-
1
-
-
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: 248-50.
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
-
2
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Compuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423-7.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Compuzano, V.1
Montermini, L.2
Molto, M.D.3
-
3
-
-
84866358194
-
Friedreich's ataxia: Cardiac evaluation of 25 patients with clinical diagnosis and literature review
-
(Review)
-
Albano LM, Nishioka SA, Moyses RL, et al. Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review. Arq Bras Cardiol 2002; 78: 444-51. (Review)
-
(2002)
Arq Bras Cardiol
, vol.78
, pp. 444-451
-
-
Albano, L.M.1
Nishioka, S.A.2
Moyses, R.L.3
-
4
-
-
0023802480
-
Glucose metabolism alterations in Friedreich' s ataxia
-
Finocchiaro G, Baio G, Micossi P, Pozza G, di Donato S. Glucose metabolism alterations in Friedreich' s ataxia. Neurology 1988; 38: 1292-6.
-
(1988)
Neurology
, vol.38
, pp. 1292-1296
-
-
Finocchiaro, G.1
Baio, G.2
Micossi, P.3
Pozza, G.4
di Donato, S.5
-
5
-
-
0033951420
-
Very late-onset Freidreich ataxia despite large GAA triplet repeat expansions
-
Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM. Very late-onset Freidreich ataxia despite large GAA triplet repeat expansions. Arch Neurol 2000; 57: 246-51.
-
(2000)
Arch Neurol
, vol.57
, pp. 246-251
-
-
Bidichandani, S.I.1
Garcia, C.A.2
Patel, P.I.3
Dimachkie, M.M.4
-
6
-
-
0034641655
-
Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients
-
Dutka DP, Donnelly JE, Palka P. Lange A, Nunez DJ, Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 2000; 102: 1276-82.
-
(2000)
Circulation
, vol.102
, pp. 1276-1282
-
-
Dutka, D.P.1
Donnelly, J.E.2
Palka, P.3
Lange, A.4
Nunez, D.J.5
Nihoyannopoulos, P.6
-
7
-
-
0035405279
-
Doppler myocardial velocity gradient as a new diagnostic index for the assessment of myocardial disease
-
(Review)
-
Palka P, Lange A, Burstow D. Doppler myocardial velocity gradient as a new diagnostic index for the assessment of myocardial disease. Pol Merkuriusz Lek 2001; 11: 72-8. (Review)
-
(2001)
Pol Merkuriusz Lek
, vol.11
, pp. 72-78
-
-
Palka, P.1
Lange, A.2
Burstow, D.3
-
8
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
9
-
-
19044368790
-
American Society of Echocardiography. Recommendations for a standardized report for adult transthoracic echocardiography: A report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report
-
Gardin JM, Adams DB, Douglas PS, et al. American Society of Echocardiography. Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocardiogr 2002; 15: 275-90.
-
(2002)
J Am Soc Echocardiogr
, vol.15
, pp. 275-290
-
-
Gardin, J.M.1
Adams, D.B.2
Douglas, P.S.3
-
10
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfhlp, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfhlp, a putative homolog of frataxin. Science 1997; 276: 1709-12.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
de Silva, D.2
Oaks, R.3
-
11
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997; 16: 352-7.
-
(1997)
Nat Genet
, vol.16
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
12
-
-
0032756146
-
Clinical and genetic study of Freidreich ataxia in an Australian population
-
Delatycki MB, Paris DBP, Gardner RJ, et al. Clinical and genetic study of Freidreich ataxia in an Australian population. Am J Med Genet 1999; 87: 168-74.
-
(1999)
Am J Med Genet
, vol.87
, pp. 168-174
-
-
Delatycki, M.B.1
Paris, D.B.P.2
Gardner, R.J.3
-
13
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996; 335: 1169-75.
-
(1996)
N Engl J Med
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.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: 554-60.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
15
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia
-
Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia. Nat Genet 1997; 17: 215-7.
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
-
16
-
-
17744391751
-
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity ot cardiac manifestation in patients with Friedreich's ataxia
-
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 ot cardiac manifestation in patients with Friedreich's ataxia. J Mol Med 2001; 78: 626-32.
-
(2001)
J Mol Med
, vol.78
, pp. 626-632
-
-
Bit-Avragim, N.1
Perrot, A.2
Schols, L.3
-
17
-
-
0030889821
-
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreichs ataxia
-
Isnard R. Kalotka H, Durr A, et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreichs ataxia. Circulation 1997; 95: 2247-9.
-
(1997)
Circulation
, vol.95
, pp. 2247-2249
-
-
Isnard, R.1
Kalotka, H.2
Durr, A.3
-
18
-
-
0031046383
-
May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia?
-
Maione S, Giunta A, Filla A, et al. May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia? Clin Cardiol 1997; 20: 141- 5.
-
(1997)
Clin Cardiol
, vol.20
, pp. 141-145
-
-
Maione, S.1
Giunta, A.2
Filla, A.3
-
19
-
-
0022560674
-
Cardiac involvement in Friedreich's ataxia: A clinical study of 75 patients
-
Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA. Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. J Am Coll Cardiol 1985; 7: 1370-8.
-
(1985)
J Am Coll Cardiol
, vol.7
, pp. 1370-1378
-
-
Child, J.S.1
Perloff, J.K.2
Bach, P.M.3
Wolfe, A.D.4
Perlman, S.5
Kark, R.A.6
-
20
-
-
0026704994
-
Cardiomyopathy in Friedreichs ataxia: A Doppler-echocardiographic study
-
Morvan D, Komajda M, Doan LD, et al. Cardiomyopathy in Friedreichs ataxia: a Doppler-echocardiographic study. Eur Heart J 1992; 13: 1393-8.
-
(1992)
Eur Heart J
, vol.13
, pp. 1393-1398
-
-
Morvan, D.1
Komajda, M.2
Doan, L.D.3
-
21
-
-
0023689831
-
Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia
-
Giunta A, Maione S, Biagini R, Filla A, De Michele G, Campanella G. Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia. Cardiology 1988; 75: 321-7.
-
(1988)
Cardiology
, vol.75
, pp. 321-327
-
-
Giunta, A.1
Maione, S.2
Biagini, R.3
Filla, A.4
De Michele, G.5
Campanella, G.6
-
22
-
-
0033027550
-
Marked variation in the cardiomyopathy associated with Friedreich's ataxia
-
Dutka DP, Donnelly JE, Nihoyannopoulos P, Oakley CM, Nunez DJ. Marked variation in the cardiomyopathy associated with Friedreich's ataxia. Heart 1999; 81: 141-7.
-
(1999)
Heart
, vol.81
, pp. 141-147
-
-
Dutka, D.P.1
Donnelly, J.E.2
Nihoyannopoulos, P.3
Oakley, C.M.4
Nunez, D.J.5
-
23
-
-
0036121452
-
Evaluation of left ventricular systolic and diastolic global function: Peak positive and negative myocardial velocity gradients in M-mode Doppler tissue imaging
-
Ueno Y, Nakamura Y, Ohbayashi Y, Kinoshita M. Evaluation of left ventricular systolic and diastolic global function: peak positive and negative myocardial velocity gradients in M-mode Doppler tissue imaging. Echocardiography 2002; 19: 15-25.
-
(2002)
Echocardiography
, vol.19
, pp. 15-25
-
-
Ueno, Y.1
Nakamura, Y.2
Ohbayashi, Y.3
Kinoshita, M.4
-
24
-
-
3042757136
-
Peak negative myocardial velocity gradient and wall-thickening velocity during early diastole are noninvasive parameters of left ventricular diastolic function in patients with Duchenne's progressive muscular dystrophy
-
Mori K, Edagawa T, Inoue M, et al. Peak negative myocardial velocity gradient and wall-thickening velocity during early diastole are noninvasive parameters of left ventricular diastolic function in patients with Duchenne's progressive muscular dystrophy. J Am Soc Echocardiogr 2004; 17: 322-9.
-
(2004)
J Am Soc Echocardiogr
, vol.17
, pp. 322-329
-
-
Mori, K.1
Edagawa, T.2
Inoue, M.3
-
25
-
-
0030698732
-
Doppler tissue imaging: A noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures
-
Nagueh SF, Middleton KJ, Kopelen HA, Zoghbi WA, Quinones MA. Doppler tissue imaging: a noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures. J Am Coll Cardiol 1997; 30: 1527-33.
-
(1997)
J Am Coll Cardiol
, vol.30
, pp. 1527-1533
-
-
Nagueh, S.F.1
Middleton, K.J.2
Kopelen, H.A.3
Zoghbi, W.A.4
Quinones, M.A.5
|