-
1
-
-
34447604868
-
Ueber degenerative atrophie der hinterstraenge
-
Friedreich N. Ueber degenerative Atrophie der Hinterstraenge. Virchows Arch Pathol Anat 1863;26:391-419
-
(1863)
Virchows Arch Pathol Anat
, vol.26
, pp. 391-419
-
-
Friedreich, N.1
-
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 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
-
3
-
-
0027250194
-
Late-onset Friedreich's ataxia: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T, Chamberlain S, Willner U, et al. Late-onset Friedreich's ataxia: molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993;50:803-806
-
(1993)
Arch Neurol
, vol.50
, pp. 803-806
-
-
Klockgether, T.1
Chamberlain, S.2
Willner, U.3
-
4
-
-
0028941326
-
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
Palau F, De Michele G, Vilchez JJ, et al. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995; 37:359-362
-
(1995)
Ann Neurol
, vol.37
, pp. 359-362
-
-
Palau, F.1
De Michele, G.2
Vilchez, J.J.3
-
5
-
-
0021721469
-
The neuropathology of "typical" Friedreich's ataxia in Quebec
-
Lamarche JB, Lemieux B, Lieu HB. The neuropathology of "typical" Friedreich's ataxia in Quebec. Can J Neurol Sci 1984; 11:592-600
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 592-600
-
-
Lamarche, J.B.1
Lemieux, B.2
Lieu, H.B.3
-
6
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988;334:248-250
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
-
7
-
-
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;271:1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
8
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-1712
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
-
9
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
10
-
-
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 1976;3:349-354
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 349-354
-
-
Sanchez-Casis, G.1
Cote, M.2
Barbeau, A.3
-
11
-
-
0030939011
-
International cooperative Ataxia rating scale for pharmacological assessment of the cerebellar syndrome. The Ataxia neuropharmacology committee of the world federation of neurology
-
Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-211
-
(1997)
J Neurol Sci
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
-
12
-
-
84961042345
-
The effect of age on the non-haemin iron in the human brain
-
Hallgren B, Sourander P. The effect of age on the non-haemin iron in the human brain. J Neurochem 1958;3:41-51
-
(1958)
J Neurochem
, vol.3
, pp. 41-51
-
-
Hallgren, B.1
Sourander, P.2
-
13
-
-
0029364588
-
The quantitative relation between T1-weighted and T2-weighted MRI of normal gray matter and iron concentration
-
Vymazal J, Hajek M, Patronas N, et al. The quantitative relation between T1-weighted and T2-weighted MRI of normal gray matter and iron concentration. J Magn Reson Imaging 1995;5:554-560
-
(1995)
J Magn Reson Imaging
, vol.5
, pp. 554-560
-
-
Vymazal, J.1
Hajek, M.2
Patronas, N.3
-
14
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
15
-
-
0032540929
-
Mt-Hsp70 homolog, Sc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis
-
Knight SA, Sepuri NB, Pain D, Dancis A. Mt-Hsp70 homolog, Sc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis. J Biol Chem 1998;273:18389-18393
-
(1998)
J Biol Chem
, vol.273
, pp. 18389-18393
-
-
Knight, S.A.1
Sepuri, N.B.2
Pain, D.3
Dancis, A.4
-
17
-
-
0023685030
-
Lipid peroxidation in mitochondria
-
Bindoli A. Lipid peroxidation in mitochondria. Free Radic Biol Med 1988;5:247-261
-
(1988)
Free Radic Biol Med
, vol.5
, pp. 247-261
-
-
Bindoli, A.1
-
18
-
-
0024996681
-
The oxidative inactivation of mitochondrial electron transport chain components and ATPase
-
Zhang Y, Marcillat O, Giulivi C, et al. The oxidative inactivation of mitochondrial electron transport chain components and ATPase. J Biol Chem 1990;265:16330-16336
-
(1990)
J Biol Chem
, vol.265
, pp. 16330-16336
-
-
Zhang, Y.1
Marcillat, O.2
Giulivi, C.3
-
20
-
-
0027717968
-
Bcl-2 inhibition of neural death: Decreased generation of reactive oxygen species
-
Kane DJ, Sarafian TA, Anton R, et al. Bcl-2 inhibition of neural death: decreased generation of reactive oxygen species. Science 1998;262:1274-1277
-
(1998)
Science
, vol.262
, pp. 1274-1277
-
-
Kane, D.J.1
Sarafian, T.A.2
Anton, R.3
|