GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy

2014 ◽  
Vol 61-62 ◽  
pp. 132-139 ◽  
Author(s):  
Ah Jung Seo ◽  
Byung Sun Park ◽  
Junyang Jung
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
New Model ◽  
Spinal Muscular Atrophy Type ◽  
Potential Contributor ◽  
Type V

Adenoviral-mediated mouse model of motor impairment in distal spinal muscular atrophy type V

2014 ◽  
Vol 18 (5) ◽  
pp. 311-317 ◽  
Author(s):  
Ah Jung Seo ◽  
Byung Sun Park ◽  
Na Young Jeong ◽  
Doyen Kim ◽  
Sunghoon Kim ◽  
...  
Keyword(s):  
Mouse Model ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Motor Impairment ◽  
Spinal Muscular Atrophy Type ◽  
Type V

scholarly journals Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2003 ◽  
Vol 72 (5) ◽  
pp. 1293-1299 ◽  
Author(s):  
Anthony Antonellis ◽  
Rachel E. Ellsworth ◽  
Nyamkhishig Sambuughin ◽  
Imke Puls ◽  
Annette Abel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type V ◽  
Tooth Disease

Long‐term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1

2021 ◽  
Author(s):  
Giorgia Bruno ◽  
Bernadette Donnarumma ◽  
Alessia Inverardi ◽  
Paolo Buonpensiero ◽  
Angela Sepe ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type
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