-
1
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geoffroy G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976; 3: 279-86.
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, G.3
-
2
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding A. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104: 598-620.
-
(1981)
Brain
, vol.104
, pp. 598-620
-
-
Harding, A.1
-
3
-
-
0024580326
-
Genetic homogeneity of the Friedreich ataxia locus on chromosome 9
-
Chamberlain S, Shaw J, Wallis J, et al. Genetic homogeneity of the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 1989; 44: 518-21.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 518-521
-
-
Chamberlain, S.1
Shaw, J.2
Wallis, J.3
-
4
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-27.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
5
-
-
0030813487
-
Studies of human, mouse and yeast homologue indicate a mitochondrial function for the frataxin
-
Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologue indicate a mitochondrial function for the frataxin. Nat Genet 1997; 16: 345-51.
-
(1997)
Nat Genet
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
-
6
-
-
0030791598
-
Frataxin gene of Friedreich's ataxia is targeted to mitochondria
-
Priller J, Scherzer CR, Faber PW, McDonals ME, Young AB. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol 1997; 42: 265-69.
-
(1997)
Ann Neurol
, vol.42
, pp. 265-269
-
-
Priller, J.1
Scherzer, C.R.2
Faber, P.W.3
McDonals, M.E.4
Young, A.B.5
-
7
-
-
0030846021
-
Regulation of mitochondial iron accumulation by Yfh 1p, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondial iron accumulation by Yfh 1p, a putative homolog of frataxin. Science 1997; 276: 1709-12.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
-
8
-
-
0031567601
-
Detection of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
Foury F, Cazzalini O. Detection of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997; 411: 373-77.
-
(1997)
FEBS Lett
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
9
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997; 16: 352-57.
-
(1997)
Nat Genet
, vol.16
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
10
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rötig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997; 17: 215-17.
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rötig, A.1
De Lonlay, P.2
Chretien, D.3
-
11
-
-
0028075773
-
Aconitase is a sensitive and critical target of oxygen poisoning in cultured mammalian cells in rat lungs
-
Gardner PR, Nguyen DDH, White CW. Aconitase is a sensitive and critical target of oxygen poisoning in cultured mammalian cells in rat lungs. Proc Natl Acad Sci USA 1994; 91: 12248-52.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 12248-12252
-
-
Gardner, P.R.1
Nguyen, D.D.H.2
White, C.W.3
-
12
-
-
0017031971
-
Pathology of the heart in Friedreich's ataxia: Review of the literature and report of one case
-
Sanchez-Casis G, Côté M, Barbeau A. Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case. Can J Neurol Sci 1977; 3: 349-54.
-
(1977)
Can J Neurol Sci
, vol.3
, pp. 349-354
-
-
Sanchez-Casis, G.1
Côté, M.2
Barbeau, A.3
-
14
-
-
0025203601
-
Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone; a review
-
Nz-Nagy I. Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone; a review. Arch Gerontol Geriatr 1990; 11: 177-86.
-
(1990)
Arch Gerontol Geriatr
, vol.11
, pp. 177-186
-
-
Nz-Nagy, I.1
-
15
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 35-51.
-
(1994)
Clin Chim Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
-
16
-
-
0028788763
-
Role of oxidative stress generated from the mitochondrial electron transport chain and mitochondrial glutathione status in loss of mitochondrial function and activation of transcription factor nuclear factor-KB: Studies with isolated mitochondria and rat hepatocytes
-
Garcia-Ruiz C, Colell A, Morales A, Kaplowitz N, Fernandez-Checa JC. Role of oxidative stress generated from the mitochondrial electron transport chain and mitochondrial glutathione status in loss of mitochondrial function and activation of transcription factor nuclear factor-KB: studies with isolated mitochondria and rat hepatocytes. Mol Pharmacol 1995; 48: 825-35.
-
(1995)
Mol Pharmacol
, vol.48
, pp. 825-835
-
-
Garcia-Ruiz, C.1
Colell, A.2
Morales, A.3
Kaplowitz, N.4
Fernandez-Checa, J.C.5
-
17
-
-
0029758487
-
Molecular control of vertebrate iron metabolism: MRNA based regulatory circuits operated by iron, nitric oxide, and oxidative stress
-
Hentze MW, Kühn LC. Molecular control of vertebrate iron metabolism: mRNA based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci USA 1996; 93: 8175-82.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 8175-8182
-
-
Hentze, M.W.1
Kühn, L.C.2
-
18
-
-
0019464939
-
Vitamin C and iron
-
Nienhuis AW. Vitamin C and iron. N Engl J Med 1981; 304: 170-71.
-
(1981)
N Engl J Med
, vol.304
, pp. 170-171
-
-
Nienhuis, A.W.1
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