Hereditary Proximal Spinal Muscular Atrophy Biochemical Investigations

1965 ◽  
Vol 25 (1-2) ◽  
pp. 79-86 ◽  
Author(s):  
V. Ionăşescu ◽  
N. Luca ◽  
A. Petrescu ◽  
G. Călcăianu
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Proximal Spinal Muscular Atrophy

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy

2012 ◽  
Vol 22 (3) ◽  
pp. 258-262 ◽  
Author(s):  
Sabine Rudnik-Schöneborn ◽  
Larissa Arning ◽  
Jörg T. Epplen ◽  
Klaus Zerres
Keyword(s):  
Spinal Muscular Atrophy ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Muscular Atrophy ◽  
Proximal Spinal Muscular Atrophy

scholarly journals Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.

1984 ◽  
Vol 21 (6) ◽  
pp. 447-450 ◽  
Author(s):  
I Hausmanowa-Petrusewicz ◽  
J Zaremba ◽  
J Borkowska ◽  
W Szirkowiec
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Childhood And Adolescence ◽  
Sex Influence ◽  
Proximal Spinal Muscular Atrophy

Different entities of proximal spinal muscular atrophy within one family

1997 ◽  
Vol 100 (5-6) ◽  
pp. 676-680 ◽  
Author(s):  
B. Wirth ◽  
D. Tessarolo ◽  
E. Hahnen ◽  
S. Rudnik-Schöneborn ◽  
H. Raschke ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Proximal Spinal Muscular Atrophy

Hereditary Proximal Spinal Muscular Atrophy

BMJ ◽  
1966 ◽  
Vol 2 (5511) ◽  
pp. 464-465
Author(s):  
J. M. Garvie ◽  
A. L. Woolf
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Proximal Spinal Muscular Atrophy

SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

2015 ◽  
Vol 51 (9) ◽  
pp. 925-931
Author(s):  
V. V. Zabnenkova ◽  
E. L. Dadali ◽  
S. B. Artemieva ◽  
I. V. Sharkova ◽  
G. E. Rudenskaya ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Single Copy ◽  
Type I ◽  
Smn1 Gene ◽  
Proximal Spinal Muscular Atrophy
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