Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

2021 ◽  
Vol 43 (2) ◽  
pp. 294-302
Author(s):  
Emma Tabe Eko Niba ◽  
Hisahide Nishio ◽  
Yogik Onky Silvana Wijaya ◽  
Poh San Lai ◽  
Takenori Tozawa ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Clinical Phenotypes ◽  
Smn Gene

Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family

1996 ◽  
Vol 97 (3) ◽  
pp. 315-318 ◽  
Author(s):  
Stefania Zappata ◽  
Francesco Tiziano ◽  
Giovanni Neri ◽  
Christina Brahe
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Smn Gene

scholarly journals Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy

2019 ◽  
Vol 14 (3) ◽  
pp. FNL25
Author(s):  
Joseph M Hoolachan ◽  
Emma R Sutton ◽  
Melissa Bowerman
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Genetic Therapy ◽  
Neuron Death ◽  
Muscle Disorders ◽  
Motor Neuron Death ◽  
Smn Gene ◽  
New Treatments ◽  
Spinal Cord Motor Neuron ◽  
Maximal Benefit

Spinal muscular atrophy (SMA) is a childhood disorder caused by loss of the SMN gene. Pathological hallmarks are spinal cord motor neuron death, neuromuscular junction dysfunction and muscle atrophy. The first SMN genetic therapy was recently approved and other SMN-dependent treatments are not far behind. However, not all SMA patients will reap their maximal benefit due to limited accessibility, high costs and differential effects depending on timing of administration and disease severity. The repurposing of commercially available drugs is an interesting strategy to ensure more rapid and less expensive access to new treatments. In this mini-review, we will discuss the potential and relevance of repositioning drugs currently used for neurodegenerative, neuromuscular and muscle disorders for SMA.

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene

Neurology ◽  
1997 ◽  
Vol 48 (5) ◽  
pp. 1443-1445 ◽  
Author(s):  
E. Bussaglia ◽  
E. F. Tizzano ◽  
I. Illa ◽  
C. Cervera ◽  
M. Baiget
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Smn Gene ◽  
Homozygous Deletions

scholarly journals Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China

2013 ◽  
Vol 12 (3) ◽  
pp. 3598-3604 ◽  
Author(s):  
W.L. Liu ◽  
F. Li ◽  
Z.X. He ◽  
R. Ai ◽  
H.W. Ma
Keyword(s):  
Spinal Muscular Atrophy ◽  
Molecular Analysis ◽  
Muscular Atrophy ◽  
Gene Mutations ◽  
Smn Gene

SMN gene deletions in adult-onset spinal muscular atrophy

The Lancet ◽  
1995 ◽  
Vol 346 (8991-8992) ◽  
pp. 1712-1713 ◽  
Author(s):  
Olivier Clermont ◽  
Philippe Burlet ◽  
Suzie Lefebvre ◽  
Lydie Bürglen ◽  
Arnold Munnich ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Adult Onset ◽  
Gene Deletions ◽  
Smn Gene
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