-
1
-
-
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, Monros E, Rodius F, Duclos F, Monticelli A, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science New York, NY 1996, 271(5254):1423-1427.
-
(1996)
Science New York, NY
, vol.271
, Issue.5254
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
2
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
10.1038/ng1097-215, 9326946
-
Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997, 17(2):215-217. 10.1038/ng1097-215, 9326946.
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 215-217
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
3
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
10.1038/ng0897-345, 9241270
-
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. Nature genetics 1997, 16(4):345-351. 10.1038/ng0897-345, 9241270.
-
(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
-
4
-
-
0034642203
-
Oxidative stress in patients with Friedreich ataxia
-
Schulz JB, Dehmer T, Schols L, Mende H, Hardt C, Vorgerd M, Burk K, Matson W, Dichgans J, Beal MF, et al. Oxidative stress in patients with Friedreich ataxia. Neurology 2000, 55(11):1719-1721.
-
(2000)
Neurology
, vol.55
, Issue.11
, pp. 1719-1721
-
-
Schulz, J.B.1
Dehmer, T.2
Schols, L.3
Mende, H.4
Hardt, C.5
Vorgerd, M.6
Burk, K.7
Matson, W.8
Dichgans, J.9
Beal, M.F.10
-
5
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
1914893, 8751856
-
Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. American journal of human genetics 1996, 59(3):554-560. 1914893, 8751856.
-
(1996)
American journal of human genetics
, vol.59
, Issue.3
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
6
-
-
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(Pt 12):2131-2140.
-
(1997)
Brain
, vol.120
, Issue.PART 12
, pp. 2131-2140
-
-
Schols, L.1
Amoiridis, G.2
Przuntek, H.3
Frank, G.4
Epplen, J.T.5
Epplen, C.6
-
7
-
-
33745677486
-
Scale for the assessment and rating of ataxia: development of a new clinical scale
-
10.1212/01.wnl.0000219042.60538.92, 16769946
-
Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006, 66(11):1717-1720. 10.1212/01.wnl.0000219042.60538.92, 16769946.
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
du Montcel, S.T.2
Baliko, L.3
Berciano, J.4
Boesch, S.5
Depondt, C.6
Giunti, P.7
Globas, C.8
Infante, J.9
Kang, J.S.10
-
8
-
-
0343953522
-
Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
-
10.1016/S0960-8966(00)00108-5, 10899450
-
Vorgerd M, Schols L, Hardt C, Ristow M, Epplen JT, Zange J. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo. Neuromuscul Disord 2000, 10(6):430-435. 10.1016/S0960-8966(00)00108-5, 10899450.
-
(2000)
Neuromuscul Disord
, vol.10
, Issue.6
, pp. 430-435
-
-
Vorgerd, M.1
Schols, L.2
Hardt, C.3
Ristow, M.4
Epplen, J.T.5
Zange, J.6
-
9
-
-
37749053225
-
Brain structural damage in Friedreich's ataxia
-
10.1136/jnnp.2007.124297, 17634216
-
Della Nave R, Ginestroni A, Giannelli M, Tessa C, Salvatore E, Salvi F, Dotti MT, De Michele G, Piacentini S, Mascalchi M. Brain structural damage in Friedreich's ataxia. Journal of neurology, neurosurgery, and psychiatry 2008, 79(1):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
Dotti, M.T.7
De Michele, G.8
Piacentini, S.9
Mascalchi, M.10
-
10
-
-
19944433512
-
[13C]Methionine breath test: a novel method to detect antiretroviral drug-related mitochondrial toxicity
-
Milazzo L, Piazza M, Sangaletti O, Gatti N, Cappelletti A, Adorni F, Antinori S, Galli M, Moroni M, Riva A. [13C]Methionine breath test: a novel method to detect antiretroviral drug-related mitochondrial toxicity. J Antimicrob Chemother 2005, 55(1):84-89.
-
(2005)
J Antimicrob Chemother
, vol.55
, Issue.1
, pp. 84-89
-
-
Milazzo, L.1
Piazza, M.2
Sangaletti, O.3
Gatti, N.4
Cappelletti, A.5
Adorni, F.6
Antinori, S.7
Galli, M.8
Moroni, M.9
Riva, A.10
-
11
-
-
0036913675
-
Review article: breath testing for human liver function assessment
-
10.1046/j.1365-2036.2002.01374.x, 12452932
-
Armuzzi A, Candelli M, Zocco MA, Andreoli A, De Lorenzo A, Nista EC, Miele L, Cremonini F, Cazzato IA, Grieco A, et al. Review article: breath testing for human liver function assessment. Aliment Pharmacol Ther 2002, 16(12):1977-1996. 10.1046/j.1365-2036.2002.01374.x, 12452932.
-
(2002)
Aliment Pharmacol Ther
, vol.16
, Issue.12
, pp. 1977-1996
-
-
Armuzzi, A.1
Candelli, M.2
Zocco, M.A.3
Andreoli, A.4
De Lorenzo, A.5
Nista, E.C.6
Miele, L.7
Cremonini, F.8
Cazzato, I.A.9
Grieco, A.10
-
12
-
-
47749095589
-
Longitudinal effects of hepatitis C virus treatment on hepatic mitochondrial dysfunction assessed by C-methionine breath test
-
10.1111/j.1365-2036.2008.03745.x, 18513202
-
Banasch M, Emminghaus R, Ellrichmann M, Schmidt WE, Goetze O. Longitudinal effects of hepatitis C virus treatment on hepatic mitochondrial dysfunction assessed by C-methionine breath test. Aliment Pharmacol Ther 2008, 28(4):443-449. 10.1111/j.1365-2036.2008.03745.x, 18513202.
-
(2008)
Aliment Pharmacol Ther
, vol.28
, Issue.4
, pp. 443-449
-
-
Banasch, M.1
Emminghaus, R.2
Ellrichmann, M.3
Schmidt, W.E.4
Goetze, O.5
-
13
-
-
79960210152
-
Impact of antiretroviral treatment on (13)C-methionine metabolism as a marker of hepatic mitochondrial function: a longitudinal study
-
Banasch M, Frank J, Serova K, Knyhala K, Kollar S, Potthoff A, Brockmeyer NH, Goetze O. Impact of antiretroviral treatment on (13)C-methionine metabolism as a marker of hepatic mitochondrial function: a longitudinal study. HIV Med 2010,
-
(2010)
HIV Med
-
-
Banasch, M.1
Frank, J.2
Serova, K.3
Knyhala, K.4
Kollar, S.5
Potthoff, A.6
Brockmeyer, N.H.7
Goetze, O.8
-
14
-
-
46249100885
-
Effect of alcohol consumption on the liver detoxication capacity as measured by [13C]methacetin- and [methyl-13C]methionine-breath tests
-
10.1080/10256010802066372, 18569193
-
Wutzke KD, Forberger A, Wigger M. Effect of alcohol consumption on the liver detoxication capacity as measured by [13C]methacetin- and [methyl-13C]methionine-breath tests. Isotopes Environ Health Stud 2008, 44(2):219-226. 10.1080/10256010802066372, 18569193.
-
(2008)
Isotopes Environ Health Stud
, vol.44
, Issue.2
, pp. 219-226
-
-
Wutzke, K.D.1
Forberger, A.2
Wigger, M.3
-
15
-
-
53849094826
-
Disease- and treatment-related predictors of hepatic mitochondrial dysfunction in chronic HIV infection assessed by non-invasive (13)C-methionine breath test diagnostic
-
Banasch M, Knyhala K, Kollar S, Serova K, Potthoff A, Schlottmann R, Schmidt WE, Brockmeyer NH, Goetze O. Disease- and treatment-related predictors of hepatic mitochondrial dysfunction in chronic HIV infection assessed by non-invasive (13)C-methionine breath test diagnostic. Eur J Med Res 2008, 13(9):401-408.
-
(2008)
Eur J Med Res
, vol.13
, Issue.9
, pp. 401-408
-
-
Banasch, M.1
Knyhala, K.2
Kollar, S.3
Serova, K.4
Potthoff, A.5
Schlottmann, R.6
Schmidt, W.E.7
Brockmeyer, N.H.8
Goetze, O.9
-
16
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
10.1093/hmg/9.2.275, 10607838
-
Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Human molecular genetics 2000, 9(2):275-282. 10.1093/hmg/9.2.275, 10607838.
-
(2000)
Human molecular genetics
, vol.9
, Issue.2
, 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
-
17
-
-
34250633616
-
Propofol infusion syndrome
-
10.1111/j.1365-2044.2007.05055.x, 17567345
-
Kam PC, Cardone D. Propofol infusion syndrome. Anaesthesia 2007, 62(7):690-701. 10.1111/j.1365-2044.2007.05055.x, 17567345.
-
(2007)
Anaesthesia
, vol.62
, Issue.7
, pp. 690-701
-
-
Kam, P.C.1
Cardone, D.2
-
18
-
-
0033022361
-
Fatal liver failure associated with valproate therapy in a patient with Friedreich's disease: review of valproate hepatotoxicity in adults
-
10.1111/j.1528-1157.1999.tb00814.x, 10403231
-
Konig SA, Schenk M, Sick C, Holm E, Heubner C, Weiss A, Konig I, Hehlmann R. Fatal liver failure associated with valproate therapy in a patient with Friedreich's disease: review of valproate hepatotoxicity in adults. Epilepsia 1999, 40(7):1036-1040. 10.1111/j.1528-1157.1999.tb00814.x, 10403231.
-
(1999)
Epilepsia
, vol.40
, Issue.7
, pp. 1036-1040
-
-
Konig, S.A.1
Schenk, M.2
Sick, C.3
Holm, E.4
Heubner, C.5
Weiss, A.6
Konig, I.7
Hehlmann, R.8
-
19
-
-
0032756146
-
Clinical and genetic study of Friedreich ataxia in an Australian population
-
10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>3.0.CO;2-2, 10533031
-
Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Clinical and genetic study of Friedreich ataxia in an Australian population. American journal of medical genetics 1999, 87(2):168-174. 10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>3.0.CO;2-2, 10533031.
-
(1999)
American journal of medical genetics
, vol.87
, Issue.2
, pp. 168-174
-
-
Delatycki, M.B.1
Paris, D.B.2
Gardner, R.J.3
Nicholson, G.A.4
Nassif, N.5
Storey, E.6
MacMillan, J.C.7
Collins, V.8
Williamson, R.9
Forrest, S.M.10
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