Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Janik Laframboise"'
Autor:
Janik Laframboise, Gabriel Sanchez, Janie Timbers, Hector Valderrama-Carvajal, Jocelyn Côté, Lisa Hubers
Publikováno v:
Human Molecular Genetics. 20:553-579
Spinal muscular atrophy is an autosomal-recessive neuromuscular disease caused by disruption of the survival of motor neuron (SMN) gene, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SMN re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94093c8697145d7b4f3414cbb3bef11
https://doi.org/10.1093/hmg/ddq500
https://doi.org/10.1093/hmg/ddq500
Autor:
Emma Bondy-Chorney, Andréanne Didillon, Gabriel Sanchez, Jocelyn Côté, Bernard J. Jasmin, Geneviève Paris, Janik Laframboise
Publikováno v:
Nucleic Acids Research
Loss of 'Survival of Motor Neurons' (SMN) leads to spinal muscular atrophy (SMA), a disease characterized by degeneration of spinal cord alpha motor neurons, resulting in muscle weakness, paralysis and death during early childhood. SMN is required fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bab3f1b106cf2aadffcafc67fa853b
https://pubmed.ncbi.nlm.nih.gov/26656492
https://pubmed.ncbi.nlm.nih.gov/26656492