
-
-
Guillausseau, P.J.1
Massin, P.2
Dubois-Laforge, D.3
Timsit, J.4
Virally, M.5
Gin, H.6
-
31
-
-
2642536829
-
Heterogeneity of diabetes phenotype in patients with 3243-bp mutation of mitochondrial DNA (maternally inherited diabetes and deafness or MIDD)
-
Guillausseau P.J., Dubois-Laforge D., Massin P., Laloi-Michelin M., Bellanne-Chantelot C., Gin H., et al. Heterogeneity of diabetes phenotype in patients with 3243-bp mutation of mitochondrial DNA (maternally inherited diabetes and deafness or MIDD). Diabet. Metab. 2004, 30:181-186.
-
(2004)
Diabet. Metab.
, vol.30
, pp. 181-186
-
-
Guillausseau, P.J.1
Dubois-Laforge, D.2
Massin, P.3
Laloi-Michelin, M.4
Bellanne-Chantelot, C.5
Gin, H.6
-
32
-
-
79960440494
-
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series
-
Gurrieri C., Kivela J.E., Bojanić K., Gavrilova R.H., Flick R.P., Sprung J., et al. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can. J. Anaesth. 2001, 58:751-763.
-
(2001)
Can. J. Anaesth.
, vol.58
, pp. 751-763
-
-
Gurrieri, C.1
Kivela, J.E.2
Bojanić, K.3
Gavrilova, R.H.4
Flick, R.P.5
Sprung, J.6
-
33
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaki M., et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am. J. Hum. Genet. 2005, 77:430-441.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
Lappalainen, I.4
Luoma, P.T.5
Rantamaki, M.6
-
34
-
-
0028917662
-
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation
-
Hanna M.G., Nelson I., Sweeney M.G., Cooper J.M., Watkins P.J., Morgan-Hughes J.A., et al. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. Am. J. Hum. Genet. 1995, 56:1026-1033.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1026-1033
-
-
Hanna, M.G.1
Nelson, I.2
Sweeney, M.G.3
Cooper, J.M.4
Watkins, P.J.5
Morgan-Hughes, J.A.6
-
35
-
-
0026773036
-
Endocrine dysfunction in Kearns-Sayre syndrome
-
Harvey J.N., Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin. Endocrinol. 1992, 37:97-103.
-
(1992)
Clin. Endocrinol.
, vol.37
, pp. 97-103
-
-
Harvey, J.N.1
Barnett, D.2
-
36
-
-
0031742026
-
Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy
-
Holmes-Walker D., Mitchell P., Boyages S. Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy. Diabet. Med. 1998, 15:946-952.
-
(1998)
Diabet. Med.
, vol.15
, pp. 946-952
-
-
Holmes-Walker, D.1
Mitchell, P.2
Boyages, S.3
-
37
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988, 331:717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
38
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
-
Horvath R., Hudson G., Ferrari G., Fütterer N., Ahola S., Lamantea E., et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129:1674-1684.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
Fütterer, N.4
Ahola, S.5
Lamantea, E.6
-
39
-
-
0017859370
-
Kearns Sayre syndrome with hypoparathyroidism
-
Horwitz S.J., Roessmann U. Kearns Sayre syndrome with hypoparathyroidism. Ann. Neurol. 1978, 3:513-518.
-
(1978)
Ann. Neurol.
, vol.3
, pp. 513-518
-
-
Horwitz, S.J.1
Roessmann, U.2
-
40
-
-
0025806099
-
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunction: a case report
-
Ishii A., Watanabe S., Ohkoshi N., Mizusawa H., Kanazawa I. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunction: a case report. Clin. Neurol. 1991, 31:179-183.
-
(1991)
Clin. Neurol.
, vol.31
, pp. 179-183
-
-
Ishii, A.1
Watanabe, S.2
Ohkoshi, N.3
Mizusawa, H.4
Kanazawa, I.5
-
41
-
-
84879463746
-
Unusual exocrine complication of pancreatitis in mitochondrial disease
-
pii:S0387-7604(12)00273-2
-
Ishiyama A., Komaki H., Saito T., Saito Y., Nakagawa E., Sugai K., et al. Unusual exocrine complication of pancreatitis in mitochondrial disease. Brain Dev. 2012, pii:S0387-7604(12)00273-2.
-
(2012)
Brain Dev.
-
-
Ishiyama, A.1
Komaki, H.2
Saito, T.3
Saito, Y.4
Nakagawa, E.5
Sugai, K.6
-
42
-
-
0029796530
-
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion
-
Isotani H., Fukumoto Y., Kawamura H., Furukawa K., Ohsawa N., Goto Y.I., et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin. Endocrin. 1996, 45:637-641.
-
(1996)
Clin. Endocrin.
, vol.45
, pp. 637-641
-
-
Isotani, H.1
Fukumoto, Y.2
Kawamura, H.3
Furukawa, K.4
Ohsawa, N.5
Goto, Y.I.6
-
44
-
-
6844249406
-
A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction
-
Joko T., Iwashige K., Hashimoto T., Ono Y., Kobayashi K., Sekiguchi N., et al. A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. Endocr. J. 1997, 44:805-809.
-
(1997)
Endocr. J.
, vol.44
, pp. 805-809
-
-
Joko, T.1
Iwashige, K.2
Hashimoto, T.3
Ono, Y.4
Kobayashi, K.5
Sekiguchi, N.6
-
45
-
-
0027474253
-
Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus
-
Kadowaki H., Tobe K., Mori Y., Sakura H., Sakuta R., Nonaka I., et al. Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus. Lancet 1993, 341:893-894.
-
(1993)
Lancet
, vol.341
, pp. 893-894
-
-
Kadowaki, H.1
Tobe, K.2
Mori, Y.3
Sakura, H.4
Sakuta, R.5
Nonaka, I.6
-
46
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
Kadowaki T., Kadowaki H., Mori Y., Tobe K., Sakuta R., Suzuki Y., et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N. Eng. J. Med. 1994, 330:962-968.
-
(1994)
N. Eng. J. Med.
, vol.330
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
Tobe, K.4
Sakuta, R.5
Suzuki, Y.6
-
47
-
-
84864859207
-
A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism
-
Kalkan I.H., Tayfur O., Oztaş E., Beyazit Y., Yildiz H., Tunç B. A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism. Hormones (Athens) 2012, 11:377-379.
-
(2012)
Hormones (Athens)
, vol.11
, pp. 377-379
-
-
Kalkan, I.H.1
Tayfur, O.2
Oztaş, E.3
Beyazit, Y.4
Yildiz, H.5
Tunç, B.6
-
50
-
-
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. 2001, 21:150-153.
-
(2001)
Am. J. Nephrol.
, vol.21
, pp. 150-153
-
-
Katsanos, K.H.1
Elisaf, M.2
Bairaktari, E.3
Tsianos, E.V.4
-
53
-
-
0034909011
-
Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus
-
Klemm T., Neumann S., Trulzsch B., Pistrosch F., Hanefeld M., Paschke R. Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus. Exp. Clin. Endocrinol. Diabet. 2001, 109:283-287.
-
(2001)
Exp. Clin. Endocrinol. Diabet.
, vol.109
, pp. 283-287
-
-
Klemm, T.1
Neumann, S.2
Trulzsch, B.3
Pistrosch, F.4
Hanefeld, M.5
Paschke, R.6
-
54
-
-
0030256832
-
Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243
-
Kobayashi T., Oka Y., Katagiri H., Falorni A., Kasuga A., Takei I., et al. Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. Diabetologia 1996, 39:1196-1200.
-
(1996)
Diabetologia
, vol.39
, pp. 1196-1200
-
-
Kobayashi, T.1
Oka, Y.2
Katagiri, H.3
Falorni, A.4
Kasuga, A.5
Takei, I.6
-
55
-
-
0030747209
-
In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243
-
Kobayashi T., Nakanishi K., Nakase H., Kajio H., Okubo M., Murase T., et al. In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243. Diabetes 1997, 46:1567-1572.
-
(1997)
Diabetes
, vol.46
, pp. 1567-1572
-
-
Kobayashi, T.1
Nakanishi, K.2
Nakase, H.3
Kajio, H.4
Okubo, M.5
Murase, T.6
-
56
-
-
16844383233
-
Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
-
Kubota H., Tanabe Y., Takanashi J.I., Kohno Y. Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). J. Child Neurol. 2005, 20:116-119.
-
(2005)
J. Child Neurol.
, vol.20
, pp. 116-119
-
-
Kubota, H.1
Tanabe, Y.2
Takanashi, J.I.3
Kohno, Y.4
-
57
-
-
68549130511
-
Mitochondrial Diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes
-
Laloi-Michelin M., Meas T., Ambonville C., Bellanné-Chantelot C., Beaufils S., Massin P., et al. Mitochondrial Diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J. Clin. Endocrinol. Metab. 2009, 94:3025-3030.
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, pp. 3025-3030
-
-
Laloi-Michelin, M.1
Meas, T.2
Ambonville, C.3
Bellanné-Chantelot, C.4
Beaufils, S.5
Massin, P.6
-
58
-
-
0036941362
-
Pigmentary retinopathy in patients with the MELAS mutation 3243A>G in mitochondrial DNA
-
Latvala T., Mustonen E., Uusitalo R., Majamaa K. Pigmentary retinopathy in patients with the MELAS mutation 3243A>G in mitochondrial DNA. Arch. Clin. Exp. Ophthalmol. 2002, 240:795-801.
-
(2002)
Arch. Clin. Exp. Ophthalmol.
, vol.240
, pp. 795-801
-
-
Latvala, T.1
Mustonen, E.2
Uusitalo, R.3
Majamaa, K.4
-
59
-
-
34548458633
-
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient
-
Lau K.K., Yang S.P., Haddad M.N., Butani L., Makker S.P. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient. Int. J. Urol. Nephrol. 2007, 39:941-946.
-
(2007)
Int. J. Urol. Nephrol.
, vol.39
, pp. 941-946
-
-
Lau, K.K.1
Yang, S.P.2
Haddad, M.N.3
Butani, L.4
Makker, S.P.5
-
60
-
-
0032857518
-
High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
-
Lehto M., Wipemo C., Ivarsson S., Lindgren C., Lipsanen-Nyman M., Weng J., et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 1999, 42:1131-1137.
-
(1999)
Diabetologia
, vol.42
, pp. 1131-1137
-
-
Lehto, M.1
Wipemo, C.2
Ivarsson, S.3
Lindgren, C.4
Lipsanen-Nyman, M.5
Weng, J.6
-
61
-
-
79955038911
-
The potential of adipose stem cells in regenerative medicine
-
Lindroos B., Suuronen R., Miettinen S. The potential of adipose stem cells in regenerative medicine. Stem Cell Rev. 2011, 7:269-291.
-
(2011)
Stem Cell Rev.
, vol.7
, pp. 269-291
-
-
Lindroos, B.1
Suuronen, R.2
Miettinen, S.3
-
62
-
-
67649409167
-
Recessive twinkle mutations cause severe epileptic encephalopathy
-
Lönnqvist T., Paetau A., Valanne L., Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 2009, 132:1553-1562.
-
(2009)
Brain
, vol.132
, pp. 1553-1562
-
-
Lönnqvist, T.1
Paetau, A.2
Valanne, L.3
Pihko, H.4
-
63
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study
-
Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004, 364:875-882.
-
(2004)
Lancet
, vol.364
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
Kaukonen, J.A.4
Nupponen, N.N.5
Chalmers, R.M.6
-
64
-
-
0031667928
-
Mitochondrial diabetes: investigation and identification of a novel mutation
-
Lynn S., Wardell T., Johnson M.A., Chinnery P.F., Daly M.E., Walker M., et al. Mitochondrial diabetes: investigation and identification of a novel mutation. Diabetes 1998, 47:1800-1802.
-
(1998)
Diabetes
, vol.47
, pp. 1800-1802
-
-
Lynn, S.1
Wardell, T.2
Johnson, M.A.3
Chinnery, P.F.4
Daly, M.E.5
Walker, M.6
-
65
-
-
0037299943
-
Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells
-
Lynn S., Borthwick G.M., Charnley R.M., Walker M., Turnbull D.M. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia 2003, 46:296-299.
-
(2003)
Diabetologia
, vol.46
, pp. 296-299
-
-
Lynn, S.1
Borthwick, G.M.2
Charnley, R.M.3
Walker, M.4
Turnbull, D.M.5
-
66
-
-
0842285626
-
Mitochondrial diabetes: molecular mechanisms and clinical presentation
-
Maassen J., t'Hart L., van Essen E., Heine R., Nijpels G., Jahangir Tafrechi R., et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 2004, 53:S103-S109.
-
(2004)
Diabetes
, vol.53
-
-
Maassen, J.1
t'Hart, L.2
van Essen, E.3
Heine, R.4
Nijpels, G.5
Jahangir Tafrechi, R.6
-
67
-
-
0030686478
-
The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct
-
Majamaa K., Turkka J., Karppa M., Winqvist S., Hassinen I.E. The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 1997, 49:1331-1334.
-
(1997)
Neurology
, vol.49
, pp. 1331-1334
-
-
Majamaa, K.1
Turkka, J.2
Karppa, M.3
Winqvist, S.4
Hassinen, I.E.5
-
69
-
-
0033365294
-
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene
-
Mansergh F.C., Millington-Ward S., Kennan A., Kiang A.-S., Humphries M., Farrar G.J., et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am. J. Hum. Genet. 1999, 64:971-985.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 971-985
-
-
Mansergh, F.C.1
Millington-Ward, S.2
Kennan, A.3
Kiang, A.-S.4
Humphries, M.5
Farrar, G.J.6
-
70
-
-
12944272137
-
Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM group
-
Massin P., Virally-Monod M., Vialettes B., Paques M., Gin H., Porokhov B., et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM group. Ophthalmology 1999, 106:1821-1827.
-
(1999)
Ophthalmology
, vol.106
, pp. 1821-1827
-
-
Massin, P.1
Virally-Monod, M.2
Vialettes, B.3
Paques, M.4
Gin, H.5
Porokhov, B.6
-
71
-
-
0032936226
-
The prevalence of mitochondrial gene mutations in childhood diabetes in Japan
-
Matsuura N., Suzuki S., Yokota Y., Kazahari K., Kazahari M., Toyota T., et al. The prevalence of mitochondrial gene mutations in childhood diabetes in Japan. J. Pediatr. Endocrinol. Metab. 1999, 12:27-30.
-
(1999)
J. Pediatr. Endocrinol. Metab.
, vol.12
, pp. 27-30
-
-
Matsuura, N.1
Suzuki, S.2
Yokota, Y.3
Kazahari, K.4
Kazahari, M.5
Toyota, T.6
-
72
-
-
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 2002, 33:271-273.
-
(2002)
Neuropediatrics
, vol.33
, pp. 271-273
-
-
Matsuzaki, M.1
Izumi, T.2
Shishikura, K.3
Suzuki, H.4
Hirayama, Y.5
-
73
-
-
4644310825
-
Non-invasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells
-
McDonnell M.T., Blakely E.L., Schaefer A.M., McFarland R., Turnbull D.M., Taylor R.W. Non-invasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells. Eur. J. Hum. Genet. 2004, 12:778-781.
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, pp. 778-781
-
-
McDonnell, M.T.1
Blakely, E.L.2
Schaefer, A.M.3
McFarland, R.4
Turnbull, D.M.5
Taylor, R.W.6
-
74
-
-
12144289616
-
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation
-
McFarland R., Schaefer A.M., Gardner J.L., Lynn S., Hayes C.M., Barron M.J., et al. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann. Neurol. 2004, 55:478-484.
-
(2004)
Ann. Neurol.
, vol.55
, pp. 478-484
-
-
McFarland, R.1
Schaefer, A.M.2
Gardner, J.L.3
Lynn, S.4
Hayes, C.M.5
Barron, M.J.6
-
76
-
-
70349494098
-
Trends in yield and effects of screening intervals during 17years of a large UK community-based diabetic retinopathy screening programme
-
Misra A., Bachmann M.O., Greenwood R.H., Jenkins C., Shaw A., Barakat O., et al. Trends in yield and effects of screening intervals during 17years of a large UK community-based diabetic retinopathy screening programme. Diabet. Med. 2009, 26:1040-1047.
-
(2009)
Diabet. Med.
, vol.26
, pp. 1040-1047
-
-
Misra, A.1
Bachmann, M.O.2
Greenwood, R.H.3
Jenkins, C.4
Shaw, A.5
Barakat, O.6
-
77
-
-
0032507986
-
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6years of follow-up
-
Mohri I., Taniike M., Fujimura H., Matsuoka T., Inui K., Nagai T., et al. A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6years of follow-up. J. Neurol. Sci. 1998, 158:106-109.
-
(1998)
J. Neurol. Sci.
, vol.158
, pp. 106-109
-
-
Mohri, I.1
Taniike, M.2
Fujimura, H.3
Matsuoka, T.4
Inui, K.5
Nagai, T.6
-
78
-
-
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. 2008, 25:383-399.
-
(2008)
Diabet. Med.
, vol.25
, pp. 383-399
-
-
Murphy, R.1
Turnbull, D.M.2
Walker, M.3
Hattersley, A.T.4
-
79
-
-
0033006246
-
Adult Leigh syndrome with mitochondrial DNA mutation at 8993
-
Nagashima T., Mori M., Katayama K., Nunomura M., Nishihara H., Hiraga H., et al. Adult Leigh syndrome with mitochondrial DNA mutation at 8993. Acta Neuropathol. 1999, 97:416-422.
-
(1999)
Acta Neuropathol.
, vol.97
, pp. 416-422
-
-
Nagashima, T.1
Mori, M.2
Katayama, K.3
Nunomura, M.4
Nishihara, H.5
Hiraga, H.6
-
80
-
-
0030872101
-
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population
-
Newkirk J.E., Taylor R.W., Howell N., Bindoff L.A., Chinnery P.F., Alberti K.G., et al. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. Diabet. Med. 1997, 14:457-460.
-
(1997)
Diabet. Med.
, vol.14
, pp. 457-460
-
-
Newkirk, J.E.1
Taylor, R.W.2
Howell, N.3
Bindoff, L.A.4
Chinnery, P.F.5
Alberti, K.G.6
-
81
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
-
Newman N.J., Lott M.T., Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am. J. Ophthalmol. 1991, 111:750-762.
-
(1991)
Am. J. Ophthalmol.
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.T.2
Wallace, D.C.3
-
82
-
-
0034087941
-
Mitochondrial DNA A3243G mutation in patients with early or late-onset Type 2 diabetes mellitus in Hong Kong Chinese
-
Ng M., Yeung V., Chow C., Li J., Smith P., Mijovic C., et al. Mitochondrial DNA A3243G mutation in patients with early or late-onset Type 2 diabetes mellitus in Hong Kong Chinese. Clin. Endocrinol. 2000, 52:557-564.
-
(2000)
Clin. Endocrinol.
, vol.52
, pp. 557-564
-
-
Ng, M.1
Yeung, V.2
Chow, C.3
Li, J.4
Smith, P.5
Mijovic, C.6
-
83
-
-
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., Ferlin T., Forest M., Godinot C., Carrier H., David 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 Endocrin. Metab. 1997, 82:3063-3067.
-
(1997)
J. Clin Endocrin. Metab.
, vol.82
, pp. 3063-3067
-
-
Nicolino, M.1
Ferlin, T.2
Forest, M.3
Godinot, C.4
Carrier, H.5
David, M.6
-
85
-
-
0031904289
-
Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies
-
Ohkoshi N., Ishii A., Shiraiwa N., Shoji S.I., Yoshizawa K. Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. J. Med. 1998, 29:13-29.
-
(1998)
J. Med.
, vol.29
, pp. 13-29
-
-
Ohkoshi, N.1
Ishii, A.2
Shiraiwa, N.3
Shoji, S.I.4
Yoshizawa, K.5
-
87
-
-
0030009124
-
MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy
-
Ohno K., Yamamoto M., Engel A.G., Harper C.M., Roberts L.R., Tan G.H. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ann. Neurol. 1996, 39:761-766.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 761-766
-
-
Ohno, K.1
Yamamoto, M.2
Engel, A.G.3
Harper, C.M.4
Roberts, L.R.5
Tan, G.H.6
-
88
-
-
0027268052
-
Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin dependent diabetics
-
Oka Y., Katagiri H., Yazaki Y., Murase T., Kobayashi T. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin dependent diabetics. Lancet 1993, 342:527-528.
-
(1993)
Lancet
, vol.342
, pp. 527-528
-
-
Oka, Y.1
Katagiri, H.2
Yazaki, Y.3
Murase, T.4
Kobayashi, T.5
-
89
-
-
0027968580
-
The high prevalence of diabetic patients with a mutation in the mitochondrial gene in Japan
-
Otabe S., Sakura H., Shimokawa K., Mori Y., Kadowaki H., Yasuda K., et al. The high prevalence of diabetic patients with a mutation in the mitochondrial gene in Japan. J. Clin. Endocrinol. Metab. 1994, 79:768-771.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.79
, pp. 768-771
-
-
Otabe, S.1
Sakura, H.2
Shimokawa, K.3
Mori, Y.4
Kadowaki, H.5
Yasuda, K.6
-
90
-
-
33846265321
-
Mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS): a case report, presentation, and management
-
Patel I.B., Sidani M., Zoorob R. Mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS): a case report, presentation, and management. Southern Med. J. 2007, 100:70-72.
-
(2007)
Southern Med. J.
, vol.100
, pp. 70-72
-
-
Patel, I.B.1
Sidani, M.2
Zoorob, R.3
-
91
-
-
0028350394
-
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)
-
Pilz D., Quarrell O.W., Jones E.W. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). J. Med. Genet. 1994, 31:328-330.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 328-330
-
-
Pilz, D.1
Quarrell, O.W.2
Jones, E.W.3
-
92
-
-
84870175102
-
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
-
Pitceathly R.D., Smith C., Fratter C., Alston C.L., He L., Craig K., et al. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012, 135:3392-3403.
-
(2012)
Brain
, vol.135
, pp. 3392-3403
-
-
Pitceathly, R.D.1
Smith, C.2
Fratter, C.3
Alston, C.L.4
He, L.5
Craig, K.6
-
93
-
-
0037096760
-
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study
-
Poulton J., Luan J., Macaulay V., Hennings S., Mitchell J., Wareham N.J. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum. Mol. Genet. 2002, 11:1581-1583.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1581-1583
-
-
Poulton, J.1
Luan, J.2
Macaulay, V.3
Hennings, S.4
Mitchell, J.5
Wareham, N.J.6
-
94
-
-
0026585685
-
Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia
-
Quade A., Zierz S., Klingmüller D. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin. Invest. 1992, 70:396-402.
-
(1992)
Clin. Invest.
, vol.70
, pp. 396-402
-
-
Quade, A.1
Zierz, S.2
Klingmüller, D.3
-
95
-
-
0034746790
-
Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study
-
Rahman S., Poulton J., Marchington D., Suomalainen A. Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am. J. Hum. Genet. 2001, 68:238-240.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
Suomalainen, A.4
-
96
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
-
Reardon W., Ross R., Sweeney M., Luxon L., Pembrey M., Harding A., et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992, 340:1376-1379.
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.2
Sweeney, M.3
Luxon, L.4
Pembrey, M.5
Harding, A.6
-
97
-
-
0030171199
-
Follow-up studies and disorders of endocrinologic function in MELAS syndrome
-
Robeck S., Stefan H., Engelhardt A., Neundörfer B. Follow-up studies and disorders of endocrinologic function in MELAS syndrome. Nervenarzt 1996, 67:465-470.
-
(1996)
Nervenarzt
, vol.67
, pp. 465-470
-
-
Robeck, S.1
Stefan, H.2
Engelhardt, A.3
Neundörfer, B.4
-
98
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
-
Rötig A., Bessis J.L., Romero N., Cormier V., Saudubray J.M., Narcy P., et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am. J. Hum. Genet. 1992, 50:364-370.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 364-370
-
-
Rötig, A.1
Bessis, J.L.2
Romero, N.3
Cormier, V.4
Saudubray, J.M.5
Narcy, P.6
-
100
-
-
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. 2007, 115:64-67.
-
(2007)
Acta Neurol. Scand.
, vol.115
, pp. 64-67
-
-
Sanaker, P.S.1
Husebye, E.S.2
Fondenes, O.3
Bindoff, L.A.4
-
101
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
Schaefer A.M., McFarland R., Blakely E.L., He L., Whittaker R.G., Taylor R.W., et al. Prevalence of mitochondrial DNA disease in adults. Ann. Neurol. 2008, 63:35-39.
-
(2008)
Ann. Neurol.
, vol.63
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
He, L.4
Whittaker, R.G.5
Taylor, R.W.6
-
102
-
-
0034051849
-
Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family
-
Schleiffer T., t'Hart L.M., Schurfeld C., Kraatz K., Riemann J.F. Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family. Exp. Clin. Endocrinol. Diabet. 2000, 108:81-85.
-
(2000)
Exp. Clin. Endocrinol. Diabet.
, vol.108
, pp. 81-85
-
-
Schleiffer, T.1
t'Hart, L.M.2
Schurfeld, C.3
Kraatz, K.4
Riemann, J.F.5
-
103
-
-
84869397441
-
Human mitochondrial DNA: roles of inherited and somatic mutations
-
Schon E.A., DiMauro S., Hirano M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat. Rev. Genet. 2012, 13:878-890.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 878-890
-
-
Schon, E.A.1
DiMauro, S.2
Hirano, M.3
-
104
-
-
0018374294
-
Computerised tomography in oculocraniosomatic disease (Kearns-Sayre syndrome)
-
Seigel R.S., Seeger J.F., Gabrielsen T.O., Allen R.J. Computerised tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). Radiology 1979, 130:159-164.
-
(1979)
Radiology
, vol.130
, pp. 159-164
-
-
Seigel, R.S.1
Seeger, J.F.2
Gabrielsen, T.O.3
Allen, R.J.4
-
105
-
-
0033503921
-
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA Leu A to G mutation
-
Smith P., Bain S., Good P., Hattersley A., Barnett A., Gibson J., et al. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA Leu A to G mutation. Opthalmology 1999, 106:1101-1108.
-
(1999)
Opthalmology
, vol.106
, pp. 1101-1108
-
-
Smith, P.1
Bain, S.2
Good, P.3
Hattersley, A.4
Barnett, A.5
Gibson, J.6
-
106
-
-
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., Schoenle E., Tuchschmid P., Caduff R., Sabato V., DeMattia D., 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. 1993, 152:44-50.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 44-50
-
-
Superti-Furga, A.1
Schoenle, E.2
Tuchschmid, P.3
Caduff, R.4
Sabato, V.5
DeMattia, D.6
-
107
-
-
0027939581
-
Leu(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Leu(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 1994, 37:818-825.
-
(1994)
Diabetologia
, vol.37
, pp. 818-825
-
-
Suzuki, S.1
Hinokio, Y.2
Hirai, S.3
Onoda, M.4
Matsumoto, M.5
Ohtomo, M.6
-
108
-
-
0030279938
-
Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271
-
Suzuki Y., Tsukuda K., Atsumi Y., Goto Y., Hosokawa K., Asahina T., et al. Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271. Diabet. Care 1996, 19:1304-1305.
-
(1996)
Diabet. Care
, vol.19
, pp. 1304-1305
-
-
Suzuki, Y.1
Tsukuda, K.2
Atsumi, Y.3
Goto, Y.4
Hosokawa, K.5
Asahina, T.6
-
111
-
-
65349196063
-
Impaired mitochondrial function and insulin resistance of skeletal muscle in mitochondrial diabetes
-
Szendroedi J., Schmid A.I., Meyerspeer M., Cervin C., Kacerovsky M., Smekal G., et al. Impaired mitochondrial function and insulin resistance of skeletal muscle in mitochondrial diabetes. Diabet. Care 2009, 32:677-679.
-
(2009)
Diabet. Care
, vol.32
, pp. 677-679
-
-
Szendroedi, J.1
Schmid, A.I.2
Meyerspeer, M.3
Cervin, C.4
Kacerovsky, M.5
Smekal, G.6
-
112
-
-
0034150023
-
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA
-
Tanaka K., Takaday Y., Matsunaka T., Yuyama S., Fujino S., Maguchi M., et al. Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Int. Med. 2000, 39:249-252.
-
(2000)
Int. Med.
, vol.39
, pp. 249-252
-
-
Tanaka, K.1
Takaday, Y.2
Matsunaka, T.3
Yuyama, S.4
Fujino, S.5
Maguchi, M.6
-
113
-
-
0033935242
-
A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic factor for maternally inherited Type 2 diabetes
-
Tawata M., Hayashi J., Isobe K., Ohkubo E., Ohtaka M., Chen J., et al. A new mitochondrial DNA mutation at 14577 T/C is probably a major pathogenic factor for maternally inherited Type 2 diabetes. Diabetes 2000, 49:1269-1272.
-
(2000)
Diabetes
, vol.49
, pp. 1269-1272
-
-
Tawata, M.1
Hayashi, J.2
Isobe, K.3
Ohkubo, E.4
Ohtaka, M.5
Chen, J.6
-
114
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor R.W., Schaefer A.M., Barron M.J., McFarland R., Turnbull D.M. The diagnosis of mitochondrial muscle disease. Neuromuscul. Disord. 2004, 14:237-245.
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
McFarland, R.4
Turnbull, D.M.5
-
115
-
-
0027996170
-
Prevalence of maternally inherited diabetes and deafness in diabetic populations in The Netherlands
-
t'Hart L.M., Lemkes H.H., Heine R.J., Stolk R.P., Feskens E.J., Jansen J.J., et al. Prevalence of maternally inherited diabetes and deafness in diabetic populations in The Netherlands. Diabetologia 1994, 37:1169-1170.
-
(1994)
Diabetologia
, vol.37
, pp. 1169-1170
-
-
t'Hart, L.M.1
Lemkes, H.H.2
Heine, R.J.3
Stolk, R.P.4
Feskens, E.J.5
Jansen, J.J.6
-
116
-
-
0027370108
-
The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin dependent diabetes mellitus
-
The Diabetes Control and Complications Trial Research Group The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin dependent diabetes mellitus. N. Engl. J. Med. 1993, 329:977-986.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 977-986
-
-
The Diabetes Control and Complications Trial Research Group1
-
117
-
-
84858414156
-
Incidence of diabetic retinopathy in people with Type 2 diabetes mellitus attending the diabetic retinopathy screening service for Wales: retrospective analysis
-
Thomas R.L., Dunstan F., Luzio S.D., Roy Chowdury S., Hale S.L., North R.V., et al. Incidence of diabetic retinopathy in people with Type 2 diabetes mellitus attending the diabetic retinopathy screening service for Wales: retrospective analysis. BMJ 2012, 344:e874.
-
(2012)
BMJ
, vol.344
-
-
Thomas, R.L.1
Dunstan, F.2
Luzio, S.D.3
Roy Chowdury, S.4
Hale, S.L.5
North, R.V.6
-
118
-
-
1642510041
-
Selective loss of pancreatic B-cells in a diabetic patient with a mitochondrial 3243 mutation
-
Togashi M., Yanada H., Iwasaki N., et al. Selective loss of pancreatic B-cells in a diabetic patient with a mitochondrial 3243 mutation. J. Jpn. Diabet. Soc. 2000, 43:455-458.
-
(2000)
J. Jpn. Diabet. Soc.
, vol.43
, pp. 455-458
-
-
Togashi, M.1
Yanada, H.2
Iwasaki, N.3
-
121
-
-
73249151195
-
Mitochondrial DNA mutations and human disease
-
Tuppen H.A., Blakely E.L., Turnbull D.M., Taylor R.W. Mitochondrial DNA mutations and human disease. Biochim. Biophys. Acta 2010, 1797:113-128.
-
(2010)
Biochim. Biophys. Acta
, vol.1797
, pp. 113-128
-
-
Tuppen, H.A.1
Blakely, E.L.2
Turnbull, D.M.3
Taylor, R.W.4
-
122
-
-
0030032394
-
Large-scale study of an A-to-G transition at position 3243 of the mitochondrial gene and IDDM in Japanese patients
-
Uchigata M., Mizota M., Yangisawa Y., Nakagawa Y., Otani T., Ikegami H., et al. Large-scale study of an A-to-G transition at position 3243 of the mitochondrial gene and IDDM in Japanese patients. Diabetologia 1996, 39:245-246.
-
(1996)
Diabetologia
, vol.39
, pp. 245-246
-
-
Uchigata, M.1
Mizota, M.2
Yangisawa, Y.3
Nakagawa, Y.4
Otani, T.5
Ikegami, H.6
-
123
-
-
0035016350
-
Hearing impairment in patients with 3243A>G mtDNA mutation: phenotype and rate of progression
-
Uimonen S., Moilanen J.S., Sorri M., Hassinen I.E., Majamaa K. Hearing impairment in patients with 3243A>G mtDNA mutation: phenotype and rate of progression. Hum. Genet. 2001, 108:284-289.
-
(2001)
Hum. Genet.
, vol.108
, pp. 284-289
-
-
Uimonen, S.1
Moilanen, J.S.2
Sorri, M.3
Hassinen, I.E.4
Majamaa, K.5
-
125
-
-
0034521838
-
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness
-
van Essen E., Roep B., t'Hart L., Jansen J., van den Ouweland J., Lemkes H., et al. HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness. Diabet. Med. 2000, 17:841-847.
-
(2000)
Diabet. Med.
, vol.17
, pp. 841-847
-
-
van Essen, E.1
Roep, B.2
t'Hart, L.3
Jansen, J.4
van den Ouweland, J.5
Lemkes, H.6
-
127
-
-
57049094373
-
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
-
Verny C., Amati-Bonneau P., Letournel F., Person B., Dib N., Malinge M.C., et al. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabet. Metab. 2008, 34:620-626.
-
(2008)
Diabet. Metab.
, vol.34
, pp. 620-626
-
-
Verny, C.1
Amati-Bonneau, P.2
Letournel, F.3
Person, B.4
Dib, N.5
Malinge, M.C.6
-
128
-
-
0030832950
-
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report
-
Vialettes B., Paquis-Fluckinger V., Pelissier J.-F., Bendahan D., Narbonne H., Silvestre-Aillaud P., et al. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. Diabet. Care 1997, 20:1731-1737.
-
(1997)
Diabet. Care
, vol.20
, pp. 1731-1737
-
-
Vialettes, B.1
Paquis-Fluckinger, V.2
Pelissier, J.-F.3
Bendahan, D.4
Narbonne, H.5
Silvestre-Aillaud, P.6
-
129
-
-
0027369567
-
Prevalence of mitochondrial gene mutations in families with diabetes mellitus
-
Vionnet N., Passa P., Froguel P. Prevalence of mitochondrial gene mutations in families with diabetes mellitus. Lancet 1993, 342:1429-1430.
-
(1993)
Lancet
, vol.342
, pp. 1429-1430
-
-
Vionnet, N.1
Passa, P.2
Froguel, P.3
-
130
-
-
56749180593
-
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes
-
Wai T., Teoli D., Shoubridge E.A. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. Nat. Genet. 2008, 40:1484-1488.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1484-1488
-
-
Wai, T.1
Teoli, D.2
Shoubridge, E.A.3
-
132
-
-
0028952456
-
Insulin sensitivity and mitochondrial gene mutation
-
Walker M., Taylor R.W., Stewart M., Bindoff L., Jackson M., Alberti K.G., et al. Insulin sensitivity and mitochondrial gene mutation. Diabet. Care 1995, 18:273-275.
-
(1995)
Diabet. Care
, vol.18
, pp. 273-275
-
-
Walker, M.1
Taylor, R.W.2
Stewart, M.3
Bindoff, L.4
Jackson, M.5
Alberti, K.G.6
-
133
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
-
134
-
-
34548501271
-
Prevalence and progression of diabetes in mitochondrial disease
-
Whittaker R.G., Schaefer A.M., McFarland R., Taylor R.W., Walker M., Turnbull D.M. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007, 50:2085-2089.
-
(2007)
Diabetologia
, vol.50
, pp. 2085-2089
-
-
Whittaker, R.G.1
Schaefer, A.M.2
McFarland, R.3
Taylor, R.W.4
Walker, M.5
Turnbull, D.M.6
-
135
-
-
62149101621
-
Urine heteroplasmy level is the best predictor of clinical outcome in patients with the m.3243A>G mtDNA mutation
-
Whittaker R.G., Blackwood J.K., Alston C., Blakely E.L., Elson J.L., McFarland R., et al. Urine heteroplasmy level is the best predictor of clinical outcome in patients with the m.3243A>G mtDNA mutation. Neurology 2009, 72:568-569.
-
(2009)
Neurology
, vol.72
, pp. 568-569
-
-
Whittaker, R.G.1
Blackwood, J.K.2
Alston, C.3
Blakely, E.L.4
Elson, J.L.5
McFarland, R.6
-
136
-
-
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., Grüters A., Kruse K., Rating D., Beetz R., Korenke G.C., 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. 1997, 41:193-200.
-
(1997)
Pediatr. Res.
, vol.41
, pp. 193-200
-
-
Wilichowski, E.1
Grüters, A.2
Kruse, K.3
Rating, D.4
Beetz, R.5
Korenke, G.C.6
-
137
-
-
84862794514
-
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency
-
Williams T.B., Daniels M., Puthenveetil G., Chang R., Wang R.Y., Abdenur J.E. Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. Mol. Genet. Metab. 2012, 106:104-107.
-
(2012)
Mol. Genet. Metab.
, vol.106
, pp. 104-107
-
-
Williams, T.B.1
Daniels, M.2
Puthenveetil, G.3
Chang, R.4
Wang, R.Y.5
Abdenur, J.E.6
-
138
-
-
59149103480
-
Abnormal growth in mitochondrial disease
-
Wolny S., McFarland R., Chinnery P., Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatr. 2009, 98:553-554.
-
(2009)
Acta Paediatr.
, vol.98
, pp. 553-554
-
-
Wolny, S.1
McFarland, R.2
Chinnery, P.3
Cheetham, T.4
-
139
-
-
84856284594
-
Mechanisms of mitochondrial diseases
-
Ylikallio E., Suomalainen A. Mechanisms of mitochondrial diseases. Ann. Med. 2012, 44:41-59.
-
(2012)
Ann. Med.
, vol.44
, pp. 41-59
-
-
Ylikallio, E.1
Suomalainen, A.2
-
141
-
-
77950244975
-
Multi-system neurological disease is common in patients with OPA1 mutations
-
Yu-Wai-Man P., Griffiths P.G., Gorman G.S., Lourenco C.M., Wright A.F., Auer-Grumbach M., et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010, 133:771-786.
-
(2010)
Brain
, vol.133
, pp. 771-786
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Gorman, G.S.3
Lourenco, C.M.4
Wright, A.F.5
Auer-Grumbach, M.6
|