-
1
-
-
0028834213
-
Muscle AMP deaminase deficiency in 2% of a healthy population
-
Norman B, Glenmark B, Jansson E. Muscle AMP deaminase deficiency in 2% of a healthy population. Muscle Nerve 1995;18:239-241.
-
(1995)
Muscle Nerve
, vol.18
, pp. 239-241
-
-
Norman, B.1
Glenmark, B.2
Jansson, E.3
-
2
-
-
0018200117
-
Myoadenilate deaminase deficiency: A new disease of muscle
-
Fishbein WN, Armbrustmacher VW, Griffin JL. Myoadenilate deaminase deficiency: a new disease of muscle. Science 1978;200:545-548.
-
(1978)
Science
, vol.200
, pp. 545-548
-
-
Fishbein, W.N.1
Armbrustmacher, V.W.2
Griffin, J.L.3
-
3
-
-
0023395339
-
Myoadenylate deaminase deficiency: Absence of correlation with exercise intolerance in 452 muscle biopsies
-
Mercelis R, Martin JJ, de Barsy T, Van den Berghe G. Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies. J Neurol 1987;234:385-389.
-
(1987)
J Neurol
, vol.234
, pp. 385-389
-
-
Mercelis, R.1
Martin, J.J.2
De Barsy, T.3
Van den Berghe, G.4
-
4
-
-
0026642190
-
Molecular basis of AMP deaminase deficiency in skeletal muscle
-
Morisaki T, Gross M, Morisaki H, Pongratz D, Zöllner N, Holmes EW. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci USA 1992;89:6457-6461.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6457-6461
-
-
Morisaki, T.1
Gross, M.2
Morisaki, H.3
Pongratz, D.4
Zöllner, N.5
Holmes, E.W.6
-
5
-
-
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;20:186-192.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 186-192
-
-
Gross, M.1
-
6
-
-
0026542526
-
Molecular analysis of the myoadenilate deaminase deficiencies
-
Sabina RL, Fishbein WN, Pezeshkpour G, Clarke PRH, Holmes EW. Molecular analysis of the myoadenilate deaminase deficiencies. Neurology 1992;42:170-179.
-
(1992)
Neurology
, vol.42
, pp. 170-179
-
-
Sabina, R.L.1
Fishbein, W.N.2
Pezeshkpour, G.3
Clarke, P.R.H.4
Holmes, E.W.5
-
8
-
-
0019524236
-
Muscle adenylate deaminase deficiency. Report of six new cases
-
Kar NC, Pearson CM. Muscle adenylate deaminase deficiency. Report of six new cases. Arch Neurol 1981;38:279-281.
-
(1981)
Arch Neurol
, vol.38
, pp. 279-281
-
-
Kar, N.C.1
Pearson, C.M.2
-
9
-
-
0031906409
-
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
-
Bruno C, Minetti C, Shanske S, et al. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology 1998;50:296-298.
-
(1998)
Neurology
, vol.50
, pp. 296-298
-
-
Bruno, C.1
Minetti, C.2
Shanske, S.3
-
10
-
-
0027511236
-
Genetics and physiology of the myotonic muscle disorders
-
Ptacek LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993;328:482-489.
-
(1993)
N Engl J Med
, vol.328
, pp. 482-489
-
-
Ptacek, L.J.1
Johnson, K.J.2
Griggs, R.C.3
-
11
-
-
0029830509
-
Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect
-
Koty PP, Pegoraro E, Hobson G, et al. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996;47:963-968.
-
(1996)
Neurology
, vol.47
, pp. 963-968
-
-
Koty, P.P.1
Pegoraro, E.2
Hobson, G.3
-
12
-
-
0036759083
-
The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel CIC-1
-
Warnstedt M, Sun C, Poser B, et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel CIC-1. J Neurosci 2002;22:7462-7470.
-
(2002)
J Neurosci
, vol.22
, pp. 7462-7470
-
-
Warnstedt, M.1
Sun, C.2
Poser, B.3
-
13
-
-
0036314121
-
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population
-
Gross M, Rotzer E, Kolle P, et al. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord 2002;12:558-565.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 558-565
-
-
Gross, M.1
Rotzer, E.2
Kolle, P.3
-
14
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr K, Devaney JM, LaFleur B, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56:1486-1495.
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K.1
Devaney, J.M.2
LaFleur, B.3
|