-
1
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmophlegia, and complete heart block: Unusual syndrome with histologic study in one of two cases
-
KEARNS TP, SAYRE GP. Retinitis pigmentosa, external ophthalmophlegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60:280-9.
-
(1958)
AMA Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
KEARNS, T.P.1
SAYRE, G.P.2
-
2
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver CR SW, Valle D eds, New York: McGraw-Hill
-
SCHONER J. Oxidative phosphorylation diseases. In: Scriver CR SW, Valle D eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995;1535-629.
-
(1995)
The metabolic and molecular bases of inherited disease
, pp. 1535-1629
-
-
SCHONER, J.1
-
3
-
-
0032980279
-
Mitochondrial disorders: Clinical and genetic features
-
SIMON DK, JOHNS DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111-27.
-
(1999)
Annu Rev Med
, vol.50
, pp. 111-127
-
-
SIMON, D.K.1
JOHNS, D.R.2
-
4
-
-
4143130217
-
Risk of developing a mitochondrial DNA deletion disorder
-
CHINNERY PF, DIMAURO S, SHANSKE S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364:592-6.
-
(2004)
Lancet
, vol.364
, pp. 592-596
-
-
CHINNERY, P.F.1
DIMAURO, S.2
SHANSKE, S.3
-
5
-
-
0026773036
-
Endocrine dysfunction in Kearns-Sayre syndrome
-
HARVEY JN, BARNETT D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf) 1992;37:97-103.
-
(1992)
Clin Endocrinol (Oxf)
, vol.37
, pp. 97-103
-
-
HARVEY, J.N.1
BARNETT, D.2
-
6
-
-
0031595077
-
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease
-
BOLES RG, ROE T, SENADHEERA D, MAHNOVSKI V, WONG LJ. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr 1998;157:643-7.
-
(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
-
7
-
-
0030009124
-
MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy
-
OHNO K, YAMAMOTO M, ENGEL AG, et al. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ann Neurol 1996;39:761-6.
-
(1996)
Ann Neurol
, vol.39
, pp. 761-766
-
-
OHNO, K.1
YAMAMOTO, M.2
ENGEL, A.G.3
-
8
-
-
0036715554
-
A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy
-
BERIO A, PIAZZI A. A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. Panminerva Med 2002;44:265-9.
-
(2002)
Panminerva Med
, vol.44
, pp. 265-269
-
-
BERIO, A.1
PIAZZI, A.2
-
9
-
-
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, 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- 200.
-
(1996)
Diabetologia
, vol.39
, pp. 1196-1200
-
-
KOBAYASHI, T.1
OKA, Y.2
KATAGIRI, H.3
-
10
-
-
0031656184
-
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome
-
ARTUCH R, PAVIA C, PLAYAN A, et al. Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. Horm Res 1998;50:99-104.
-
(1998)
Horm Res
, vol.50
, pp. 99-104
-
-
ARTUCH, R.1
PAVIA, C.2
PLAYAN, A.3
-
11
-
-
0027939581
-
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA (LEU(UUR)) gene: A study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
-
SUZUKI S, HINOKIO Y, HIRAI S, et al. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA (LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 1994;37:818-25.
-
(1994)
Diabetologia
, vol.37
, pp. 818-825
-
-
SUZUKI, S.1
HINOKIO, Y.2
HIRAI, S.3
-
12
-
-
33745779229
-
-
DE ANDRADE PB, RUBI B, FRIGERIO F, VAN DEN OUWELAND JM, MAASSEN JA, MAECHLER P. Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. Diabetologia 2006;49:1816-26.
-
DE ANDRADE PB, RUBI B, FRIGERIO F, VAN DEN OUWELAND JM, MAASSEN JA, MAECHLER P. Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. Diabetologia 2006;49:1816-26.
-
-
-
-
13
-
-
0033793974
-
Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure
-
VAIDYA B, PEARCE S, KENDALL-TAYLOR P. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. Clin Endocrinol (Oxf) 2000;53:403-18.
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 403-418
-
-
VAIDYA, B.1
PEARCE, S.2
KENDALL-TAYLOR, P.3
-
15
-
-
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, et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol (Oxf) 1996;45:637-41.
-
(1996)
Clin Endocrinol (Oxf)
, vol.45
, pp. 637-641
-
-
ISOTANI, H.1
FUKUMOTO, Y.2
KAWAMURA, H.3
-
16
-
-
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;342:527-8.
-
(1993)
Lancet
, vol.342
, pp. 527-528
-
-
OKA, Y.1
KATAGIRI, H.2
YAZAKI, Y.3
MURASE, T.4
KOBAYASHI, T.5
-
17
-
-
0022368402
-
Pulmonary function and ventilatory response to chemical stimuli in familial myopathy
-
WENG TR, SCHULTZ GE, CHANG CH, NIGRO MA. Pulmonary function and ventilatory response to chemical stimuli in familial myopathy. Chest 1985;88:488-95.
-
(1985)
Chest
, vol.88
, pp. 488-495
-
-
WENG, T.R.1
SCHULTZ, G.E.2
CHANG, C.H.3
NIGRO, M.A.4
-
18
-
-
0023905548
-
Mitochondrial encephalomyopathy with sleep apnea
-
TATSUMI C, TAKAHASHI M, YORIFUJI S, et al. Mitochondrial encephalomyopathy with sleep apnea. Eur Neurol 1988;28:64-9.
-
(1988)
Eur Neurol
, vol.28
, pp. 64-69
-
-
TATSUMI, C.1
TAKAHASHI, M.2
YORIFUJI, S.3
-
19
-
-
0023547045
-
Automatic respiratory failure: Sleep studies and Leigh's disease (case report)
-
CUMMISKEY J, GUILLEMINAULT C, DAVIS R, DUNCAN K, GOLDEN J. Automatic respiratory failure: sleep studies and Leigh's disease (case report). Neurology 1987;37:1876-8.
-
(1987)
Neurology
, vol.37
, pp. 1876-1878
-
-
CUMMISKEY, J.1
GUILLEMINAULT, C.2
DAVIS, R.3
DUNCAN, K.4
GOLDEN, J.5
-
20
-
-
0025177328
-
Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies
-
BAROHN RJ, CLANTON T, SAHENK Z, MENDELL JR. Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies. Neurology 1990;40:103-6.
-
(1990)
Neurology
, vol.40
, pp. 103-106
-
-
BAROHN, R.J.1
CLANTON, T.2
SAHENK, Z.3
MENDELL, J.R.4
-
21
-
-
0017237183
-
Depressed ventilatory response in oculocraniosomatic neuromuscular disease
-
CARROLL JE, ZWILLICH C, WEIL JV, BROOKE MH. Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology 1976;26:140-6.
-
(1976)
Neurology
, vol.26
, pp. 140-146
-
-
CARROLL, J.E.1
ZWILLICH, C.2
WEIL, J.V.3
BROOKE, M.H.4
-
22
-
-
0034919482
-
Hypoxic ventilatory depression in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
OSANAI S, TAKAHASHI T, ENOMOTO H, et al. Hypoxic ventilatory depression in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Respirology 2001;6:163-6.
-
(2001)
Respirology
, vol.6
, pp. 163-166
-
-
OSANAI, S.1
TAKAHASHI, T.2
ENOMOTO, H.3
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