-
1
-
-
0020353604
-
Characteristics of the cardiac hypertrophy in Friedreich's ataxia
-
1 Gottdiener JS, Hawley RJ, Maron BJ, et al. Characteristics of the cardiac hypertrophy in Friedreich's ataxia. Am Heart J 1982;103:525-31.
-
(1982)
Am Heart J
, vol.103
, pp. 525-531
-
-
Gottdiener, J.S.1
Hawley, R.J.2
Maron, B.J.3
-
2
-
-
0014446562
-
The heart in Friedeich's ataxia
-
2 Hewer RL. The heart in Friedeich's Ataxia. Br Heart J 1969;31:5-14.
-
(1969)
Br Heart J
, vol.31
, pp. 5-14
-
-
Hewer, R.L.1
-
3
-
-
0022560674
-
Cardiac involvement in Friedreich's ataxia: A clinical study of 75 patients
-
3 Child JS, Perloff JK, Bach PM, et al. Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. J Am Coll Cardiol 1986;7:1370-8.
-
(1986)
J Am Coll Cardiol
, vol.7
, pp. 1370-1378
-
-
Child, J.S.1
Perloff, J.K.2
Bach, P.M.3
-
4
-
-
0018966210
-
Left ventricular function in Friedreich's ataxia. An echocardiographic study
-
4 Sutton MG, Olukotun AY, Tajik AJ, et al. Left ventricular function in Friedreich's ataxia. An echocardiographic study. Br Heart J 1980;44:309-16.
-
(1980)
Br Heart J
, vol.44
, pp. 309-316
-
-
Sutton, M.G.1
Olukotun, A.Y.2
Tajik, A.J.3
-
5
-
-
0022478421
-
Spectrum of cardiac involvement in Friedreich's ataxia: Clinical, electrocardiographic and echocardiographic observations
-
5 Alboliras ET, Shub C, Gomez MR, et al. Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol 1986;58:518-24.
-
(1986)
Am J Cardiol
, vol.58
, pp. 518-524
-
-
Alboliras, E.T.1
Shub, C.2
Gomez, M.R.3
-
6
-
-
0023689831
-
Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia
-
6 Giunta A, Maione S, Biagini R, et al. 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
-
7
-
-
0023268245
-
Morphologic and functional characteristics of the heart in Friedreich's ataxia
-
7 Unverferth DV, Schmidt WR, Baker PB, et al. Morphologic and functional characteristics of the heart in Friedreich's ataxia. Am J Med 1987;82:5-10.
-
(1987)
Am J Med
, vol.82
, pp. 5-10
-
-
Unverferth, D.V.1
Schmidt, W.R.2
Baker, P.B.3
-
8
-
-
0021354392
-
Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings
-
8 Ackroyd RS, Finnegan JA, Green SH. Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings. Arch Dis Child 1984;59:217-21.
-
(1984)
Arch Dis Child
, vol.59
, pp. 217-221
-
-
Ackroyd, R.S.1
Finnegan, J.A.2
Green, S.H.3
-
9
-
-
0018966210
-
Left ventricular function in Friedreich's ataxia. An echocardiographic study
-
9 Sutton MG, Olukotun AY, Tajik AJ, et al. Left ventricular function in Friedreich's ataxia. An echocardiographic study. Br Heart J 1980;44:309-16.
-
(1980)
Br Heart J
, vol.44
, pp. 309-316
-
-
Sutton, M.G.1
Olukotun, A.Y.2
Tajik, A.J.3
-
10
-
-
0023268245
-
Morphologic and functional characteristics of the heart in Friedreich's ataxia
-
10 Unverferth DV, Schmidt WR, Baker PB, et al. Morphologic and functional characteristics of the heart in Friedreich's ataxia. Am J Med 1981;82:5-10.
-
(1981)
Am J Med
, vol.82
, pp. 5-10
-
-
Unverferth, D.V.1
Schmidt, W.R.2
Baker, P.B.3
-
11
-
-
0026704994
-
Cardiomyopathy in Friedreich's ataxia: A Doppler-echocardiographic study
-
11 Morvan D, Komajda M, Doan LD, et al. Cardiomyopathy in Friedreich's 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
-
12
-
-
0022478421
-
Spectrum of cardiac involvement in Friedreich's ataxia: Clinical, electrocardiographic and echocardiographic observations
-
12 Alboliras ET, Shub C, Gomez MR, et al. Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol 1986;58:518-24.
-
(1986)
Am J Cardiol
, vol.58
, pp. 518-524
-
-
Alboliras, E.T.1
Shub, C.2
Gomez, M.R.3
-
13
-
-
0017032630
-
Hemodynamic findings in Friedreich's ataxia
-
13 Cote M, Davignon A, Elias G, et al. Hemodynamic findings in Friedreich's ataxia. Can J Neural Sci 1976;3:333-6.
-
(1976)
Can J Neural Sci
, vol.3
, pp. 333-336
-
-
Cote, M.1
Davignon, A.2
Elias, G.3
-
14
-
-
0017757638
-
Hypertrophic cardiomyopathy: The heart disease of Friedreich's ataxia
-
14 Smith ER, Sangalang VE, Heffernan LP, et al. Hypertrophic cardiomyopathy: the heart disease of Friedreich's ataxia. Am Heart J 1977;94:428-34.
-
(1977)
Am Heart J
, vol.94
, pp. 428-434
-
-
Smith, E.R.1
Sangalang, V.E.2
Heffernan, L.P.3
-
15
-
-
0029024879
-
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
-
15 Rayment I, Holden HM, Sellers JR, et al. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 1995;92:3864-8.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 3864-3868
-
-
Rayment, I.1
Holden, H.M.2
Sellers, J.R.3
-
16
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
-
16 Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64.
-
(1995)
N Engl J Med
, vol.332
, pp. 1058-1064
-
-
Watkins, H.1
McKenna, W.J.2
Thierfelder, L.3
-
17
-
-
0029083650
-
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults
-
17 Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation 1995;92:785-9.
-
(1995)
Circulation
, vol.92
, pp. 785-789
-
-
Maron, B.J.1
Gardin, J.M.2
Flack, J.M.3
-
18
-
-
0028935226
-
Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations
-
18 Marian AJ, Mares A, Kelly DP, et al. Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations. Eur Heart J 1995;16:368-76.
-
(1995)
Eur Heart J
, vol.16
, pp. 368-376
-
-
Marian, A.J.1
Mares, A.2
Kelly, D.P.3
-
19
-
-
0029128024
-
Prevalence of hypertrophic cardiomyopathy and limitations of screening methods
-
19 Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation 1995;92:700-4.
-
(1995)
Circulation
, vol.92
, pp. 700-704
-
-
Fananapazir, L.1
Epstein, N.D.2
-
20
-
-
0029089583
-
Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
-
20 Watkins H, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 1995;4:1721-7.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1721-1727
-
-
Watkins, H.1
Seidman, J.G.2
Seidman, C.E.3
-
21
-
-
0031052480
-
The management of hypertrophic cardiomyopathy
-
21 Spirito P, Seidman CE, McKenna WJ, et al. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;336:775-85.
-
(1997)
N Engl J Med
, vol.336
, pp. 775-785
-
-
Spirito, P.1
Seidman, C.E.2
McKenna, W.J.3
-
22
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
22 Campuzano 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
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
23
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
23 Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-12.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
-
24
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedrech ataxia
-
24 Rötig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedrech ataxia. Nature Genet 1997;17:215-17.
-
(1997)
Nature Genet
, vol.17
, pp. 215-217
-
-
Rötig, A.1
De Lonlay, P.2
Chretien, D.3
-
25
-
-
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
-
25 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
-
26
-
-
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
-
26 Harding AE, Hewer RL. 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. Q J Med 1983;52:489-502.
-
(1983)
Q J Med
, vol.52
, pp. 489-502
-
-
Harding, A.E.1
Hewer, R.L.2
-
27
-
-
0022495876
-
Five-year follow-up of Friedreich's ataxia cardiomyopathy
-
27 Hawley RJ, Gottdiener JS. Five-year follow-up of Friedreich's ataxia cardiomyopathy. Arch Intern Med 1986;146:483-8.
-
(1986)
Arch Intern Med
, vol.146
, pp. 483-488
-
-
Hawley, R.J.1
Gottdiener, J.S.2
-
28
-
-
0024050176
-
Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia
-
28 Casazza F, Morpurgo M. Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia. G Ital Cardiol 1988;18:615-18.
-
(1988)
G Ital Cardiol
, vol.18
, pp. 615-618
-
-
Casazza, F.1
Morpurgo, M.2
-
29
-
-
0019643729
-
Case report: Echocardiographic observations in patients with Friedreich's ataxia
-
29 Weiss E, Kronzon I, Winer HE, et al. Case report: echocardiographic observations in patients with Friedreich's ataxia. Am J Med Sci 1981;282:136-40.
-
(1981)
Am J Med Sci
, vol.282
, pp. 136-140
-
-
Weiss, E.1
Kronzon, I.2
Winer, H.E.3
-
30
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
30 Dürr 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
-
-
Dürr, A.1
Cossee, M.2
Agid, Y.3
-
31
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
31 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
-
32
-
-
0030889821
-
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia
-
32 Isnard R, Kalotka H, Durr A, et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. Circulation 1997;95:2247-9.
-
(1997)
Circulation
, vol.95
, pp. 2247-2249
-
-
Isnard, R.1
Kalotka, H.2
Durr, A.3
-
33
-
-
17144467700
-
Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
-
33 Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich 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
-
34
-
-
0029936866
-
Human alpha-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency
-
34 Hentati A, Deng HX, Hung WY, et al. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Ann Neurol 1996;39:295-300.
-
(1996)
Ann Neurol
, vol.39
, pp. 295-300
-
-
Hentati, A.1
Deng, H.X.2
Hung, W.Y.3
-
35
-
-
85038192626
-
Friedreich ataxia without GAA expansions/expansions without Friedriech ataxia
-
35 McCabe D, Ryan F, Murphy R, et al. Friedreich ataxia without GAA expansions/expansions without Friedriech ataxia [abstract]. J Med Genet 1997;34:S28.
-
(1997)
J Med Genet
, vol.34
-
-
McCabe, D.1
Ryan, F.2
Murphy, R.3
|