-
1
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
DOI 10.1002/1531-8249(199902) 45:2<200::AID-ANA10>3.0.CO;2-U
-
Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999 ; 45: 200-206 (Pubitemid 29072366)
-
(1999)
Annals of Neurology
, vol.45
, Issue.2
, pp. 200-206
-
-
Cossee, M.1
Durr, A.2
Schmitt, M.3
Dahl, N.4
Trouillas, P.5
Allinson, P.6
Kostrzewa, M.7
Nivelon-Chevallier, A.8
Gustavson, K.-H.9
Kohlschutter, A.10
Muller, U.11
Mandel, J.-L.12
Brice, A.13
Koenig, M.14
Cavalcanti, F.15
Tammaro, A.16
De Michele, G.17
Filla, A.18
Cocozza, S.19
Labuda, M.20
Montermini, L.21
Poirier, J.22
Pandolfo, M.23
more..
-
2
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
DOI 10.1038/ng0897-345
-
Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997 ; 16: 345-351 (Pubitemid 27323298)
-
(1997)
Nature Genetics
, vol.16
, Issue.4
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
3
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
DOI 10.1126/science.276.5319.1709
-
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 (Pubitemid 27421980)
-
(1997)
Science
, vol.276
, Issue.5319
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
Pandolfo, M.7
Kaplan, J.8
-
4
-
-
0014446562
-
The heart in Friedreich's ataxia
-
Hewer R. The heart in Friedreich's ataxia. Br Heart J. 1969 ; 31: 5-14
-
(1969)
Br Heart J
, vol.31
, pp. 5-14
-
-
Hewer, R.1
-
5
-
-
0037235890
-
Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia
-
DOI 10.1002/ana.10419
-
Bunse M, Bit-Avragim N, Riefflin A, et al. Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. Ann Neurol. 2003 ; 53: 121-123 (Pubitemid 36083837)
-
(2003)
Annals of Neurology
, vol.53
, Issue.1
, pp. 121-123
-
-
Bunse, M.1
Bit-Avragim, N.2
Riefflin, A.3
Perrot, A.4
Schmidt, O.5
Kreuz, F.R.6
Dietz, R.7
Jung, W.-I.8
Josef Osterziel, K.9
-
6
-
-
0036098482
-
Friedreich ataxia: Effects of genetic understanding on clinical evaluation and therapy
-
Lynch DR, Farmer JM, Balcer LJ, Wilson RB. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol. 2002 ; 59: 743-747 (Pubitemid 34517755)
-
(2002)
Archives of Neurology
, vol.59
, Issue.5
, pp. 743-747
-
-
Lynch, D.R.1
Farmer, J.M.2
Balcer, L.J.3
Wilson, R.B.4
-
7
-
-
34447609375
-
Uber degenerative atrophie der spinalen Hinterstrange
-
Friedreich N. Uber degenerative atrophie der spinalen Hinterstrange. Virchows arch path Anat. 1863 ; 391-419: 433-459
-
(1863)
Virchows Arch Path Anat
, vol.391-419
, pp. 433-459
-
-
Friedreich, N.1
-
8
-
-
0017034866
-
Electrocardiographic and vectocardiographic findings in Friedreich's ataxia
-
Malo S, Latour Y, Cote M, et al. Electrocardiographic and vectocardiographic findings in Friedreich's ataxia. Can J Neurol Sci. 1976 ; 3: 323-328 (Pubitemid 8067185)
-
(1976)
Canadian Journal of Neurological Sciences
, vol.3
, Issue.4
, pp. 323-328
-
-
Malo, S.1
Latour, Y.2
Cote, M.3
-
11
-
-
84866358194
-
Friedreich's ataxia: Cardiac evaluation of 25 subjects with clinical diagnosis and literature review
-
Albano LM, Nishioka SA, Moyses RL, et al. Friedreich's ataxia: cardiac evaluation of 25 subjects with clinical diagnosis and literature review. Arq Bras Cardiol. 2002 ; 78: 444-451
-
(2002)
Arq Bras Cardiol
, vol.78
, pp. 444-451
-
-
Albano, L.M.1
Nishioka, S.A.2
Moyses, R.L.3
-
12
-
-
0021067564
-
The heart disease of Friedreich's ataxia: A clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases
-
Harding AE, Hewer RL. The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 subjects, with an analysis of serial electrocardiographic changes in 30 cases. QJM. 1983 ; 52: 489-502 (Pubitemid 14245585)
-
(1983)
Quarterly Journal of Medicine
, vol.52
, Issue.208
, pp. 489-502
-
-
Harding, A.E.1
Langton Hewer, R.2
-
13
-
-
0023689831
-
Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia
-
Giunta A, Maione S, Biagini R, et al. Noninvasive assessment of systolic and diastolic function in 50 subjects with Friedreich's ataxia. Cardiology. 1988 ; 75: 321-327 (Pubitemid 18269263)
-
(1988)
Cardiology
, vol.75
, Issue.5
, pp. 321-327
-
-
Giunta, A.1
Maione, S.2
Biagini, R.3
Filla, A.4
De Michele, G.5
Campanella, G.6
-
14
-
-
78650024574
-
Prevalence of interatrial block in subjects with Friedreich's ataxia
-
Panas M, Gialafos E, Spengos K, et al. Prevalence of interatrial block in subjects with Friedreich's ataxia. Int J Cardiol. 2010 ; 145: 386-387
-
(2010)
Int J Cardiol
, vol.145
, pp. 386-387
-
-
Panas, M.1
Gialafos, E.2
Spengos, K.3
-
15
-
-
64249142672
-
The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood
-
Kipps A, Alexander M, Colan SD, et al. The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood. Pediatr Cardiol. 2009 ; 30: 306-310
-
(2009)
Pediatr Cardiol
, vol.30
, pp. 306-310
-
-
Kipps, A.1
Alexander, M.2
Colan, S.D.3
-
16
-
-
84855972125
-
Analysis of echocardiograms in a large heterogeneous cohort of subjects with Friedreich ataxia
-
Regner SR, Lagedrost SJ, Plappert T, et al. Analysis of echocardiograms in a large heterogeneous cohort of subjects with Friedreich ataxia. Am J Cardiol. 2012 ; 109 (3). 401-405
-
(2012)
Am J Cardiol
, vol.109
, Issue.3
, pp. 401-405
-
-
Regner, S.R.1
Lagedrost, S.J.2
Plappert, T.3
-
17
-
-
17744391751
-
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia
-
DOI 10.1007/s001090000162
-
Bit-Avragim N, Perrot A, Schols L, et al. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in subjects with Friedreich's ataxia. J Mol Med (Berl). 2001 ; 78: 626-632 (Pubitemid 32202076)
-
(2000)
Journal of Molecular Medicine
, vol.78
, Issue.11
, pp. 626-632
-
-
Bit-Avragim, N.1
Perrot, A.2
Schols, L.3
Hardt, C.4
Kreuz, F.R.5
Zuhlke, C.6
Bubel, S.7
Laccone, F.8
Vogel, H.-P.9
Dietz, R.10
Osterziel, K.J.11
-
18
-
-
80053234592
-
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia
-
Kelly M, Bagnall RD, Peverill RE, et al. A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. J Mol Cell Cardiol. 2011 ; 51: 848-854
-
(2011)
J Mol Cell Cardiol
, vol.51
, pp. 848-854
-
-
Kelly, M.1
Bagnall, R.D.2
Peverill, R.E.3
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