-
1
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
-
Menkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29: 764-779.
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Steigleder, G.K.3
-
2
-
-
78651355486
-
The neurology of ATP7A copper transporter disease: Emerging concepts and future trends
-
Kaler SG,. The neurology of ATP7A copper transporter disease: emerging concepts and future trends. Nat Rev Neurol 2011; 7: 15-29.
-
(2011)
Nat Rev Neurol
, vol.7
, pp. 15-29
-
-
Kaler, S.G.1
-
3
-
-
0027500119
-
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease
-
Kaler SG, Goldstein DS, Holmes C, et al. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol 1993; 33: 171-175.
-
(1993)
Ann Neurol
, vol.33
, pp. 171-175
-
-
Kaler, S.G.1
Goldstein, D.S.2
Holmes, C.3
-
4
-
-
67349271590
-
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of Menkes disease
-
Goldstein DS, Holmes CS, Kaler SG,. Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of Menkes disease. Neurochem Res 2009; 34: 1464-1468.
-
(2009)
Neurochem Res
, vol.34
, pp. 1464-1468
-
-
Goldstein, D.S.1
Holmes, C.S.2
Kaler, S.G.3
-
5
-
-
0027270801
-
Spectrum of EEG findings in Menkes disease
-
White SR, Reese K, Sato S, Kaler SG,. Spectrum of EEG findings in Menkes disease. Electroencephalogr Clin Neurophysiol 1991; 87: 57-61.
-
(1991)
Electroencephalogr Clin Neurophysiol
, vol.87
, pp. 57-61
-
-
White, S.R.1
Reese, K.2
Sato, S.3
Kaler, S.G.4
-
6
-
-
77957559691
-
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
-
Kaler SG, Liew CJ, Donsante A, et al. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. J Inherit Metab Dis 2010; 33: 583-589.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 583-589
-
-
Kaler, S.G.1
Liew, C.J.2
Donsante, A.3
-
7
-
-
38949106566
-
Neonatal diagnosis and treatment of Menkes disease
-
Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008; 358: 605-614.
-
(2008)
N Engl J Med
, vol.358
, pp. 605-614
-
-
Kaler, S.G.1
Holmes, C.S.2
Goldstein, D.S.3
-
8
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
Kaler SG, Gallo LK, Proud VK, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 1994; 8: 195-202.
-
(1994)
Nat Genet
, vol.8
, pp. 195-202
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
-
9
-
-
53749093840
-
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
-
Tang J, Donsante A, Desai V, et al. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R. Mol Genet Metab 2008; 95: 174-181.
-
(2008)
Mol Genet Metab
, vol.95
, pp. 174-181
-
-
Tang, J.1
Donsante, A.2
Desai, V.3
-
10
-
-
0032485513
-
Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients
-
Christodoulou J, Danks DM, Sarkar B, et al. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998; 76: 154-164.
-
(1998)
Am J Med Genet
, vol.76
, pp. 154-164
-
-
Christodoulou, J.1
Danks, D.M.2
Sarkar, B.3
-
12
-
-
0025772671
-
Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation
-
Robertson D, Haile V, Perry SE, et al. Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension 1991; 18: 1-8.
-
(1991)
Hypertension
, vol.18
, pp. 1-8
-
-
Robertson, D.1
Haile, V.2
Perry, S.E.3
-
13
-
-
79953219050
-
Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine b-hydroxylase
-
Kim C, Leung A, Huh Y, et al. Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine b-hydroxylase. J Biol Chem 2011; 286: 9196-9204.
-
(2011)
J Biol Chem
, vol.286
, pp. 9196-9204
-
-
Kim, C.1
Leung, A.2
Huh, Y.3
-
14
-
-
0023637610
-
Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency
-
Biaggioni I, Robertson D,. Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. Lancet 1987; 2: 1170-1172.
-
(1987)
Lancet
, vol.2
, pp. 1170-1172
-
-
Biaggioni, I.1
Robertson, D.2
-
15
-
-
84920214489
-
Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency
-
Manin'tVeld AJ, Boomsma F, van den Meiracker AH, Schalekamp MA,. Effect of unnatural noradrenaline precursor on sympathetic control and orthostatic hypotension in dopamine-beta-hydroxylase deficiency. Lancet 1987; 2: 1172-1175.
-
(1987)
Lancet
, vol.2
, pp. 1172-1175
-
-
Manin'Tveld, A.J.1
Boomsma, F.2
Van Den Meiracker, A.H.3
Schalekamp, M.A.4
-
16
-
-
0028935117
-
Noradrenaline is essential for mouse fetal development
-
Thomas SA, Matsumoto AM, Palmiter RD,. Noradrenaline is essential for mouse fetal development. Nature 1995; 374: 643-646.
-
(1995)
Nature
, vol.374
, pp. 643-646
-
-
Thomas, S.A.1
Matsumoto, A.M.2
Palmiter, R.D.3
-
17
-
-
0031745285
-
Restoration of norepinephrine and reversal of phenotypes in mice lacking dopamine beta-hydroxylase
-
Thomas SA, Marck BT, Palmiter RD, Matsumoto AM,. Restoration of norepinephrine and reversal of phenotypes in mice lacking dopamine beta-hydroxylase. J Neurochem 1998; 70: 2468-2476.
-
(1998)
J Neurochem
, vol.70
, pp. 2468-2476
-
-
Thomas, S.A.1
Marck, B.T.2
Palmiter, R.D.3
Matsumoto, A.M.4
-
18
-
-
82955232408
-
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model
-
Donsante A, Yi L, Zerfas PM, et al. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther 2011; 19: 2114-2123.
-
(2011)
Mol Ther
, vol.19
, pp. 2114-2123
-
-
Donsante, A.1
Yi, L.2
Zerfas, P.M.3
-
19
-
-
84861878510
-
The noradrenaline precursor L-DOPS reduces pathology in a mouse model of Alzheimer's disease
-
Kalinin S, Polak PE, Lin SX, et al. The noradrenaline precursor L-DOPS reduces pathology in a mouse model of Alzheimer's disease. Neurobiol Aging 2012; 33: 1651-1663.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 1651-1663
-
-
Kalinin, S.1
Polak, P.E.2
Lin, S.X.3
-
20
-
-
78349272389
-
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain
-
Donsante A, Johnson P, Jansen LA, Kaler SG,. Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. Am J Med Genet A 2010; 152A: 2529-2534.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2529-2534
-
-
Donsante, A.1
Johnson, P.2
Jansen, L.A.3
Kaler, S.G.4
-
21
-
-
84866145480
-
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation
-
Haddad MR, Macri C, Holmes CS, et al. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Mol Genet Metab 2012; 107: 222-228.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 222-228
-
-
Haddad, M.R.1
Macri, C.2
Holmes, C.S.3
-
22
-
-
0034705724
-
3,4-Dihydroxyphenyl-acetaldehyde potentiates the toxic effects of metabolic stress in PC12 cells
-
Lamensdorf I, Eisenhofer G, Harvey-White J, et al. 3,4-Dihydroxyphenyl- acetaldehyde potentiates the toxic effects of metabolic stress in PC12 cells. Brain Res 2000; 868: 191-201.
-
(2000)
Brain Res
, vol.868
, pp. 191-201
-
-
Lamensdorf, I.1
Eisenhofer, G.2
Harvey-White, J.3
-
23
-
-
0034657779
-
Metabolic stress in PC12 cells induces the formation of the endogenous dopaminergic neurotoxin, 3,4-dihydroxyphenyl-acetaldehyde
-
Lamensdorf I, Eisenhofer G, Harvey-White J, et al. Metabolic stress in PC12 cells induces the formation of the endogenous dopaminergic neurotoxin, 3,4-dihydroxyphenyl-acetaldehyde. J Neurosci Res 2000; 60: 552-558.
-
(2000)
J Neurosci Res
, vol.60
, pp. 552-558
-
-
Lamensdorf, I.1
Eisenhofer, G.2
Harvey-White, J.3
-
24
-
-
34249794888
-
Neurotoxicity and metabolism of the catechol-amine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenyl-glycolaldehyde: The role of aldehyde dehydrogenase
-
Marchitti SA, Deitrich RA, Vasiliou V,. Neurotoxicity and metabolism of the catechol-amine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenyl-glycolaldehyde: the role of aldehyde dehydrogenase. Pharmacol Rev 2007; 59: 125-150.
-
(2007)
Pharmacol Rev
, vol.59
, pp. 125-150
-
-
Marchitti, S.A.1
Deitrich, R.A.2
Vasiliou, V.3
-
25
-
-
0028787768
-
An endogenous dopaminergic neurotoxin: Implication for Parkinson's disease
-
Mattammal MB, Haring JH, Chung HD, et al. An endogenous dopaminergic neurotoxin: implication for Parkinson's disease. Neurodegeneration 1995; 4: 271-281.
-
(1995)
Neurodegeneration
, vol.4
, pp. 271-281
-
-
Mattammal, M.B.1
Haring, J.H.2
Chung, H.D.3
-
26
-
-
77951749932
-
Contamination of the norepinephrine prodrug L-DOPS by dihydroxyphenylacetaldehyde
-
Holmes C, Whittaker N, Heredia-Moya J, Goldstein DS,. Contamination of the norepinephrine prodrug L-DOPS by dihydroxyphenylacetaldehyde. Clin Chem 2010; 56: 832-838.
-
(2010)
Clin Chem
, vol.56
, pp. 832-838
-
-
Holmes, C.1
Whittaker, N.2
Heredia-Moya, J.3
Goldstein, D.S.4
-
27
-
-
0033566854
-
Quantitation of 3,4-dihydroxyphenylacetaldehyde and 3, 4-dihydroxyphenylglycolaldehyde, the monoamine oxidase metabolites of dopamine and noradrenaline, in human tissues by microcolumn high-performance liquid chromatography
-
Burke WJ, Chung HD, Li SW,. Quantitation of 3,4- dihydroxyphenylacetaldehyde and 3, 4-dihydroxyphenylglycolaldehyde, the monoamine oxidase metabolites of dopamine and noradrenaline, in human tissues by microcolumn high-performance liquid chromatography. Anal Biochem 1999; 273: 111-116.
-
(1999)
Anal Biochem
, vol.273
, pp. 111-116
-
-
Burke, W.J.1
Chung, H.D.2
Li, S.W.3
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