-
1
-
-
0037700442
-
Friedreich's ataxia
-
10.1016/S0887-8994(03)00004-3
-
Alper G., and Narayanan V. Friedreich's ataxia Pediatric Neurology 28 5 2003 335 341 10.1016/S0887-8994(03)00004-3 12878293
-
(2003)
Pediatric Neurology
, vol.28
, Issue.5
, pp. 335-341
-
-
Alper, G.1
Narayanan, V.2
-
2
-
-
0030952974
-
MR evaluation of age-related increase of brain iron in young adult and older normal males
-
10.1016/S0730-725X(96)00234-2
-
Bartzokis G., Beckson M., Hance D.B., Marx P., Foster J.A., and Marder S.R. MR evaluation of age-related increase of brain iron in young adult and older normal males Magnetic Resonance Imaging 15 1 1997 29 35 10.1016/S0730-725X(96)00234-2 9084022
-
(1997)
Magnetic Resonance Imaging
, vol.15
, Issue.1
, pp. 29-35
-
-
Bartzokis, G.1
Beckson, M.2
Hance, D.B.3
Marx, P.4
Foster, J.A.5
Marder, S.R.6
-
3
-
-
84908219488
-
Statistical methods for assessing agreement between two methods of clinical measurement
-
Bland J.M., and Altman D.G. Statistical methods for assessing agreement between two methods of clinical measurement Lancet 1 8476 1986 307 310 2868172
-
(1986)
Lancet
, vol.1
, Issue.8476
, pp. 307-310
-
-
Bland, J.M.1
Altman, D.G.2
-
4
-
-
28944450552
-
Late-onset Friedreich ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature
-
10.1001/archneur.62.12.1865
-
Bhidayasiri R., Perlman S.L., Pulst S.-M., and Geschwind D.H. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature Archives of Neurology 62 12 2005 1865 1869 10.1001/archneur.62.12.1865 16344344
-
(2005)
Archives of Neurology
, vol.62
, Issue.12
, pp. 1865-1869
-
-
Bhidayasiri, R.1
Perlman, S.L.2
Pulst, S.-M.3
Geschwind, D.H.4
-
5
-
-
34347370842
-
Selective iron chelation in Friedreich ataxia: Biologic and clinical implications
-
10.1182/blood-2006-12-065433
-
Boddaert N., Le Quan Sang K.H., Rötig A., Leroy-Willig A., Gallet S., and Brunelle F. et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications Blood 110 1 2007 401 408 10.1182/blood-2006- 12-065433 17379741
-
(2007)
Blood
, vol.110
, Issue.1
, pp. 401-408
-
-
Boddaert, N.1
Le Quan Sang, K.H.2
Rötig, A.3
Leroy-Willig, A.4
Gallet, S.5
Brunelle, F.6
-
6
-
-
84903878388
-
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia
-
10.1111/ene.12448
-
Bonilha da Silva C., Bergo F.P., D'Abreu A., Cendes F., Lopes-Cendes I., and França M.C. Jr. Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies 21 2014 1131 1136 10.1111/ene.12448 24779923
-
(2014)
European Journal of Neurology: The Official Journal of the European Federation of Neurological Societies
, vol.21
, pp. 1131-1136
-
-
Bonilha Da Silva, C.1
Bergo, F.P.2
D'Abreu, A.3
Cendes, F.4
Lopes-Cendes, I.5
França Jr., M.C.6
-
7
-
-
0024533345
-
Does signal-attenuation on high-field T2-weighted MRI of the brain reflect regional cerebral iron deposition? Observations on the relationship between regional cerebral water proton T2 values and iron levels
-
10.1136/jnnp.52.1.108
-
Brooks D.J., Luthert P., Gadian D., and Marsden C.D. Does signal-attenuation on high-field T2-weighted MRI of the brain reflect regional cerebral iron deposition? Observations on the relationship between regional cerebral water proton T2 values and iron levels Journal of Neurology, Neurosurgery, and Psychiatry 52 1 1989 108 111 10.1136/jnnp.52.1.108 2709018
-
(1989)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.52
, Issue.1
, pp. 108-111
-
-
Brooks, D.J.1
Luthert, P.2
Gadian, D.3
Marsden, C.D.4
-
8
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
10.1126/science.271.5254.1423
-
Campuzano V., Montermini L., Moltò M.D., Pianese L., Cossée M., and Cavalcanti F. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science (New York, N.Y.) 271 5254 1996 1423 1427 10.1126/science.271.5254.1423 8596916
-
(1996)
Science (New York, N.Y.)
, vol.271
, Issue.5254
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
-
9
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
-
10.1093/hmg/11.3.217
-
Cavadini P., O'Neill H.A., Benada O., and Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia Human Molecular Genetics 11 3 2002 217 227 10.1093/hmg/11.3.217 11823441
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.3
, pp. 217-227
-
-
Cavadini, P.1
O'Neill, H.A.2
Benada, O.3
Isaya, G.4
-
10
-
-
0024325997
-
T2 values in the human brain: Comparison with quantitative assays of iron and ferritin
-
10.1148/radiology.173.2.2798884
-
Chen J.C., Hardy P.A., Clauberg M., Joshi J.G., Parravano J., and Deck J.H. et al. T2 values in the human brain: Comparison with quantitative assays of iron and ferritin Radiology 173 2 1989 521 526 10.1148/radiology.173.2.2798884 2798884
-
(1989)
Radiology
, vol.173
, Issue.2
, pp. 521-526
-
-
Chen, J.C.1
Hardy, P.A.2
Clauberg, M.3
Joshi, J.G.4
Parravano, J.5
Deck, J.H.6
-
11
-
-
34249762039
-
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes
-
De Michele G., Di Salle F., Filla A., D'Alessio G., Ambrosio G., and Viscardi L. et al. Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes Italian Journal of Neurological Sciences 16 5 1995 303 308 8537218
-
(1995)
Italian Journal of Neurological Sciences
, vol.16
, Issue.5
, pp. 303-308
-
-
De Michele, G.1
Di Salle, F.2
Filla, A.3
D'Alessio, G.4
Ambrosio, G.5
Viscardi, L.6
-
12
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
-
10.1136/jnnp.57.8.977
-
De Michele G., Filla A., Cavalcanti F., Di Maio L., Pianese L., and Castaldo I. et al. Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus Journal of Neurology, Neurosurgery, and Psychiatry 57 8 1994 977 979 10.1136/jnnp.57.8.977 8057123
-
(1994)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.57
, Issue.8
, pp. 977-979
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
Di Maio, L.4
Pianese, L.5
Castaldo, I.6
-
13
-
-
84868217296
-
Toward in vivo histology: A comparison of quantitative susceptibility mapping (QSM) with magnitude-, phase-, and R2*-imaging at ultra-high magnetic field strength
-
10.1016/j.neuroimage.2012.09.055
-
Deistung A., Schäfer A., Schweser F., Biedermann U., Turner R., and Reichenbach J.R. Toward in vivo histology: a comparison of quantitative susceptibility mapping (QSM) with magnitude-, phase-, and R2*-imaging at ultra-high magnetic field strength Neuroimage 65 2013 299 314 10.1016/j.neuroimage.2012.09.055 23036448
-
(2013)
Neuroimage
, vol.65
, pp. 299-314
-
-
Deistung, A.1
Schäfer, A.2
Schweser, F.3
Biedermann, U.4
Turner, R.5
Reichenbach, J.R.6
-
14
-
-
0032914608
-
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
-
10.1002/1531-8249(199905) 45:5<673::AID-ANA20>3.3.CO;2-H
-
Delatycki M.B., Camakaris J., Brooks H., Evans-Whipp T., Thorburn D.R., and Williamson R. et al. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia Annals of Neurology 45 5 1999 673 675 10.1002/1531-8249(199905)45:5<673::AID-ANA20>3.3.CO;2-H 10319894
-
(1999)
Annals of Neurology
, vol.45
, Issue.5
, pp. 673-675
-
-
Delatycki, M.B.1
Camakaris, J.2
Brooks, H.3
Evans-Whipp, T.4
Thorburn, D.R.5
Williamson, R.6
-
15
-
-
37749053225
-
Brain structural damage in Friedreich's ataxia
-
10.1136/jnnp.2007.124297
-
Della Nave R., Ginestroni A., Giannelli M., Tessa C., Salvatore E., and Salvi F. et al. Brain structural damage in Friedreich's ataxia Journal of Neurology, Neurosurgery, and Psychiatry 79 1 2008 82 85 10.1136/jnnp.2007.124297 17634216
-
(2008)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.79
, Issue.1
, pp. 82-85
-
-
Della Nave, R.1
Ginestroni, A.2
Giannelli, M.3
Tessa, C.4
Salvatore, E.5
Salvi, F.6
-
16
-
-
38949158408
-
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry
-
10.1016/j.neuroimage.2007.11.050
-
Della Nave R., Ginestroni A., Tessa C., Salvatore E., Bartolomei I., and Salvi F. et al. Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry Neuroimage 40 1 2008 19 25 10.1016/j.neuroimage.2007.11.050 18226551
-
(2008)
Neuroimage
, vol.40
, Issue.1
, pp. 19-25
-
-
Della Nave, R.1
Ginestroni, A.2
Tessa, C.3
Salvatore, E.4
Bartolomei, I.5
Salvi, F.6
-
17
-
-
78650206811
-
Imaging the deep cerebellar nuclei: A probabilistic atlas and normalization procedure
-
10.1016/j.neuroimage.2010.10.035
-
Diedrichsen J., Maderwald S., Küper M., Thürling M., Rabe K., and Gizewski E.R. et al. Imaging the deep cerebellar nuclei: a probabilistic atlas and normalization procedure Neuroimage 54 3 2011 1786 1794 10.1016/j.neuroimage.2010.10.035 20965257
-
(2011)
Neuroimage
, vol.54
, Issue.3
, pp. 1786-1794
-
-
Diedrichsen, J.1
Maderwald, S.2
Küper, M.3
Thürling, M.4
Rabe, K.5
Gizewski, E.R.6
-
18
-
-
43049102340
-
Correlation of cerebellar volume with eyeblink conditioning in healthy subjects and in patients with cerebellar cortical degeneration
-
A. Dimitrova, M. Gerwig, B. Brol, E.R. Gizewski, M. Forsting, and A. Beck et al. Correlation of cerebellar volume with eyeblink conditioning in healthy subjects and in patients with cerebellar cortical degeneration Brain Research 1198 2008 73 84
-
(2008)
Brain Research
, vol.1198
, pp. 73-84
-
-
Dimitrova, A.1
Gerwig, M.2
Brol, B.3
Gizewski, E.R.4
Forsting, M.5
Beck, A.6
-
19
-
-
0031009267
-
Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
-
10.1007/s004390050458
-
Epplen C., Epplen J.T., Frank G., Miterski B., Santos E.J., and Schöls L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene Human Genetics 99 6 1997 834 836 10.1007/s004390050458 9187683
-
(1997)
Human Genetics
, vol.99
, Issue.6
, pp. 834-836
-
-
Epplen, C.1
Epplen, J.T.2
Frank, G.3
Miterski, B.4
Santos, E.J.5
Schöls, L.6
-
20
-
-
67650441801
-
A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia
-
10.1007/s00415-009-5079-5
-
França M.C. Jr, D'Abreu A., Yasuda C.L., Bonadia L.C., Santos da Silva M., and Nucci A. et al. A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia Journal of Neurology 256 7 2009 1114 1120 10.1007/s00415-009-5079-5 19280106
-
(2009)
Journal of Neurology
, vol.256
, Issue.7
, pp. 1114-1120
-
-
França Jr., M.C.1
D'Abreu, A.2
Yasuda, C.L.3
Bonadia, L.C.4
Santos Da Silva, M.5
Nucci, A.6
-
21
-
-
31544445770
-
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity
-
10.1093/hmg/ddi461
-
Gakh O., Park S., Liu G., Macomber L., Imlay J.A., and Ferreira G.C. et al. Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity Human Molecular Genetics 15 3 2006 467 479 10.1093/hmg/ddi461 16371422
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.3
, pp. 467-479
-
-
Gakh, O.1
Park, S.2
Liu, G.3
Macomber, L.4
Imlay, J.A.5
Ferreira, G.C.6
-
22
-
-
0033013737
-
MR imaging of human brain at 3.0 T: Preliminary report on transverse relaxation rates and relation to estimated iron content
-
10.1148/radiology.210.3.r99fe41759
-
Gelman N., Gorell J.M., Barker P.B., Savage R.M., Spickler E.M., and Windham J.P. et al. MR imaging of human brain at 3.0 T: preliminary report on transverse relaxation rates and relation to estimated iron content Radiology 210 3 1999 759 767 10.1148/radiology.210.3.r99fe41759 10207479
-
(1999)
Radiology
, vol.210
, Issue.3
, pp. 759-767
-
-
Gelman, N.1
Gorell, J.M.2
Barker, P.B.3
Savage, R.M.4
Spickler, E.M.5
Windham, J.P.6
-
23
-
-
0028998624
-
Increased iron-related MRI contrast in the substantia nigra in Parkinson's disease
-
10.1212/WNL.45.6.1138
-
Gorell J.M., Ordidge R.J., Brown G.G., Deniau J.C., Buderer N.M., and Helpern J.A. Increased iron-related MRI contrast in the substantia nigra in Parkinson's disease Neurology 45 6 1995 1138 1143 10.1212/WNL.45.6.1138 7783878
-
(1995)
Neurology
, vol.45
, Issue.6
, pp. 1138-1143
-
-
Gorell, J.M.1
Ordidge, R.J.2
Brown, G.G.3
Deniau, J.C.4
Buderer, N.M.5
Helpern, J.A.6
-
24
-
-
0029313692
-
In vivo validation of the BOLD mechanism: A review of signal changes in gradient echo functional MRI in the presence of flow
-
10.1002/ima.1850060204
-
Haacke E.M., Lai S., Yablonskiy D.A., and Lin W. In vivo validation of the BOLD mechanism: a review of signal changes in gradient echo functional MRI in the presence of flow International Journal of Imaging Systems and Technology 6 1995 153 163 10.1002/ima.1850060204
-
(1995)
International Journal of Imaging Systems and Technology
, vol.6
, pp. 153-163
-
-
Haacke, E.M.1
Lai, S.2
Yablonskiy, D.A.3
Lin, W.4
-
25
-
-
84961042345
-
The effect of age on the non-haemin iron in the human brain
-
10.1111/j.1471-4159.1958.tb12607.x
-
Hallgren B., and Sourander P. The effect of age on the non-haemin iron in the human brain Journal of Neurochemistry 3 1 1958 41 51 10.1111/j.1471-4159. 1958.tb12607.x 13611557
-
(1958)
Journal of Neurochemistry
, vol.3
, Issue.1
, pp. 41-51
-
-
Hallgren, B.1
Sourander, P.2
-
26
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding A.E. Clinical features and classification of inherited ataxias Advances in Neurology 61 1993 1 14 8421960
-
(1993)
Advances in Neurology
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
27
-
-
70349504414
-
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant
-
10.1073/pnas.0906784106
-
Huang M.L.-H., Becker E.M., Whitnall M., Suryo Rahmanto Y., Ponka P., and Richardson D.R. Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant Proceedings of the National Academy of Sciences of the United States of America 106 38 2009 16381 16386 10.1073/pnas.0906784106 19805308
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.38
, pp. 16381-16386
-
-
Huang, M.L.-H.1
Becker, E.M.2
Whitnall, M.3
Suryo Rahmanto, Y.4
Ponka, P.5
Richardson, D.R.6
-
28
-
-
0027619154
-
MRI and CT features of cerebellar degeneration
-
Huang Y.P., Tuason M.Y., Wu T., and Plaitakis A. MRI and CT features of cerebellar degeneration Journal of the Formosan Medical Association = Taiwan Yi Zhi 92 6 1993 494 508 8106035
-
(1993)
Journal of the Formosan Medical Association = Taiwan Yi Zhi
, vol.92
, Issue.6
, pp. 494-508
-
-
Huang, Y.P.1
Tuason, M.Y.2
Wu, T.3
Plaitakis, A.4
-
29
-
-
79952814526
-
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
-
10.1016/j.jns.2011.01.010
-
Koeppen A.H. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics Journal of the Neurological Sciences 303 1-2 2011 1 12 10.1016/j.jns.2011.01.010 21315377
-
(2011)
Journal of the Neurological Sciences
, vol.303
, Issue.12
, pp. 1-12
-
-
Koeppen, A.H.1
-
31
-
-
34547119562
-
The dentate nucleus in Friedreich's ataxia: The role of iron-responsive proteins
-
10.1007/s00401-007-0220-y
-
Koeppen A.H., Michael S.C., Knutson M.D., Haile D.J., Qian J., and Levi S. et al. The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins Acta Neuropathologica 114 2 2007 163 173 10.1007/s00401-007-0220-y 17443334
-
(2007)
Acta Neuropathologica
, vol.114
, Issue.2
, pp. 163-173
-
-
Koeppen, A.H.1
Michael, S.C.2
Knutson, M.D.3
Haile, D.J.4
Qian, J.5
Levi, S.6
-
32
-
-
71449093193
-
The dorsal root ganglion in Friedreich's ataxia
-
10.1007/s00401-009-0589-x
-
Koeppen A.H., Morral J.A., Davis A.N., Qian J., Petrocine S.V., and Knutson M.D. et al. The dorsal root ganglion in Friedreich's ataxia Acta Neuropathologica 118 6 2009 763 776 10.1007/s00401-009-0589-x 19727777
-
(2009)
Acta Neuropathologica
, vol.118
, Issue.6
, pp. 763-776
-
-
Koeppen, A.H.1
Morral, J.A.2
Davis, A.N.3
Qian, J.4
Petrocine, S.V.5
Knutson, M.D.6
-
33
-
-
84870447778
-
Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus
-
10.1007/s12311-012-0383-5
-
Koeppen A.H., Ramirez R.L., Yu D., Collins S.E., Qian J., and Parsons P.J. et al. Friedreich's ataxia causes redistribution of iron, copper, and zinc in the dentate nucleus Cerebellum (London, England) 11 4 2012 845 860 10.1007/s12311-012-0383-5 22562713
-
(2012)
Cerebellum (London, England)
, vol.11
, Issue.4
, pp. 845-860
-
-
Koeppen, A.H.1
Ramirez, R.L.2
Yu, D.3
Collins, S.E.4
Qian, J.5
Parsons, P.J.6
-
34
-
-
84864647755
-
Structural and functional magnetic resonance imaging of the human cerebellar nuclei
-
10.1007/s12311-010-0194-5
-
Küper M., Thürling M., Maderwald S., Ladd M.E., and Timmann D. Structural and functional magnetic resonance imaging of the human cerebellar nuclei Cerebellum (London, England) 11 2 2012 314 324 10.1007/s12311-010-0194-5 20665253
-
(2012)
Cerebellum (London, England)
, vol.11
, Issue.2
, pp. 314-324
-
-
Küper, M.1
Thürling, M.2
Maderwald, S.3
Ladd, M.E.4
Timmann, D.5
-
36
-
-
47249127786
-
Iron-dependent regulation of frataxin expression: Implications for treatment of Friedreich ataxia
-
10.1093/hmg/ddn127
-
Li K., Besse E.K., Ha D., Kovtunovych G., and Rouault T.A. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia Human Molecular Genetics 17 15 2008 2265 2273 10.1093/hmg/ddn127 18424449
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.15
, pp. 2265-2273
-
-
Li, K.1
Besse, E.K.2
Ha, D.3
Kovtunovych, G.4
Rouault, T.A.5
-
37
-
-
3042526311
-
Age-related changes of the dentate nuclei in normal adults as revealed by 3D fast low angle shot (FLASH) echo sequence magnetic resonance imaging
-
10.1007/s00415-004-0420-5
-
Maschke M., Weber J., Dimitrova A., Bonnet U., Bohrenkämper J., and Sturm S. et al. Age-related changes of the dentate nuclei in normal adults as revealed by 3D fast low angle shot (FLASH) echo sequence magnetic resonance imaging Journal of Neurology 251 6 2004 740 746 10.1007/s00415-004-0420-5 15311352
-
(2004)
Journal of Neurology
, vol.251
, Issue.6
, pp. 740-746
-
-
Maschke, M.1
Weber, J.2
Dimitrova, A.3
Bonnet, U.4
Bohrenkämper, J.5
Sturm, S.6
-
38
-
-
33845337036
-
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia
-
10.1080/14734220600913246
-
Michael S., Petrocine S.V., Qian J., Lamarche J.B., Knutson M.D., and Garrick M.D. et al. Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia Cerebellum (London, England) 5 4 2006 257 267 10.1080/14734220600913246 17134988
-
(2006)
Cerebellum (London, England)
, vol.5
, Issue.4
, pp. 257-267
-
-
Michael, S.1
Petrocine, S.V.2
Qian, J.3
Lamarche, J.B.4
Knutson, M.D.5
Garrick, M.D.6
-
39
-
-
0028142827
-
Assessment of relative brain iron concentrations using T2-weighted and T2*-weighted MRI at 3 Tesla
-
10.1002/mrm.1910320309
-
Ordidge R.J., Gorell J.M., Deniau J.C., Knight R.A., and Helpern J.A. Assessment of relative brain iron concentrations using T2-weighted and T2*-weighted MRI at 3 Tesla Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 32 3 1994 335 341 10.1002/mrm.1910320309 7984066
-
(1994)
Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine
, vol.32
, Issue.3
, pp. 335-341
-
-
Ordidge, R.J.1
Gorell, J.M.2
Deniau, J.C.3
Knight, R.A.4
Helpern, J.A.5
-
40
-
-
0028107132
-
Magnetic resonance imaging in degenerative ataxic disorders
-
10.1136/jnnp.57.1.51
-
Ormerod I.E., Harding A.E., Miller D.H., Johnson G., MacManus D., and du Boulay E.P. et al. Magnetic resonance imaging in degenerative ataxic disorders Journal of Neurology, Neurosurgery, and Psychiatry 57 1 1994 51 57 10.1136/jnnp.57.1.51 8301305
-
(1994)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.57
, Issue.1
, pp. 51-57
-
-
Ormerod, I.E.1
Harding, A.E.2
Miller, D.H.3
Johnson, G.4
Macmanus, D.5
Du Boulay, E.P.6
-
41
-
-
77952719953
-
Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia
-
10.1148/radiol.10091742
-
Pagani E., Ginestroni A., Della Nave R., Agosta F., Salvi F., and De Michele G. et al. Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia Radiology 255 3 2010 882 889 10.1148/radiol.10091742 20501725
-
(2010)
Radiology
, vol.255
, Issue.3
, pp. 882-889
-
-
Pagani, E.1
Ginestroni, A.2
Della Nave, R.3
Agosta, F.4
Salvi, F.5
De Michele, G.6
-
42
-
-
0242439636
-
Friedreich ataxia
-
10.1016/S1071-9091(03)00025-1
-
Pandolfo M. Friedreich ataxia Seminars in Pediatric Neurology 10 3 2003 163 172 10.1016/S1071-9091(03)00025-1 14653404
-
(2003)
Seminars in Pediatric Neurology
, vol.10
, Issue.3
, pp. 163-172
-
-
Pandolfo, M.1
-
43
-
-
62549117369
-
Friedreich ataxia: The clinical picture
-
10.1007/s00415-009-1002-3
-
Pandolfo M. Friedreich ataxia: the clinical picture Journal of Neurology 256 Suppl. 1 2009 3 8 10.1007/s00415-009-1002-3 19283344
-
(2009)
Journal of Neurology
, vol.256
, Issue.SUPPL. 1
, pp. 3-8
-
-
Pandolfo, M.1
-
44
-
-
84880345042
-
Co-enzyme Q10 and idebenone use in Friedreich's ataxia
-
10.1111/jnc.12322
-
Parkinson M.H., Schulz J.B., and Giunti P. Co-enzyme Q10 and idebenone use in Friedreich's ataxia Journal of Neurochemistry 126 Suppl. 1 2013 125 141 10.1111/jnc.12322 23859348
-
(2013)
Journal of Neurochemistry
, vol.126
, Issue.SUPPL. 1
, pp. 125-141
-
-
Parkinson, M.H.1
Schulz, J.B.2
Giunti, P.3
-
45
-
-
65949096079
-
Adaptation to visuomotor rotation and force field perturbation is correlated to different brain areas in patients with cerebellar degeneration
-
10.1152/jn.91069.2008
-
Rabe K., Livne O., Gizewski E.R., Aurich V., Beck A., and Timmann D. et al. Adaptation to visuomotor rotation and force field perturbation is correlated to different brain areas in patients with cerebellar degeneration Journal of Neurophysiology 101 4 2009 1961 1971 10.1152/jn.91069.2008 19176608
-
(2009)
Journal of Neurophysiology
, vol.101
, Issue.4
, pp. 1961-1971
-
-
Rabe, K.1
Livne, O.2
Gizewski, E.R.3
Aurich, V.4
Beck, A.5
Timmann, D.6
-
46
-
-
84870296232
-
Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia
-
10.1016/j.amjcard.2012.08.018
-
Ramirez R.L., Qian J., Santambrogio P., Levi S., and Koeppen A.H. Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia American Journal of Cardiology 110 12 2012 1820 1827 10.1016/j.amjcard.2012.08. 018 23000103
-
(2012)
American Journal of Cardiology
, vol.110
, Issue.12
, pp. 1820-1827
-
-
Ramirez, R.L.1
Qian, J.2
Santambrogio, P.3
Levi, S.4
Koeppen, A.H.5
-
47
-
-
34347384200
-
Improving lesion-symptom mapping
-
10.1162/jocn.2007.19.7.1081
-
Rorden C., Karnath H.-O., and Bonilha L. Improving lesion-symptom mapping Journal of Cognitive Neuroscience 19 7 2007 1081 1088 10.1162/jocn.2007.19.7. 1081 17583985
-
(2007)
Journal of Cognitive Neuroscience
, vol.19
, Issue.7
, pp. 1081-1088
-
-
Rorden, C.1
Karnath, H.-O.2
Bonilha, L.3
-
48
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
10.1038/ng1097-215
-
Rötig A., de Lonlay P., Chretien D., Foury F., Koenig M., and Sidi D. et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia Nature Genetics 17 2 1997 215 217 10.1038/ng1097-215 9326946
-
(1997)
Nature Genetics
, vol.17
, Issue.2
, pp. 215-217
-
-
Rötig, A.1
De Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
-
49
-
-
84858015433
-
Biogenesis of iron-sulfur clusters in mammalian cells: New insights and relevance to human disease
-
10.1242/dmm.009019
-
Rouault T.A. Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease Disease Models & Mechanisms 5 2 2012 155 164 10.1242/dmm.009019 22382365
-
(2012)
Disease Models & Mechanisms
, vol.5
, Issue.2
, pp. 155-164
-
-
Rouault, T.A.1
-
50
-
-
0029434336
-
Imaging of brain iron by magnetic resonance: T2 relaxation at different field strengths
-
10.1016/0022-510X(95)00203-E
-
Schenck J.F. Imaging of brain iron by magnetic resonance: T2 relaxation at different field strengths Journal of the Neurological Sciences 134 Suppl. 1995 10 18 10.1016/0022-510X(95)00203-E 8847539
-
(1995)
Journal of the Neurological Sciences
, vol.134
, Issue.SUPPL.
, pp. 10-18
-
-
Schenck, J.F.1
-
51
-
-
12244310498
-
Magnetic resonance imaging of brain iron
-
10.1016/S0022-510X(02)00431-8
-
Schenck J.F. Magnetic resonance imaging of brain iron Journal of the Neurological Sciences 207 1-2 2003 99 102 10.1016/S0022-510X(02)00431-8 12614939
-
(2003)
Journal of the Neurological Sciences
, vol.207
, Issue.12
, pp. 99-102
-
-
Schenck, J.F.1
-
52
-
-
9244231109
-
High-field magnetic resonance imaging of brain iron: Birth of a biomarker?
-
10.1002/nbm.922
-
Schenck J.F., and Zimmerman E.A. High-field magnetic resonance imaging of brain iron: birth of a biomarker? NMR in Biomedicine 17 7 2004 433 445 10.1002/nbm.922 15523705
-
(2004)
NMR in Biomedicine
, vol.17
, Issue.7
, pp. 433-445
-
-
Schenck, J.F.1
Zimmerman, E.A.2
-
54
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
10.1212/01.wnl.0000219042.60538.92
-
Schmitz-Hübsch T., du Montcel S.T., Baliko L., Berciano J., Boesch S., and Depondt C. et al. Scale for the assessment and rating of ataxia: development of a new clinical scale Neurology 66 11 2006 1717 1720 10.1212/01.wnl.0000219042.60538.92 16769946
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1717-1720
-
-
Schmitz-Hübsch, T.1
Du Montcel, S.T.2
Baliko, L.3
Berciano, J.4
Boesch, S.5
Depondt, C.6
-
55
-
-
1842370633
-
Friedreich's ataxia. Revision of the phenotype according to molecular genetics
-
10.1093/brain/120.12.2131
-
Schols L., Amoiridis G., Przuntek H., Frank G., Epplen J.T., and Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics Brain 120 12 1997 2131 2140 10.1093/brain/120.12.2131
-
(1997)
Brain
, vol.120
, Issue.12
, pp. 2131-2140
-
-
Schols, L.1
Amoiridis, G.2
Przuntek, H.3
Frank, G.4
Epplen, J.T.5
Epplen, C.6
-
56
-
-
84876975929
-
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia
-
10.1016/j.gene.2013.02.049
-
Soriano S., Llorens J.V., Blanco-Sobero L., Gutiérrez L., Calap-Quintana P., and Morales M.P. et al. Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia Gene 521 2 2013 274 281 10.1016/j.gene.2013.02.049 23542074
-
(2013)
Gene
, vol.521
, Issue.2
, pp. 274-281
-
-
Soriano, S.1
Llorens, J.V.2
Blanco-Sobero, L.3
Gutiérrez, L.4
Calap-Quintana, P.5
Morales, M.P.6
-
57
-
-
16844371342
-
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
-
10.1212/01.WNL.0000156802.15466.79
-
Subramony S.H., May W., Lynch D., Gomez C., Fischbeck K., and Hallett M. et al. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale Neurology 64 7 2005 1261 1262 10.1212/01.WNL.0000156802.15466.79 15824358
-
(2005)
Neurology
, vol.64
, Issue.7
, pp. 1261-1262
-
-
Subramony, S.H.1
May, W.2
Lynch, D.3
Gomez, C.4
Fischbeck, K.5
Hallett, M.6
-
58
-
-
85027948283
-
Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich's ataxia
-
10.1159/000327751
-
Synofzik M., Godau J., Lindig T., Schöls L., and Berg D. Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich's ataxia Neuro-Degenerative Diseases 8 6 2011 470 475 10.1159/000327751 21659723
-
(2011)
Neuro-Degenerative Diseases
, vol.8
, Issue.6
, pp. 470-475
-
-
Synofzik, M.1
Godau, J.2
Lindig, T.3
Schöls, L.4
Berg, D.5
-
59
-
-
2642712600
-
Suprasegmental lesions in Friedreich's ataxia
-
10.1159/000105212
-
Urich H., Norman R.M., and Lloyd O.C. Suprasegmental lesions in Friedreich's ataxia Confinia Neurologica 17 6 1957 360 371 10.1159/000105212 13511951
-
(1957)
Confinia Neurologica
, vol.17
, Issue.6
, pp. 360-371
-
-
Urich, H.1
Norman, R.M.2
Lloyd, O.C.3
-
60
-
-
79952694447
-
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia
-
10.1007/s12311-010-0212-7
-
Velasco-Sánchez D., Aracil A., Montero R., Mas A., Jiménez L., and O'Callaghan M. et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia Cerebellum (London, England) 10 1 2011 1 8 10.1007/s12311-010-0212-7 20865357
-
(2011)
Cerebellum (London, England)
, vol.10
, Issue.1
, pp. 1-8
-
-
Velasco-Sánchez, D.1
Aracil, A.2
Montero, R.3
Mas, A.4
Jiménez, L.5
O'Callaghan, M.6
-
61
-
-
0030022886
-
The relation between brain iron and NMR relaxation times: An in vitro study
-
10.1002/mrm.1910350108
-
Vymazal J., Brooks R.A., Baumgarner C., Tran V., Katz D., and Bulte J.W. et al. The relation between brain iron and NMR relaxation times: an in vitro study Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 35 1 1996 56 61 10.1002/mrm.1910350108 8771022
-
(1996)
Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine
, vol.35
, Issue.1
, pp. 56-61
-
-
Vymazal, J.1
Brooks, R.A.2
Baumgarner, C.3
Tran, V.4
Katz, D.5
Bulte, J.W.6
-
62
-
-
0032971328
-
Increased iron in the dentate nucleus of patients with Friedrich's ataxia
-
10.1002/1531-8249(199907) 46:1<123::AID-ANA19>3.0.CO;2-H
-
Waldvogel D., van Gelderen P., and Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia Annals of Neurology 46 1 1999 123 125 10.1002/1531-8249(199907)46:1<123::AID-ANA19>3.0.CO;2-H 10401790
-
(1999)
Annals of Neurology
, vol.46
, Issue.1
, pp. 123-125
-
-
Waldvogel, D.1
Van Gelderen, P.2
Hallett, M.3
-
63
-
-
84872108836
-
Evaluation of a new approach for semi-automatic segmentation of the cerebellum in patients with multiple sclerosis
-
10.1007/s00415-012-6569-4
-
Weier K., Beck A., Magon S., Amann M., Naegelin Y., and Penner I.K. et al. Evaluation of a new approach for semi-automatic segmentation of the cerebellum in patients with multiple sclerosis Journal of Neurology 259 12 2012 2673 2680 10.1007/s00415-012-6569-4 22711160
-
(2012)
Journal of Neurology
, vol.259
, Issue.12
, pp. 2673-2680
-
-
Weier, K.1
Beck, A.2
Magon, S.3
Amann, M.4
Naegelin, Y.5
Penner, I.K.6
-
64
-
-
84865656757
-
Therapeutic developments in Friedreich ataxia
-
10.1177/0883073812449691
-
Wilson R.B. Therapeutic developments in Friedreich ataxia Journal of Child Neurology 27 9 2012 1212 1216 10.1177/0883073812449691 22791549
-
(2012)
Journal of Child Neurology
, vol.27
, Issue.9
, pp. 1212-1216
-
-
Wilson, R.B.1
-
65
-
-
0027405101
-
Magnetic resonance imaging in hereditary and idiopathic ataxia
-
10.1212/WNL.43.2.318
-
Wüllner U., Klockgether T., Petersen D., Naegele T., and Dichgans J. Magnetic resonance imaging in hereditary and idiopathic ataxia Neurology 43 2 1993 318 325 10.1212/WNL.43.2.318 8437696
-
(1993)
Neurology
, vol.43
, Issue.2
, pp. 318-325
-
-
Wüllner, U.1
Klockgether, T.2
Petersen, D.3
Naegele, T.4
Dichgans, J.5
|