-
1
-
-
0034048904
-
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation
-
Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin 2000; 18: 185-94.
-
(2000)
Neurol Clin
, vol.18
, pp. 185-194
-
-
Sabina, R.L.1
-
2
-
-
0030931707
-
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism symdrome
-
Skyllouriotis ML, Marx M, Bittner RE, Skyllouriotis P, Gross M, Wimmer M. Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism symdrome. Pediatr Neurol 1997; 17: 61-6.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 61-66
-
-
Skyllouriotis, M.L.1
Marx, M.2
Bittner, R.E.3
Skyllouriotis, P.4
Gross, M.5
Wimmer, M.6
-
3
-
-
0019813432
-
Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy
-
Scholte HR, Busch HFM, Luyt-Houwen IEM. Familial AMP deaminase deficiency with skeletal muscle type I atrophy and fatal cardiomyopathy. J Inher Metab Dis 1981; 4: 169-70.
-
(1981)
J Inher Metab Dis
, vol.4
, pp. 169-170
-
-
Scholte, H.R.1
Busch, H.F.M.2
Luyt-Houwen, I.E.M.3
-
4
-
-
0037108211
-
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
-
Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 2002; 90: 28-31.
-
(2002)
Am J Cardiol
, vol.90
, pp. 28-31
-
-
Stöllberger, C.1
Finsterer, J.2
Blazek, G.3
-
5
-
-
0031694689
-
Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle
-
Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL. Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol 1998; 85: 1273-8.
-
(1998)
J Appl Physiol
, vol.85
, pp. 1273-1278
-
-
Norman, B.1
Mahnke-Zizelman, D.K.2
Vallis, A.3
Sabina, R.L.4
-
6
-
-
0034308229
-
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: Case report in a Japanese patient
-
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M. Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromuscul Disord 2000; 10: 472-7.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 472-477
-
-
Abe, M.1
Higuchi, I.2
Morisaki, H.3
Morisaki, T.4
Osame, M.5
-
7
-
-
0036260973
-
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects
-
De Ruiter CJ, May AM, van Engelen BGM, Wevers RA, Steenbergern-Spanjers GC, de Haan A. Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects. Clin Sci 2002; 102: 531-9.
-
(2002)
Clin Sci
, vol.102
, pp. 531-539
-
-
De Ruiter, C.J.1
May, A.M.2
Van Engelen, B.G.M.3
Wevers, R.A.4
Steenbergern-Spanjers, G.C.5
De Haan, A.6
-
8
-
-
0242270694
-
Associations between cardiorespiratory responses to exercise and the C34T AMPD1 polymorphism in the HERITAGE family study
-
Rico-Sanz J, Rankinen T, Joanisse DR, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Associations between cardiorespiratory responses to exercise and the C34T AMPD1 polymorphism in the HERITAGE family study. Physiol Genomics 2003; 14: 161-6.
-
(2003)
Physiol Genomics
, vol.14
, pp. 161-166
-
-
Rico-Sanz, J.1
Rankinen, T.2
Joanisse, D.R.3
Leon, A.S.4
Skinner, J.S.5
Wilmore, J.H.6
Rao, D.C.7
Bouchard, C.8
-
9
-
-
0032949513
-
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency
-
Fishbein WN. Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. Ann Neurol 1999; 45: 547-8.
-
(1999)
Ann Neurol
, vol.45
, pp. 547-548
-
-
Fishbein, W.N.1
-
10
-
-
0031926570
-
Genetic characteristics of myoadenylate deaminase deficiency
-
Verzijl HTFM, van Engelen BGM, Luyten JAFM, Steenbergern GCH, van den Heuvel LPWJ, ter Laak HJ, Padberg GW, Wevers RA. Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol 1998; 44: 140-3.
-
(1998)
Ann Neurol
, vol.44
, pp. 140-143
-
-
Verzijl, H.T.F.M.1
Van Engelen, B.G.M.2
Luyten, J.A.F.M.3
Steenbergern, G.C.H.4
Van Den Heuvel, L.P.W.J.5
Ter Laak, H.J.6
Padberg, G.W.7
Wevers, R.A.8
-
11
-
-
4043103774
-
Myoadenylate deaminase
-
John Wiley & Sons, New York
-
Fishbein WN. Myoadenylate deaminase. In: Encyclopedia of molecular medicine. John Wiley & Sons, New York, 2002; 3: 2187-90.
-
(2002)
Encyclopedia of Molecular Medicine
, vol.3
, pp. 2187-2190
-
-
Fishbein, W.N.1
-
12
-
-
0030969651
-
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
-
Gross M. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inher Metab Dis 1997; 20: 186-92.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 186-192
-
-
Gross, M.1
-
13
-
-
0033596881
-
Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure
-
Loh E, Rehbeck TR, Mahoney PD, DeNofrio D, Swain JL, Holmes EW. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 1999; 99: 1422-5.
-
(1999)
Circulation
, vol.99
, pp. 1422-1425
-
-
Loh, E.1
Rehbeck, T.R.2
Mahoney, P.D.3
DeNofrio, D.4
Swain, J.L.5
Holmes, E.W.6
-
14
-
-
0030892184
-
Cloning and expression of cDNA encoding heart-type isioform of AMP deaminase
-
Wang X, Morisaki H, Sermsuvitayawong K, Mineo I, Toyama K, Ogasawara N, Mukai T, Morisaki T. Cloning and expression of cDNA encoding heart-type isioform of AMP deaminase. Gene 1997; 188: 285-90.
-
(1997)
Gene
, vol.188
, pp. 285-290
-
-
Wang, X.1
Morisaki, H.2
Sermsuvitayawong, K.3
Mineo, I.4
Toyama, K.5
Ogasawara, N.6
Mukai, T.7
Morisaki, T.8
|