-
1
-
-
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 AE. 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;104:589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
2
-
-
0742304137
-
GAA repeats and clinical variation in Friedreich's ataxia
-
Mateo I, Llorca J, Volpini V, Corral J, Berciano J, Combarros O et al. GAA repeats and clinical variation in Friedreich's ataxia. Acta Neurol Scand 2004;109:75-8.
-
(2004)
Acta Neurol Scand
, vol.109
, pp. 75-78
-
-
Mateo, I.1
Llorca, J.2
Volpini, V.3
Corral, J.4
Berciano, J.5
Combarros, O.6
-
3
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Contermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Contermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
-
4
-
-
9844222853
-
Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S. Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
-
5
-
-
0034778511
-
Frataxin expression rescues mitochondrial dysfunctions in FA cells
-
Tan G, Chen LS, Lonnerdal B, Gellera C, Taroni FA, Cortopassi GA. Frataxin expression rescues mitochondrial dysfunctions in FA cells. Hum Mol Gen 2001;19:2099-107.
-
(2001)
Hum Mol Gen
, vol.19
, pp. 2099-2107
-
-
Tan, G.1
Chen, L.S.2
Lonnerdal, B.3
Gellera, C.4
Taroni, F.A.5
Cortopassi, G.A.6
-
6
-
-
14944387002
-
Iron trafficking in the mitochondrion: Novel pathways revealed by disease
-
Napier I, Ponka P, Richardson DR. Iron trafficking in the mitochondrion: novel pathways revealed by disease. Blood 2005;105:1867-74.
-
(2005)
Blood
, vol.105
, pp. 1867-1874
-
-
Napier, I.1
Ponka, P.2
Richardson, D.R.3
-
7
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001;27:181-6.
-
(2001)
Nat Genet
, vol.27
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
-
8
-
-
14844337832
-
Friedreich's ataxia: No changes in mitochondrial labile iron in human lymphocytes and fibroblasts A decrease in antioxidative capacity?
-
Sturm B, Bistrich U, Schranzhofer M, Sarsero JP, Rauen U, Scheiber-Mojdehkar B et al. Friedreich's ataxia: no changes in mitochondrial labile iron in human lymphocytes and fibroblasts A decrease in antioxidative capacity? J Biol Chem 2005;280:6701-8.
-
(2005)
J Biol Chem
, vol.280
, pp. 6701-6708
-
-
Sturm, B.1
Bistrich, U.2
Schranzhofer, M.3
Sarsero, J.P.4
Rauen, U.5
Scheiber-Mojdehkar, B.6
-
9
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AHV. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Gen 2000;9:275-82.
-
(2000)
Hum Mol Gen
, vol.9
, pp. 275-282
-
-
Bradley, J.L.1
Blake, J.C.2
Chamberlain, S.3
Thomas, P.K.4
Cooper, J.M.5
Schapira, A.H.V.6
-
10
-
-
3042763187
-
Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
-
Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, Szweda LI. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 2004;305:242-4.
-
(2004)
Science
, vol.305
, pp. 242-244
-
-
Bulteau, A.L.1
O'Neill, H.A.2
Kennedy, M.C.3
Ikeda-Saito, M.4
Isaya, G.5
Szweda, L.I.6
-
11
-
-
0034014830
-
Increased serum transferrin receptor concentrations in Friedreich's ataxia
-
Wilson RB, Lynch DR, Farmer JM, Brooks DG, Fischbeck KH. Increased serum transferrin receptor concentrations in Friedreich's ataxia. Ann Neurol 2000;47:659-61.
-
(2000)
Ann Neurol
, vol.47
, pp. 659-661
-
-
Wilson, R.B.1
Lynch, D.R.2
Farmer, J.M.3
Brooks, D.G.4
Fischbeck, K.H.5
-
12
-
-
0035838321
-
Serum transferrin receptor levels in Friedreich's and other degenerative ataxias
-
Scarano V, de Cristofaro T, De Michele G, Salvatore E, De Biase I, Monticelli A et al. Serum transferrin receptor levels in Friedreich's and other degenerative ataxias. Neurology 2001;57:159-60.
-
(2001)
Neurology
, vol.57
, pp. 159-160
-
-
Scarano, V.1
De Cristofaro, T.2
De Michele, G.3
Salvatore, E.4
De Biase, I.5
Monticelli, A.6
-
13
-
-
0036766537
-
Normal levels of soluble transferrin receptor in Friedreich's ataxia
-
Sitte K, Zaibak F, Delatycki MB, Ioannou PA. Normal levels of soluble transferrin receptor in Friedreich's ataxia. Clin Genet 2002;62:250-1.
-
(2002)
Clin Genet
, vol.62
, pp. 250-251
-
-
Sitte, K.1
Zaibak, F.2
Delatycki, M.B.3
Ioannou, P.A.4
-
14
-
-
0031903392
-
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia
-
Wilson RB, Lynch DR, Fischbeck KH. Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia. Ann Neural 1998;44:132-4.
-
(1998)
Ann Neural
, vol.44
, pp. 132-134
-
-
Wilson, R.B.1
Lynch, D.R.2
Fischbeck, K.H.3
-
15
-
-
21244448393
-
Frataxin and mitochondrial carrier proteins, Mrs3p and Mrs4p, cooperate in providing iron for heme synthesis
-
Zhang Y, Lyver ER, Knight SAB, Lesuisse E, Dancis A. Frataxin and mitochondrial carrier proteins, Mrs3p and Mrs4p, cooperate in providing iron for heme synthesis. J Biol Chem 2005;280:19794-807.
-
(2005)
J Biol Chem
, vol.280
, pp. 19794-19807
-
-
Zhang, Y.1
Lyver, E.R.2
Knight, S.A.B.3
Lesuisse, E.4
Dancis, A.5
-
16
-
-
2542556601
-
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
-
Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 2004;13:1017-24.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1017-1024
-
-
Seznec, H.1
Simon, D.2
Monassier, L.3
Criqui-Filipe, P.4
Gansmuller, A.5
Rustin, P.6
-
17
-
-
0038448961
-
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich's ataxia
-
Sarsero JP, Li L, Wardan H, Sitte K, Williamson R, Ioannou PA. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich's ataxia. J Gene Med 2003;5:72-81.
-
(2003)
J Gene Med
, vol.5
, pp. 72-81
-
-
Sarsero, J.P.1
Li, L.2
Wardan, H.3
Sitte, K.4
Williamson, R.5
Ioannou, P.A.6
-
18
-
-
0141670832
-
3-Nitropropionic acid increases frataxin expression in human lymphocytes and in transgenic rat PC12 cells
-
Turano M, Tammaro A, De Biase I, Lo Casale MS, Ruggiero G, Monticelli A. 3-Nitropropionic acid increases frataxin expression in human lymphocytes and in transgenic rat PC12 cells. Neurosi Lett 2003;350:184-6.
-
(2003)
Neurosi Lett
, vol.350
, pp. 184-186
-
-
Turano, M.1
Tammaro, A.2
De Biase, I.3
Lo Casale, M.S.4
Ruggiero, G.5
Monticelli, A.6
-
19
-
-
0042318834
-
Cisplatin may induce frataxin expression
-
Ghazizadeh M. Cisplatin may induce frataxin expression. J Nippon Med Sch 2003;70:367-71.
-
(2003)
J Nippon Med Sch
, vol.70
, pp. 367-371
-
-
Ghazizadeh, M.1
-
20
-
-
9644278256
-
Beneficial effect of erythropoietin on experimental allergic encephalomyelitis
-
Li W, Maeda Y, Rong Yuang R, Elkabes S, Cook S, Dowling P. Beneficial Effect of Erythropoietin on Experimental Allergic Encephalomyelitis. Ann Neurol 2004;56:767-77.
-
(2004)
Ann Neurol
, vol.56
, pp. 767-777
-
-
Li, W.1
Maeda, Y.2
Rong Yuang, R.3
Elkabes, S.4
Cook, S.5
Dowling, P.6
-
22
-
-
0036431388
-
Erythropoietin in the central nervous system and its use to prevent hypo-ischemic brain damage
-
Juul S. Erythropoietin in the central nervous system and its use to prevent hypo-ischemic brain damage. Acta Paediatr Suppl 2002;91:36-42.
-
(2002)
Acta Paediatr Suppl
, vol.91
, pp. 36-42
-
-
Juul, S.1
-
24
-
-
3142598688
-
An update on the cardiac effects of erythropoietin cardioprotection by erythropoietin and the lessons learnt from studies in neuroprotection
-
Bogoyevitch MA. An update on the cardiac effects of erythropoietin cardioprotection by erythropoietin and the lessons learnt from studies in neuroprotection. Cardiovascular Res 2004;63:208-16.
-
(2004)
Cardiovascular Res
, vol.63
, pp. 208-216
-
-
Bogoyevitch, M.A.1
-
25
-
-
18744386925
-
Plasminogen activator inhibitor 1 expression is regulated by the inflammatory mediators interleukin-1 alpha, tumor necrosis factor-alpha, transforming growth factor-beta and oncostatin M in human cardiac myocytes
-
Macfelda K, Weiss TW, Kaun C, Breuss JM, Zorn G, Oberndorfer U et al. Plasminogen activator inhibitor 1 expression is regulated by the inflammatory mediators interleukin-1 alpha, tumor necrosis factor-alpha, transforming growth factor-beta and oncostatin M in human cardiac myocytes. J Mol Cell Cardiol 2002;34:1681-91.
-
(2002)
J Mol Cell Cardiol
, vol.34
, pp. 1681-1691
-
-
Macfelda, K.1
Weiss, T.W.2
Kaun, C.3
Breuss, J.M.4
Zorn, G.5
Oberndorfer, U.6
-
26
-
-
0035445849
-
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
-
Santos MM, Ohshima K, Pandolfo M. Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum Mol Genet 2001;10:1935-44.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1935-1944
-
-
Santos, M.M.1
Ohshima, K.2
Pandolfo, M.3
-
27
-
-
3042713271
-
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich's ataxia patients and carriers
-
Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Ponticelli A et al. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich's ataxia patients and carriers. J Neurol Neurosurg Psychiatry 2004;75:1061-3.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1061-1063
-
-
Pianese, L.1
Turano, M.2
Lo Casale, M.S.3
De Biase, I.4
Giacchetti, M.5
Ponticelli, A.6
-
28
-
-
9844222853
-
Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S et al. Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
-
29
-
-
0036181208
-
Neuroprotective properties of epoetin alfa
-
Cerami A, Brines M, Grezzi P, Cerami C, Itri LM. Neuroprotective properties of epoetin alfa. Nephrol Dial Transplant 2002;17:8-12.
-
(2002)
Nephrol Dial Transplant
, vol.17
, pp. 8-12
-
-
Cerami, A.1
Brines, M.2
Grezzi, P.3
Cerami, C.4
Itri, L.M.5
-
30
-
-
3242733091
-
Age-related changes in erythropoietin immunoreactivity in the cerebral cortex and hippocampus of rats
-
Chung YH, KimSDI SI, Joo KM, Kim YS, Lee WB, Yun KW et al. Age-related changes in erythropoietin immunoreactivity in the cerebral cortex and hippocampus of rats. Brain Res 2004;1018:141-6.
-
(2004)
Brain Res
, vol.1018
, pp. 141-146
-
-
Chung, Y.H.1
Kimsdi, S.I.2
Joo, K.M.3
Kim, Y.S.4
Lee, W.B.5
Yun, K.W.6
-
31
-
-
4644318784
-
Erythropoietin and the hypoxic brain
-
Marti HH. Erythropoietin and the hypoxic brain. J Exp Biol 2004;207:3233-42.
-
(2004)
J Exp Biol
, vol.207
, pp. 3233-3242
-
-
Marti, H.H.1
-
32
-
-
0032516086
-
In vivo evidence that erythropoietin protects neurons from ischemic damage
-
Sakanaka M, Wen TC, Matsuda S, Masuda S, Morishita E, Nagao M et al. In vivo evidence that erythropoietin protects neurons from ischemic damage. Proc Natl Acad Sci USA 1998;95:4635-40.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 4635-4640
-
-
Sakanaka, M.1
Wen, T.C.2
Matsuda, S.3
Masuda, S.4
Morishita, E.5
Nagao, M.6
-
34
-
-
3042688444
-
Treatment of stroke with erythropoietin enhances neurogenesis and angiogenesis and improves neurological function in rats
-
Wang L, Zhang ZG, Wang Y, Zhang RL, Chopp M. Treatment of stroke with erythropoietin enhances neurogenesis and angiogenesis and improves neurological function in rats. Stroke 2004;35:1731-6.
-
(2004)
Stroke
, vol.35
, pp. 1731-1736
-
-
Wang, L.1
Zhang, Z.G.2
Wang, Y.3
Zhang, R.L.4
Chopp, M.5
-
36
-
-
0017031971
-
Pathology of the heart in Friedreich's ataxia: Review of the literature and report of one case
-
Sanchez-Casis G, Cote 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
Cote, M.2
Barbeau, A.3
-
37
-
-
0032971328
-
Increased iron in dendate nucleus of patients with Friedrich's ataxia
-
Waldvogel D, van Gelderen P, Hallet M. Increased iron in dendate nucleus of patients with Friedrich's ataxia. Ann Neurol 1999;46:123-5.
-
(1999)
Ann Neurol
, vol.46
, pp. 123-125
-
-
Waldvogel, D.1
Van Gelderen, P.2
Hallet, M.3
-
38
-
-
0036049401
-
Past, present and future of erythropoietin use in the elderly
-
de Francisco AL, Fernandez Fresnedo G, Rodrigo E, Pinera C, Heras M, Palomar R et al. Past, present and future of erythropoietin use in the elderly, Int Urol Nephrol 2002;33:187-93.
-
(2002)
Int Urol Nephrol
, vol.33
, pp. 187-193
-
-
De Francisco, A.L.1
Fernandez Fresnedo, G.2
Rodrigo, E.3
Pinera, C.4
Heras, M.5
Palomar, R.6
|