Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)

1993 ◽  
Vol 329 (4) ◽  
pp. 241-245 ◽  
Author(s):  
Seiichi Tsujino ◽  
Sara Shanske ◽  
Salvatore DiMauro
Keyword(s):  
Genetic Heterogeneity ◽  
Molecular Genetic ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

McArdle's disease: Biochemical and molecular genetic studies

1988 ◽  
Vol 24 (6) ◽  
pp. 774-781 ◽  
Author(s):  
Serenella Servidei ◽  
Sara Shanske ◽  
Massimo Zeviani ◽  
Roger Lebo ◽  
Robert Fletterick ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Studies ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

1995 ◽  
Vol 18 (S14) ◽  
pp. S23-S27 ◽  
Author(s):  
Seiichi Tsujino ◽  
Sara Shanske ◽  
Ikuya Nonaka ◽  
Salvatore DiMauro
Keyword(s):  
Genetic Basis ◽  
Molecular Genetic ◽  
Mcardle's Disease ◽  
Molecular Genetic Basis ◽  
Mcardle’S Disease

Molecular genetic analysis of McArdle's disease in Spanish patients

Neurology ◽  
1998 ◽  
Vol 51 (1) ◽  
pp. 260-262 ◽  
Author(s):  
A. L. Andreu ◽  
C. Bruno ◽  
J. Gamez ◽  
S. Shanske ◽  
C. Cervera ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

Diagnosis of McArdle's disease by molecular genetic analysis of blood

Neurology ◽  
1996 ◽  
Vol 47 (2) ◽  
pp. 579-580 ◽  
Author(s):  
M. El-Schahawi ◽  
S. Tsujino ◽  
S. Shanske ◽  
S. DiMauro
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

2002 ◽  
Vol 12 (9) ◽  
pp. 824-827 ◽  
Author(s):  
G HADJIGEORGIOU ◽  
M SADEH ◽  
O MUSUMECI ◽  
R DABBY ◽  
L DEGIROLAMI ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Mcardle's Disease ◽  
Mcardle’S Disease ◽  
Jewish Families

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

2004 ◽  
Vol 68 (1) ◽  
pp. 17-22 ◽  
Author(s):  
M. A. Martin ◽  
J. C. Rubio ◽  
R. A. Wevers ◽  
B. G. M. Van Engelen ◽  
G. C. H. Steenbergen ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

McArdle's disease: two clinical expressions in the same pedigree

1990 ◽  
Vol 237 (4) ◽  
pp. 267-270 ◽  
Author(s):  
A. Papadimitriou ◽  
P. Manta ◽  
R. Divari ◽  
A. Karabetsos ◽  
E. Papadimitriou ◽  
...  
Keyword(s):  
Mcardle's Disease ◽  
Mcardle’S Disease
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