-
1
-
-
84924923845
-
Myopathy due to a defect of muscle glycogen breakdown
-
McArdlc B.; Myopathy due to a defect of muscle glycogen breakdown. Clin Sci 1951:24:13-33.
-
(1951)
Clin Sci
, vol.24
, pp. 13-33
-
-
McArdlc, B.1
-
2
-
-
0000079854
-
Phosphorylase deficiency
-
Engel AG. Banker BQ (eds): New York. McGraw-Hill
-
DiMauro S., Bresolin N.; Phosphorylase deficiency; in Engel AG. Banker BQ (eds): Myology. New York. McGraw-Hill. 1986, pp 1585-1601.
-
(1986)
Myology
, pp. 1585-1601
-
-
DiMauro, S.1
Bresolin, N.2
-
3
-
-
0000243356
-
Glycogen storage diseases
-
Scrivcr CR. Beaudet AL, Sly WS. Valle D (eds): New York. McGraw-Hill
-
Hers HG., van Hoof F., de Barsy T.; Glycogen storage diseases; in Scrivcr CR. Beaudet AL, Sly WS. Valle D (eds): The Metabolic Basis of Inherited Disease. New York. McGraw-Hill. 1989. pp 425-452.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 425-452
-
-
Scrivcr, C.R.1
Van Hoof, F.2
Barsy, T.3
-
4
-
-
0018086688
-
Fatal infantile form of muscle phosphorylase deficiency
-
DiMauro S., Hartlage PL.; Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978:28:1124-1129.
-
(1978)
Neurology
, vol.28
, pp. 1124-1129
-
-
DiMauro, S.1
Hartlage, P.L.2
-
5
-
-
0020514693
-
Congenital myopathy due to phosphorylase deficiency
-
Cornelio F., Bresolin N., DiMauro S., Mora M., Balestrini MR.; Congenital myopathy due to phosphorylase deficiency. Neurology 1983:33: 1383-1385.
-
(1983)
Neurology
, vol.33
, pp. 1383-1385
-
-
Cornelio, F.1
Bresolin, N.2
DiMauro, S.3
Mora, M.4
Balestrini, M.R.5
-
6
-
-
0024230593
-
McArdle's disease: Biochemical and molecular genetic studies
-
Servidei S., Shanske S., Zeviani M., Lebo R., Fletlerick R., DiMauro S.; McArdle's disease: Biochemical and molecular genetic studies. Ann Neurol 1988;24:774-781.
-
(1988)
Ann Neurol
, vol.24
, pp. 774-781
-
-
Servidei, S.1
Shanske, S.2
Zeviani, M.3
Lebo, R.4
Fletlerick, R.5
DiMauro, S.6
-
7
-
-
0021071256
-
A new method for the myofibrillar Ca"-ATPasc reaction based on the use of metachromatic dyes: Its advantages in muscle fibre typing
-
Doriguzzi C., Mongini T., Palmucci L., Schil'fer D.; A new method for the myofibrillar Ca"-ATPasc reaction based on the use of metachromatic dyes: Its advantages in muscle fibre typing. Histochemistry 1983;79:289-294.
-
(1983)
Histochemistry
, vol.79
, pp. 289-294
-
-
Doriguzzi, C.1
Mongini, T.2
Palmucci, L.3
Schil'fer, D.4
-
8
-
-
0026528269
-
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adull case
-
Mongini T., Doriguzzi C., Palmucci L., Dc Francesco A., Bet L., Manfredi L., Ponzetto C., Bresolin N.; Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adull case. Eur Neurol 1992:32:170-176.
-
(1992)
Eur Neurol
, vol.32
, pp. 170-176
-
-
Mongini, T.1
Doriguzzi, C.2
Palmucci, L.3
Dc Francesco, A.4
Bet, L.5
Manfredi, L.6
Ponzetto, C.7
Bresolin, N.8
-
9
-
-
0022528858
-
Juvenile-onset acid maltase deficiency with unusual familial features
-
Danon MJ., DiMauro S., Shanske S., Archer FL., Miranda AF.; Juvenile-onset acid maltase deficiency with unusual familial features. Neurology 1986;36:818-822.
-
(1986)
Neurology
, vol.36
, pp. 818-822
-
-
Danon, M.J.1
DiMauro, S.2
Shanske, S.3
Archer, F.L.4
Miranda, A.F.5
-
10
-
-
0018423953
-
De-brancher deficiency: Neuromuscular disorder in five adults
-
DiMauro S., Hartwig GB., Hays AP., Eastwood AB., Franco R., Olarte M., Chang M., Roses AD., Fetell F., Schoenfeldt RS., Sterne LZ.; De-brancher deficiency: Neuromuscular disorder in five adults. Ann Neurol 1979;5:422-436.
-
(1979)
Ann Neurol
, vol.5
, pp. 422-436
-
-
DiMauro, S.1
Hartwig, G.B.2
Hays, A.P.3
Eastwood, A.B.4
Franco, R.5
Olarte, M.6
Chang, M.7
Roses, A.D.8
Fetell, F.9
Schoenfeldt, R.S.10
Sterne, L.Z.11
-
11
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage Tj
-
Laemmli VK.; Cleavage of structural proteins during the assembly of the head of bacteriophage Tj. Nature 1970:227:680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, V.K.1
-
12
-
-
0011228610
-
Late-onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects
-
Engel WK., Eyerman EL., Williams HE.; Late-onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects. N Engl J Med 1963:268:135.
-
(1963)
N Engl J Med
, vol.268
, pp. 135
-
-
Engel, W.K.1
Eyerman, E.L.2
Williams, H.E.3
-
14
-
-
0023009798
-
Acute renal failure in McAr-dlc's disease
-
Tabaia T., Kikunami K., Matsushita Y., Inouc T., Inoue T., Okamoto T., Kono N., Takahashi M., Tarui S., Morii H.; Acute renal failure in McAr-dlc's disease. Nephron 1986;44:371-374.
-
(1986)
Nephron
, vol.44
, pp. 371-374
-
-
Tabaia, T.1
Kikunami, K.2
Matsushita, Y.3
Inouc, T.4
Inoue, T.5
|