-
1
-
-
0023240051
-
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
-
Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37: 761-767, 1987.
-
(1987)
Neurology
, vol.37
, pp. 761-767
-
-
Miyajima, H.1
Nishimura, Y.2
Mizoguchi, K.3
Sakamoto, M.4
Shimizu, T.5
Honda, N.6
-
2
-
-
0037354313
-
Aceruloplasminemia, an inherited disorder of iron metabolism
-
Miyajima H, Takahashi Y, Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 16: 205-213, 2003.
-
(2003)
Biometals
, vol.16
, pp. 205-213
-
-
Miyajima, H.1
Takahashi, Y.2
Kono, S.3
-
3
-
-
0014027719
-
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum
-
Osaki S, Johnson DA, Frieden E. The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. J Biol Chem 241: 2746-2751, 1966.
-
(1966)
J Biol Chem
, vol.241
, pp. 2746-2751
-
-
Osaki, S.1
Johnson, D.A.2
Frieden, E.3
-
4
-
-
0029800745
-
Expression of the ceruloplasmin gene in the human retina and brain: Implications for a pathogenic model in aceruloplasminemia
-
Klomp LWJ, Gitlin JD. Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum Mol Genet 5: 1989-1996, 1996.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1989-1996
-
-
Klomp, L.W.J.1
Gitlin, J.D.2
-
5
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RTA, Gitlin JD. Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci USA 92: 2539-2543, 1995.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
Serizawa, M.4
MacGillivray, R.T.A.5
Gitlin, J.D.6
-
6
-
-
33745870402
-
Molecular and pathological basis of aceruloplasminemia
-
Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biol Res 39: 15-23, 2006.
-
(2006)
Biol Res
, vol.39
, pp. 15-23
-
-
Kono, S.1
Miyajima, H.2
-
7
-
-
48049107099
-
The neurological presentation of ceruloplasmin gene mutations
-
McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 60: 200-205, 2008.
-
(2008)
Eur Neurol
, vol.60
, pp. 200-205
-
-
McNeill, A.1
Pandolfo, M.2
Kuhn, J.3
Shang, H.4
Miyajima, H.5
-
8
-
-
0041670918
-
Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene
-
Hatanaka Y, Okano T, Oda K, Yamamoto K, Yoshida K. Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene. Intern Med 42: 599-604, 2003.
-
(2003)
Intern Med
, vol.42
, pp. 599-604
-
-
Hatanaka, Y.1
Okano, T.2
Oda, K.3
Yamamoto, K.4
Yoshida, K.5
-
9
-
-
33748745745
-
Early onset insulindependent diabetes mellitus as an initial manifestation of aceruloplasminaemia
-
Muroi R, Yagyu H, Kobayashi H, et al. Early onset insulindependent diabetes mellitus as an initial manifestation of aceruloplasminaemia. Diabet Med 23: 1136-1139, 2006.
-
(2006)
Diabet Med
, vol.23
, pp. 1136-1139
-
-
Muroi, R.1
Yagyu, H.2
Kobayashi, H.3
-
10
-
-
0030027565
-
Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease
-
Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum Mol Genet 5: 81-84, 1996.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 81-84
-
-
Takahashi, Y.1
Miyajima, H.2
Shirabe, S.3
Nagataki, S.4
Suenaga, A.5
Gitlin, J.D.6
-
11
-
-
0032975154
-
A case of hereditary ceruloplasmin deficiency with hemosiderosis
-
(in Japanese, Abstract in English)
-
Nakane S, Shirabe S, Suenaga A, Yoshimura T, Nakamura T. A case of hereditary ceruloplasmin deficiency with hemosiderosis. Rinsho Shinkeigaku (Clin Neurol) 39: 347-351, 1999 (in Japanese, Abstract in English).
-
(1999)
Rinsho Shinkeigaku (Clin Neurol)
, vol.39
, pp. 347-351
-
-
Nakane, S.1
Shirabe, S.2
Suenaga, A.3
Yoshimura, T.4
Nakamura, T.5
-
12
-
-
34648836734
-
Pathology of hepatic iron overload
-
Deugnier Y, Turlin B. Pathology of hepatic iron overload. World J Gastroenterol 13: 4755-4760, 2007.
-
(2007)
World J Gastroenterol
, vol.13
, pp. 4755-4760
-
-
Deugnier, Y.1
Turlin, B.2
-
14
-
-
0033546624
-
Estimation of the gene frequency of aceruloplasminemia in Japan
-
Miyajima H, Kohno S, Takahashi Y, Yonekawa O, Kanno T. Estimation of the gene frequency of aceruloplasminemia in Japan. Neurology 53: 617-619, 1999.
-
(1999)
Neurology
, vol.53
, pp. 617-619
-
-
Miyajima, H.1
Kohno, S.2
Takahashi, Y.3
Yonekawa, O.4
Kanno, T.5
-
15
-
-
0023780847
-
Control of release of vasopressin by endocrine reflexes
-
Bisset GW, Chowdrey HS. Control of release of vasopressin by endocrine reflexes. Q J Exp Physiol 73: 811-872, 1988.
-
(1988)
Q J Exp Physiol
, vol.73
, pp. 811-872
-
-
Bisset, G.W.1
Chowdrey, H.S.2
-
16
-
-
0030982791
-
Osmoreceptors in the central nervous system
-
Bourque CW, Oliet SHR. Osmoreceptors in the central nervous system. Annu Rev Physiol 59: 601-619, 1997.
-
(1997)
Annu Rev Physiol
, vol.59
, pp. 601-619
-
-
Bourque, C.W.1
Oliet, S.H.R.2
-
17
-
-
0015243718
-
Control of thyrotropin secretion in man
-
Hershman JM, Pittmann JA Jr. Control of thyrotropin secretion in man. N Eng J Med 285: 997-1006, 1971.
-
(1971)
N Eng J Med
, vol.285
, pp. 997-1006
-
-
Hershman, J.M.1
Pittmann Jr., J.A.2
-
18
-
-
0038711587
-
Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system
-
Jeong SY, David S. Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system. J Biol Chem 278: 27144-27148, 2003.
-
(2003)
J Biol Chem
, vol.278
, pp. 27144-27148
-
-
Jeong, S.Y.1
David, S.2
-
19
-
-
49749087615
-
Redox active iron accumulation in aceruloplasminemia
-
Gonzalez-Cuyar LF, Perry G, Miyajima H, et al. Redox active iron accumulation in aceruloplasminemia. Neuropathology 28: 466-471, 2008.
-
(2008)
Neuropathology
, vol.28
, pp. 466-471
-
-
Gonzalez-Cuyar, L.F.1
Perry, G.2
Miyajima, H.3
-
20
-
-
0029007765
-
Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family
-
Morita H, Ikeda S, Yamamoto K, et al. Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family. Ann Neurol 37: 646-656, 1995.
-
(1995)
Ann Neurol
, vol.37
, pp. 646-656
-
-
Morita, H.1
Ikeda, S.2
Yamamoto, K.3
-
21
-
-
0015860874
-
Plasma thyrotropin response to thyrotropin-releasing hormone in patients with pituitary and hypothalamic disorders
-
Faglia G, Beck-Peccoz P, Ferrari C, et al. Plasma thyrotropin response to thyrotropin-releasing hormone in patients with pituitary and hypothalamic disorders. J Clin Endocrinol Metab 37: 595- 601, 1973.
-
(1973)
J Clin Endocrinol Metab
, vol.37
, pp. 595-601
-
-
Faglia, G.1
Beck-Peccoz, P.2
Ferrari, C.3
-
22
-
-
0015609796
-
Hypothalamic hypothyroidism: Diminished thyroidal response to thyrotropin-releasing hormone
-
Mitsuma T, Shenkman L, Suphavai A, Hollander CS. Hypothalamic hypothyroidism: diminished thyroidal response to thyrotropin-releasing hormone. Am J Med Sci 265: 315-319, 1973.
-
(1973)
Am J Med Sci
, vol.265
, pp. 315-319
-
-
Mitsuma, T.1
Shenkman, L.2
Suphavai, A.3
Hollander, C.S.4
-
23
-
-
0020630514
-
Excess of F- subunit of thyrotropin (TSH) in patients with idiopathic central hypothyroidism due to the secretion of TSH with reduced biological activity
-
Faglia G, Beck-Peccoz P, Ballabio M, Nava C. Excess of F- subunit of thyrotropin (TSH) in patients with idiopathic central hypothyroidism due to the secretion of TSH with reduced biological activity. J Clin Endocrinol Metab 56: 908-914, 1983.
-
(1983)
J Clin Endocrinol Metab
, vol.56
, pp. 908-914
-
-
Faglia, G.1
Beck-Peccoz, P.2
Ballabio, M.3
Nava, C.4
-
24
-
-
0036898075
-
Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia
-
Kaneko K, Yoshida K, Arima K, et al. Astrocytic deformity and globular structures are characteristic of the brains of patients with aceruloplasminemia. J Neuropathol Exp Neurol 61: 1069-1077, 2002.
-
(2002)
J Neuropathol Exp Neurol
, vol.61
, pp. 1069-1077
-
-
Kaneko, K.1
Yoshida, K.2
Arima, K.3
|