-
1
-
-
0027490726
-
Hereditary triosephosphate isomerase (TPI) deficiency: Two severely affected brothers, one with and one without neurological symptoms
-
Hollán S, Fujii H, Hirono A, et al. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers, one with and one without neurological symptoms. Hum Genet 1993; 92:486-490.
-
(1993)
Hum. Genet.
, vol.92
, pp. 486-490
-
-
Hollán, S.1
Fujii, H.2
Hirono, A.3
-
2
-
-
0027501595
-
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240
-
Chang ML, Artymiuk PL Wu X, Hollán S, Lammi A, Maquat LE. Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. Am J Hum Genet 1993;52:1260-1269.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1260-1269
-
-
Chang, M.L.1
Artymiuk, P.L.2
Wu, X.3
Hollán, S.4
Lammi, A.5
Maquat, L.E.6
-
3
-
-
0034112253
-
Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes
-
Valentin C, Cohen-Solal M, Maquat L, Horányi M, Inselt-Kovács M, Hollán S. Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes. C R Acad Sci III 2000;323:245-250.
-
(2000)
C. R. Acad. Sci. III
, vol.323
, pp. 245-250
-
-
Valentin, C.1
Cohen-Solal, M.2
Maquat, L.3
Horányi, M.4
Inselt-Kovács, M.5
Hollán, S.6
-
4
-
-
0030963843
-
Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency
-
Hollán S, Magócsi M, Fodor E, Horányi M, Harsányi V, Farkas T. Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency. Proc Natl Acad Sci USA 1997;94:10362-10366.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 10362-10366
-
-
Hollán, S.1
Magócsi, M.2
Fodor, E.3
Horányi, M.4
Harsányi, V.5
Farkas, T.6
-
5
-
-
0035892130
-
Distinct behaviour of mutant triosephosphate isomerase in hemolysate and in isolated form: Molecular basis of enzyme deficiency
-
Orosz F, Oláh J, Alvarez M. et al. Distinct behaviour of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. Blood 2001;98:3106-3112.
-
(2001)
Blood
, vol.98
, pp. 3106-3112
-
-
Orosz, F.1
Oláh, J.2
Alvarez, M.3
-
6
-
-
50549166525
-
A sensitive and specific assay for the estimation of monoamine oxidase
-
Wurtman RJ, Axelrod J. A sensitive and specific assay for the estimation of monoamine oxidase. Biochem Pharmacol 1963;12: 1417-1419.
-
(1963)
Biochem. Pharmacol.
, vol.12
, pp. 1417-1419
-
-
Wurtman, R.J.1
Axelrod, J.2
-
8
-
-
0030025175
-
A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea
-
Watanabe M, Abe K, Aoki M. A reproducible assay of polymerase chain reaction to detect trinucleotide repeat expansion of Huntington's disease and senile chorea. Neurol Res 1996;18:16-18.
-
(1996)
Neurol. Res.
, vol.18
, pp. 16-18
-
-
Watanabe, M.1
Abe, K.2
Aoki, M.3
-
10
-
-
0034431493
-
Triosephosphate isomerase deficiency: Historical perspectives and molecular aspects
-
Schneider AS. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects. Balliéres Best Pract Res Clin Haematol 2000;13:119-140.
-
(2000)
Balliéres Best Pract. Res. Clin. Haematol.
, vol.13
, pp. 119-140
-
-
Schneider, A.S.1
-
11
-
-
0021798915
-
Neurological findings in triosephosphate isomerase deficiency
-
Poll-The BT, Aicardi J, Girot R, Rosa R. Neurological findings in triosephosphate isomerase deficiency. Ann Neurol 1985;17:440-443.
-
(1985)
Ann. Neurol.
, vol.17
, pp. 440-443
-
-
Poll-The, B.T.1
Aicardi, J.2
Girot, R.3
Rosa, R.4
-
12
-
-
0034212341
-
Neuronal cell death in Huntington's disease: A potential role for dopamine
-
Jakel RJ, Maragos WF. Neuronal cell death in Huntington's disease: a potential role for dopamine. Trends Neurosci 2000;23:239-245.
-
(2000)
Trends Neurosci.
, vol.23
, pp. 239-245
-
-
Jakel, R.J.1
Maragos, W.F.2
-
13
-
-
0030300166
-
Deprenyl in the treatment of Parkinson's disease: Clinical effects and speculations on mechanism of action
-
Olanow CW. Deprenyl in the treatment of Parkinson's disease: clinical effects and speculations on mechanism of action. J Neural Transm 1996;48:75-84.
-
(1996)
J. Neural Transm.
, vol.48
, pp. 75-84
-
-
Olanow, C.W.1
-
14
-
-
0002842768
-
Pharmacology of monoamine oxidase type-B inhibitors and clinical use in neurodegenerative disorders
-
Szelényi I, editor. Basel: Birkhaus Verlag
-
Magyar K. Pharmacology of monoamine oxidase type-B inhibitors and clinical use in neurodegenerative disorders. In: Szelényi I, editor. Inhibitors of monoamine oxidase-B. Basel: Birkhaus Verlag; 1993. p 125-143.
-
(1993)
Inhibitors of Monoamine Oxidase-B
, pp. 125-143
-
-
Magyar, K.1
-
15
-
-
0035979183
-
Trace amines: Identification of a family of mammalian G protein-coupled receptors
-
Iversen LL, editor. Oxford: University of Oxford
-
Borowsky B, Adham N, Jones KA, et al. Trace amines: identification of a family of mammalian G protein-coupled receptors. In: Iversen LL, editor. Synaptic pharmaceutical corporation. Oxford: University of Oxford; 2001. p 8966-8971.
-
(2001)
Synaptic Pharmaceutical Corporation
, pp. 8966-8971
-
-
Borowsky, B.1
Adham, N.2
Jones, K.A.3
-
16
-
-
0034143866
-
Diminished blood levels of reduced glutathione and α-tocopherol in triosephosphate isomerase deficient brothers
-
Karg E, Németh I, Horányi M, Pintér S, Vé csei L, Hollán S. Diminished blood levels of reduced glutathione and α-tocopherol in triosephosphate isomerase deficient brothers. Blood Cells Mol Dis 2000;26:91-100.
-
(2000)
Blood Cells Mol. Dis.
, vol.26
, pp. 91-100
-
-
Karg, E.1
Németh, I.2
Horányi, M.3
Pintér, S.4
Vé csei, L.5
Hollán, S.6
-
17
-
-
0014965307
-
Human brain monoamine oxidase: Multiple forms and selective inhibitors
-
Collins GG, Sandler M, Williams AD, Youdim MB. Human brain monoamine oxidase: multiple forms and selective inhibitors. Nature 1970;225:817-820.
-
(1970)
Nature
, vol.225
, pp. 817-820
-
-
Collins, G.G.1
Sandler, M.2
Williams, A.D.3
Youdim, M.B.4
-
18
-
-
0027442475
-
Abnormal behaviour associated with a point mutation in the structural gene for monoamine oxidase A
-
Brunner HG, Nelen M, Breakfield XO, Ropers HH. Abnormal behaviour associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993;262:578-580.
-
(1993)
Science
, vol.262
, pp. 578-580
-
-
Brunner, H.G.1
Nelen, M.2
Breakfield, X.O.3
Ropers, H.H.4
-
19
-
-
0032545190
-
Transcription factor binding to the core promoter of the human monoamine oxidase B gene in the cerebral cortex and in blood cells
-
Ekblom J, Garpenstrand H, Damberg M, Chen K, Shih JC, Oreland L. Transcription factor binding to the core promoter of the human monoamine oxidase B gene in the cerebral cortex and in blood cells. Neurosci Lett 1998;258:101-104.
-
(1998)
Neurosci. Lett.
, vol.258
, pp. 101-104
-
-
Ekblom, J.1
Garpenstrand, H.2
Damberg, M.3
Chen, K.4
Shih, J.C.5
Oreland, L.6
-
20
-
-
0036231440
-
Impact of sustained deprenyl (selegiline) in levodopa-treated Parkinson's disease: A randomized placebo-controlled extension of the deprenyl and tocopherol antioxidative therapy of parkinsonism trial
-
Shoulson I, Oakes D, Fahn S, et al. Impact of sustained deprenyl (selegiline) in levodopa-treated Parkinson's disease: a randomized placebo-controlled extension of the deprenyl and tocopherol antioxidative therapy of parkinsonism trial. Ann Neurol 2002;51:604-612.
-
(2002)
Neurol. Ann.
, vol.51
, pp. 604-612
-
-
Shoulson, I.1
Oakes, D.2
Fahn, S.3
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