-
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
-
-
0030296878
-
Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction
-
Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 1996;19:465-8.
-
(1996)
Trends Neurosci
, vol.19
, pp. 465-468
-
-
Gibson, T.J.1
Koonin, E.V.2
Musco, G.3
Pastore, A.4
Bork, P.5
-
3
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16:345-51.
-
(1997)
Nat Genet
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
4
-
-
0030791598
-
Frataxin gene of Friedreich's ataxia is targeted to mitochondria
-
Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol 1997;42:265-9.
-
(1997)
Ann Neurol
, vol.42
, pp. 265-269
-
-
Priller, J.1
Scherzer, C.R.2
Faber, P.W.3
MacDonald, M.E.4
Young, A.B.5
-
5
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini 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
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
-
6
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 2000;9:275-82.
-
(2000)
Hum Mol Genet
, 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.6
-
7
-
-
0034778392
-
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
-
Chantrel-Groussard K, Geromel V, Puccio H, Koenig M, Munnich A, Rotig A. Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum Mol Genet 2001;10:2061-7.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2061-2067
-
-
Chantrel-Groussard, K.1
Geromel, V.2
Puccio, H.3
Koenig, M.4
Munnich, A.5
Rotig, A.6
-
8
-
-
0035020940
-
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
-
Lodi R, Hart PE, Rajagopalan B, Taylor DJ, Crilley JG, Bradley JL. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 2001;49:590-6.
-
(2001)
Ann Neurol
, vol.49
, pp. 590-596
-
-
Lodi, R.1
Hart, P.E.2
Rajagopalan, B.3
Taylor, D.J.4
Crilley, J.G.5
Bradley, J.L.6
-
9
-
-
0037126057
-
Inhibition of Fe-S cluster biosynthesis decreases mitochondrial iron export: Evidence that Yfh1p affects Fe-S cluster synthesis
-
Chen OS, Hemenway S, Kaplan J. Inhibition of Fe-S cluster biosynthesis decreases mitochondrial iron export: evidence that Yfh1p affects Fe-S cluster synthesis. Proc Natl Acad Sci U S A 2002;99:12321-6.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 12321-12326
-
-
Chen, O.S.1
Hemenway, S.2
Kaplan, J.3
-
10
-
-
0037101845
-
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins
-
Muhlenhoff U, Richhardt N, Ristow M, Kispal G, Lill R. The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet 2002;11:2025-36.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2025-2036
-
-
Muhlenhoff, U.1
Richhardt, N.2
Ristow, M.3
Kispal, G.4
Lill, R.5
-
11
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002;87:346-9.
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.O.1
Aggoun, Y.2
Bonnet, D.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
12
-
-
0036554660
-
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia
-
Rustin P, Rotig A, Munnich A, Sidi D. Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia. Free Radic Res 2002;36:467-9.
-
(2002)
Free Radic Res
, vol.36
, pp. 467-469
-
-
Rustin, P.1
Rotig, A.2
Munnich, A.3
Sidi, D.4
-
13
-
-
0038187688
-
Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring
-
Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 2003;60:1679-81.
-
(2003)
Neurology
, vol.60
, pp. 1679-1681
-
-
Buyse, G.1
Mertens, L.2
Di Salvo, G.3
Matthijs, I.4
Weidemann, F.5
Eyskens, B.6
-
14
-
-
0037849955
-
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
-
Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003;60:1676-9.
-
(2003)
Neurology
, vol.60
, pp. 1676-1679
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
Marano, L.4
Fiorentini, C.5
Di Donato, S.6
-
15
-
-
1542287925
-
Role of oxidative damage in Friedreich's ataxia
-
Bradley JL, Homayoun S, Hart PE, Schapira AH, Cooper JM. Role of oxidative damage in Friedreich's ataxia. Neurochem Res 2004;29:561-7.
-
(2004)
Neurochem Res
, vol.29
, pp. 561-567
-
-
Bradley, J.L.1
Homayoun, S.2
Hart, P.E.3
Schapira, A.H.4
Cooper, J.M.5
-
16
-
-
0034642214
-
Increased levels of plasma malondialdehyde in Friedreich's ataxia
-
Emond M, Lepage G, Vanasse M, Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich's ataxia. Neurology 2000;55:1752-3.
-
(2000)
Neurology
, vol.55
, pp. 1752-1753
-
-
Emond, M.1
Lepage, G.2
Vanasse, M.3
Pandolfo, M.4
-
17
-
-
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, Currier RD, Subramony SH, Wessel K. 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;145:205-11.
-
(1997)
J Neurol Sci
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
Currier, R.D.4
Subramony, S.H.5
Wessel, K.6
-
19
-
-
0005630907
-
Friedreich's ataxia
-
Vinken PJ, Bruyn GW, Klawans HL, editors. Amsterdam: Elsevier Science Publisher
-
Manyam BV. Friedreich's ataxia. In: Vinken PJ, Bruyn GW, Klawans HL, editors. Handbook of Clinical Neurology. Vol. 16 (60). Amsterdam: Elsevier Science Publisher; 1991. p. 299-333.
-
(1991)
Handbook of Clinical Neurology
, vol.16
, Issue.60
, pp. 299-333
-
-
Manyam, B.V.1
-
20
-
-
17144467700
-
Phenotypic variability in Friedreich's ataxia: Role of the associated GAA triplet repeat expansion
-
Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B. Phenotypic variability in Friedreich's ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82.
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
Justice, C.M.4
Julien, D.5
Castellotti, B.6
-
21
-
-
1842370633
-
Friedreich's ataxia. Revision of the phenotype according to molecular genetics
-
Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997;120:2131-40.
-
(1997)
Brain
, vol.120
, pp. 2131-2140
-
-
Schols, L.1
Amoiridis, G.2
Przuntek, H.3
Frank, G.4
Epplen, J.T.5
Epplen, C.6
-
22
-
-
1942501782
-
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype
-
Giacchetti M, Monticelli A, De Biase I, Pianese L, Turano M, Filla A. Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype. J Med Genet 2004;41:293-5.
-
(2004)
J Med Genet
, vol.41
, pp. 293-295
-
-
Giacchetti, M.1
Monticelli, A.2
De Biase, I.3
Pianese, L.4
Turano, M.5
Filla, A.6
-
24
-
-
0018933647
-
Auditory dysfunction in Friedreich's ataxia: Result of spiral ganglion degeneration
-
Satya-Murti S, Cacace A, Hanson P. Auditory dysfunction in Friedreich's ataxia: result of spiral ganglion degeneration. Neurology 1980;30:1047-53.
-
(1980)
Neurology
, vol.30
, pp. 1047-1053
-
-
Satya-Murti, S.1
Cacace, A.2
Hanson, P.3
-
25
-
-
0033976931
-
The spectrum of hearing loss due to mitochondrial DNA defects
-
Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM. The spectrum of hearing loss due to mitochondrial DNA defects. Brain 2000;123:82-92.
-
(2000)
Brain
, vol.123
, pp. 82-92
-
-
Chinnery, P.F.1
Elliott, C.2
Green, G.R.3
Rees, A.4
Coulthard, A.5
Turnbull, D.M.6
-
26
-
-
0020518546
-
Early abnormalities of brainstem auditory evoked potentials in Friedreich's ataxia: Evidence of primary brainstem dysfunction
-
Jabbari B, Schwartz DM, MacNeil DM, Coker SB. Early abnormalities of brainstem auditory evoked potentials in Friedreich's ataxia: evidence of primary brainstem dysfunction. Neurology 1983;33:1071-4.
-
(1983)
Neurology
, vol.33
, pp. 1071-1074
-
-
Jabbari, B.1
Schwartz, D.M.2
MacNeil, D.M.3
Coker, S.B.4
-
27
-
-
0024343654
-
Morphofunctional features of human extrinsic ocular muscles
-
Montagnani S, De Rosa P. Morphofunctional features of human extrinsic ocular muscles. Doc Ophthalmol 1989;72:119-28.
-
(1989)
Doc Ophthalmol
, vol.72
, pp. 119-128
-
-
Montagnani, S.1
De Rosa, P.2
-
28
-
-
0343953522
-
Mitochondrial impairment of human muscle in Friedreich's ataxia in vivo
-
Vorgerd M, Schols L, Hardt C, Ristow M, Epplen JT, Zange J. Mitochondrial impairment of human muscle in Friedreich's ataxia in vivo. Neuromuscul Disord 2000;10:430-5.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 430-435
-
-
Vorgerd, M.1
Schols, L.2
Hardt, C.3
Ristow, M.4
Epplen, J.T.5
Zange, J.6
-
29
-
-
0029915788
-
Mitochondrial disorders in degenerative ataxias
-
Schols L, Reichmann H, Amoiridis G, Seibel P, Wagener S, Seufert S, et al. Mitochondrial disorders in degenerative ataxias. Eur J Neurol 1996;3:56-60.
-
(1996)
Eur J Neurol
, vol.3
, pp. 56-60
-
-
Schols, L.1
Reichmann, H.2
Amoiridis, G.3
Seibel, P.4
Wagener, S.5
Seufert, S.6
-
30
-
-
0026609581
-
Preservation of the masseter reflex in Friedreich's ataxia
-
Auger RG. Preservation of the masseter reflex in Friedreich's ataxia. Neurology 1992;42:875-8.
-
(1992)
Neurology
, vol.42
, pp. 875-878
-
-
Auger, R.G.1
-
31
-
-
0000701926
-
The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria
-
Esposti MD, Ngo A, Ghelli A, Benelli B, Carelli V, McLennan H. The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria. Arch Biochem Biophys 1996;330:395-400.
-
(1996)
Arch Biochem Biophys
, vol.330
, pp. 395-400
-
-
Esposti, M.D.1
Ngo, A.2
Ghelli, A.3
Benelli, B.4
Carelli, V.5
McLennan, H.6
-
32
-
-
0035929367
-
The site of production of superoxide radical in mitochondrial Complex I is not a bound ubisemiquinone but presumably iron-sulfur cluster N2
-
Genova ML, Ventura B, Giuliano G, Bovina C, Formiggini G, Parenti Castelli G, et al. The site of production of superoxide radical in mitochondrial Complex I is not a bound ubisemiquinone but presumably iron-sulfur cluster N2. FEBS Lett 2001;505:364-8.
-
(2001)
FEBS Lett
, vol.505
, pp. 364-368
-
-
Genova, M.L.1
Ventura, B.2
Giuliano, G.3
Bovina, C.4
Formiggini, G.5
Parenti Castelli, G.6
-
33
-
-
14044273058
-
Friedreich's ataxia: The oxidative stress paradox
-
Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P. Friedreich's ataxia: the oxidative stress paradox. Hum Mol Genet 2005;14:463-74.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 463-474
-
-
Seznec, H.1
Simon, D.2
Bouton, C.3
Reutenauer, L.4
Hertzog, A.5
Golik, P.6
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