-
1
-
-
0018164478
-
Pyruvate dehydrogenase complex in Friedreich's ataxia
-
Barbeau A, Melançon S, Butterworth RF, Filla A, Izumi K, Ngo TT (1978) Pyruvate dehydrogenase complex in Friedreich's ataxia. Adv Neurol 21:203-217
-
(1978)
Adv Neurol
, vol.21
, pp. 203-217
-
-
Barbeau, A.1
Melançon, S.2
Butterworth, R.F.3
Filla, A.4
Izumi, K.5
Ngo, T.T.6
-
2
-
-
0017031557
-
Pyruvate metabolism in Friedreich's ataxia
-
Barbeau A, Butterworth RF, Ngo TT, Breton G, Melancon S, Shapcott D, Geoffroy G, Lemieux B (1976) Pyruvate metabolism in Friedreich's ataxia. Can J Neurol Sci 3:379-388
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 379-388
-
-
Barbeau, A.1
Butterworth, R.F.2
Ngo, T.T.3
Breton, G.4
Melancon, S.5
Shapcott, D.6
Geoffroy, G.7
Lemieux, B.8
-
3
-
-
0026584524
-
Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illness?
-
Beal MF (1992) Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illness? Ann Neurol 31:119-130
-
(1992)
Ann Neurol
, vol.31
, pp. 119-130
-
-
Beal, M.F.1
-
4
-
-
0019135974
-
Friedreich's ataxia in northern Italy II. Biochemical studies in cultured cells
-
Bertagnolio B, Uziel G, Bottachi E, Crenna G, D'Angelo S, Donato DI (1980) Friedreich's ataxia in northern Italy II. Biochemical studies in cultured cells. Can J Neurol Sci 7:409-412
-
(1980)
Can J Neurol Sci
, vol.7
, pp. 409-412
-
-
Bertagnolio, B.1
Uziel, G.2
Bottachi, E.3
Crenna, G.4
D'Angelo, S.5
Donato, D.I.6
-
6
-
-
0017143791
-
Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia
-
Blass JP, Kark RA, Menon NK (1976) Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia. N Engl J Med 295:62-67
-
(1976)
N Engl J Med
, vol.295
, pp. 62-67
-
-
Blass, J.P.1
Kark, R.A.2
Menon, N.K.3
-
7
-
-
0027131501
-
Thiamine-dependent enzyme changes in the brains of alcoholics: Relationship to the Wernicke-Korsakoff syndrome
-
Butterworth RF, Kril JJ, Harper CG (1993) Thiamine-dependent enzyme changes in the brains of alcoholics: Relationship to the Wernicke-Korsakoff syndrome. Alcoholism: Clin Exp Res 17:1084-1088
-
(1993)
Alcoholism: Clin Exp Res
, vol.17
, pp. 1084-1088
-
-
Butterworth, R.F.1
Kril, J.J.2
Harper, C.G.3
-
9
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, Von Gabain AS, Farrall M, Williamson R (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248-250
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
Wallis, J.4
South, S.5
Nakamura, Y.6
Von Gabain, A.S.7
Farrall, M.8
Williamson, R.9
-
10
-
-
0019185739
-
Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia
-
Constantopoulos G, Chang CSC, Barranger JA (1980) Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia. Ann Neurol 8:636-639
-
(1980)
Ann Neurol
, vol.8
, pp. 636-639
-
-
Constantopoulos, G.1
Chang, C.S.C.2
Barranger, J.A.3
-
11
-
-
15844429176
-
Friedreich's ataxia: Intravenous pyruvate load to demonstrate a defect in pyruvate metabolism
-
Dijkstra U, Gabreels F, Joosten E, Wevers R, Lamers K, Doesburg W, Renier W (1984) Friedreich's ataxia: intravenous pyruvate load to demonstrate a defect in pyruvate metabolism. Neurology 29:1578-1583
-
(1984)
Neurology
, vol.29
, pp. 1578-1583
-
-
Dijkstra, U.1
Gabreels, F.2
Joosten, E.3
Wevers, R.4
Lamers, K.5
Doesburg, W.6
Renier, W.7
-
12
-
-
0020700869
-
Human muscle pyruvate dehydrogenase activity
-
Evans OB (1983) Human muscle pyruvate dehydrogenase activity. Neurology 33:51-56
-
(1983)
Neurology
, vol.33
, pp. 51-56
-
-
Evans, O.B.1
-
13
-
-
0017934950
-
Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia
-
Filla A, Butterworth RF, Geoffroy G, Lemieux B, Barbeau A (1978) Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia. Can J Neurol Sci 5:111-114
-
(1978)
Can J Neurol Sci
, vol.5
, pp. 111-114
-
-
Filla, A.1
Butterworth, R.F.2
Geoffroy, G.3
Lemieux, B.4
Barbeau, A.5
-
14
-
-
0019193078
-
Active pyruvate dehydrogenase in platelets from Friedreich's ataxia patients
-
Filla A, Butterworth RF, Barbeau A (1980) Active pyruvate dehydrogenase in platelets from Friedreich's ataxia patients. Can J Neurol Sci 7:417-419
-
(1980)
Can J Neurol Sci
, vol.7
, pp. 417-419
-
-
Filla, A.1
Butterworth, R.F.2
Barbeau, A.3
-
15
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP (1976) Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, G.3
Lemieux, B.4
Aube, M.5
Leger, C.6
Bouchard, J.P.7
-
16
-
-
0028138701
-
Decrease in cerebellar blood flow in patients with Friedreich's ataxia: A TC-HMPAO SPECT study of three cases
-
Giroud M, Septien E, Pelletier JL, Dueret N, Dumas R (1994) Decrease in cerebellar blood flow in patients with Friedreich's ataxia: A TC-HMPAO SPECT study of three cases. Neurol Res 16:342-344
-
(1994)
Neurol Res
, vol.16
, pp. 342-344
-
-
Giroud, M.1
Septien, E.2
Pelletier, J.L.3
Dueret, N.4
Dumas, R.5
-
17
-
-
0022459254
-
Immunological and biosynthetic studies on the mammalian 2-oxoglutarate dehydrogenase multienzyme complex
-
Hunter A, Lindsay JG (1986) Immunological and biosynthetic studies on the mammalian 2-oxoglutarate dehydrogenase multienzyme complex. Eur J Biochem 155:103-109
-
(1986)
Eur J Biochem
, vol.155
, pp. 103-109
-
-
Hunter, A.1
Lindsay, J.G.2
-
18
-
-
0028294943
-
Structural and functional brain imaging in Friedreich's ataxia
-
Junck E, Gilman S, Gebarski S, Koeppe RA, Kluin KJ, Markel DS (1994) Structural and functional brain imaging in Friedreich's ataxia. Arch Neurol 51:349-355
-
(1994)
Arch Neurol
, vol.51
, pp. 349-355
-
-
Junck, E.1
Gilman, S.2
Gebarski, S.3
Koeppe, R.A.4
Kluin, K.J.5
Markel, D.S.6
-
19
-
-
0018158136
-
Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia
-
Kark RAP, Rodriguez-Budelli M, Blass JP (1978) Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia. Adv Neurol 21:163-179
-
(1978)
Adv Neurol
, vol.21
, pp. 163-179
-
-
Kark, R.A.P.1
Rodriguez-Budelli, M.2
Blass, J.P.3
-
20
-
-
0018825161
-
Preclinical diagnosis and carrier detection in ataxia associated with abnormalities of lipoamide dehydrogenase
-
Kark RAP, Rodriguez-Budelli M, Perlman S, Gulley WF, Torok K (1980) Preclinical diagnosis and carrier detection in ataxia associated with abnormalities of lipoamide dehydrogenase. Neurology 30:502-508
-
(1980)
Neurology
, vol.30
, pp. 502-508
-
-
Kark, R.A.P.1
Rodriguez-Budelli, M.2
Perlman, S.3
Gulley, W.F.4
Torok, K.5
-
21
-
-
0019458135
-
Lipoamide dehydrogenase: Rapid heat inactivation in platelets of patients with recessively inherited ataxia
-
Kark RAP, Budelli MMR, Becker DM, Weiner EP, Forsythe AB (1981) Lipoamide dehydrogenase: Rapid heat inactivation in platelets of patients with recessively inherited ataxia. Neurology 31:199-202
-
(1981)
Neurology
, vol.31
, pp. 199-202
-
-
Kark, R.A.P.1
Budelli, M.M.R.2
Becker, D.M.3
Weiner, E.P.4
Forsythe, A.B.5
-
22
-
-
0016198883
-
Pyruvate oxidation in neuromuscular disease: Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia
-
Kark RAP, Blass JP, Engel KW (1974) Pyruvate oxidation in neuromuscular disease: Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia. Neurology 24:964-971
-
(1974)
Neurology
, vol.24
, pp. 964-971
-
-
Kark, R.A.P.1
Blass, J.P.2
Engel, K.W.3
-
23
-
-
0023255003
-
Brain cholineacetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy
-
Kish SJ, Currier RD, Schut L, Perly TL, Morito CL (1987) Brain cholineacetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. Ann Neurol 22:272-275
-
(1987)
Ann Neurol
, vol.22
, pp. 272-275
-
-
Kish, S.J.1
Currier, R.D.2
Schut, L.3
Perly, T.L.4
Morito, C.L.5
-
24
-
-
0021721469
-
The neuropathology of 'typical' Friedreich's ataxia in Quebec
-
Lamarche JB, Lemieux B, Lieu HB (1984) The neuropathology of 'typical' Friedreich's ataxia in Quebec. Can J Neurol Sci 11:592-600
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 592-600
-
-
Lamarche, J.B.1
Lemieux, B.2
Lieu, H.B.3
-
25
-
-
0024951855
-
Targeting of the 2-oxo acid dehydrogenase complexes to the mitochondrion
-
Lindsay JG (1989) Targeting of the 2-oxo acid dehydrogenase complexes to the mitochondrion. Ann NY Acad Sci 573:254-266
-
(1989)
Ann NY Acad Sci
, vol.573
, pp. 254-266
-
-
Lindsay, J.G.1
-
26
-
-
0018928435
-
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration
-
Livingstone IR, Mastaglias FL, Pennington RJT (1980) An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration. J Neurol Sci 48:123-132
-
(1980)
J Neurol Sci
, vol.48
, pp. 123-132
-
-
Livingstone, I.R.1
Mastaglias, F.L.2
Pennington, R.J.T.3
-
27
-
-
0028229120
-
Cerebellar α-ketoglutarate dehydrogenase activity is reduced in spinocerebellar ataxia type 1
-
Mastrogiacomo F, Kish SJ (1994) Cerebellar α-ketoglutarate dehydrogenase activity is reduced in spinocerebellar ataxia type 1. Ann Neurol 35:624-626
-
(1994)
Ann Neurol
, vol.35
, pp. 624-626
-
-
Mastrogiacomo, F.1
Kish, S.J.2
-
28
-
-
0027332651
-
Brain α-ketoglutarate dehydrogenase complex activity in Alzheimer's disease
-
Mastrogiacomo F, Bergeron C, Kish SJ (1993) Brain α-ketoglutarate dehydrogenase complex activity in Alzheimer's disease. J Neurochem 61:2007-2014
-
(1993)
J Neurochem
, vol.61
, pp. 2007-2014
-
-
Mastrogiacomo, F.1
Bergeron, C.2
Kish, S.J.3
-
30
-
-
0027371289
-
Metabolic and cognitive changes in hereditary ataxia
-
Matthew E, Nordahl T, Schut L, King AC, Cohen R (1993) Metabolic and cognitive changes in hereditary ataxia. J Neurol Sci 119:134-140
-
(1993)
J Neurol Sci
, vol.119
, pp. 134-140
-
-
Matthew, E.1
Nordahl, T.2
Schut, L.3
King, A.C.4
Cohen, R.5
-
31
-
-
0017931546
-
Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts
-
Melançon SB, Potier M, Dallaire L (1978) Lipoamide dehydrogenase in Friedreich's ataxia fibroblasts. Can J Neurol Sci 5:115-118
-
(1978)
Can J Neurol Sci
, vol.5
, pp. 115-118
-
-
Melançon, S.B.1
Potier, M.2
Dallaire, L.3
-
32
-
-
0028176592
-
An immunohistochemical study on α-ketoglutarate dehydrogenase complex in Parkinson's disease
-
Mizuno Y, Matuda S, Yoshino H, Mori H, Hattori N, Shin-Ichirou I (1994) An immunohistochemical study on α-ketoglutarate dehydrogenase complex in Parkinson's disease. Ann Neurol 35:204-210
-
(1994)
Ann Neurol
, vol.35
, pp. 204-210
-
-
Mizuno, Y.1
Matuda, S.2
Yoshino, H.3
Mori, H.4
Hattori, N.5
Shin-Ichirou, I.6
-
33
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr., Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221-226
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
35
-
-
0026664918
-
Sequences directing dihydrolipoamine dehydrogenase (E3) binding are located on the 2-oxoglutarate dehydrogenase (E1) component of the mammalian 2-oxoglutarate dehydrogenase multienzyme complex
-
Rice JE, Dunbar B, Lindsay JG (1992) Sequences directing dihydrolipoamine dehydrogenase (E3) binding are located on the 2-oxoglutarate dehydrogenase (E1) component of the mammalian 2-oxoglutarate dehydrogenase multienzyme complex. EMBO J 11:3229-3235
-
(1992)
EMBO J
, vol.11
, pp. 3229-3235
-
-
Rice, J.E.1
Dunbar, B.2
Lindsay, J.G.3
-
36
-
-
0028832215
-
Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the SCA-1 mutation define a unique phenotype
-
Robitaille Y, Schut L, Kish SJ (1995) Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the SCA-1 mutation define a unique phenotype. Acta Neuropathologica 90:572-581
-
(1995)
Acta Neuropathologica
, vol.90
, pp. 572-581
-
-
Robitaille, Y.1
Schut, L.2
Kish, S.J.3
-
37
-
-
0018079437
-
Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich's ataxia
-
Rodriguez-Budelli M, Kark P (1978) Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich's ataxia. Neurology 28:1283-1286
-
(1978)
Neurology
, vol.28
, pp. 1283-1286
-
-
Rodriguez-Budelli, M.1
Kark, P.2
-
38
-
-
0028387219
-
Abnormality of the α-ketoglutarate dehydrogenase complex in fibroblasts from familial Alzheimer's disease
-
Sheu K-FR, Cooper AJL, Koike K, Koike M, Lindsay JG, Blass JP (1994) Abnormality of the α-ketoglutarate dehydrogenase complex in fibroblasts from familial Alzheimer's disease. Ann Neurol 35:312-318
-
(1994)
Ann Neurol
, vol.35
, pp. 312-318
-
-
Sheu, K.-F.R.1
Cooper, A.J.L.2
Koike, K.3
Koike, M.4
Lindsay, J.G.5
Blass, J.P.6
-
39
-
-
0024325679
-
Abnormalities of mitochondrial enzymes in hereditary ataxias
-
Sorbi S, Piacentini S, Fani C, Tonini S, Marini P, Amaducci L (1989) Abnormalities of mitochondrial enzymes in hereditary ataxias. Acta Neurol Scand 80:103-110
-
(1989)
Acta Neurol Scand
, vol.80
, pp. 103-110
-
-
Sorbi, S.1
Piacentini, S.2
Fani, C.3
Tonini, S.4
Marini, P.5
Amaducci, L.6
-
40
-
-
0018087864
-
Friedreich's ataxia: I. Normal pyruvate dehydrogenase activity in platelets
-
Stumpf DA, Parks JK (1978) Friedreich's ataxia: I. Normal pyruvate dehydrogenase activity in platelets. Ann Neurol 4:366-368
-
(1978)
Ann Neurol
, vol.4
, pp. 366-368
-
-
Stumpf, D.A.1
Parks, J.K.2
|