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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) : Report of a Spanish case with extended clinicopathological follow-up
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia....
Autores principales: | San Millan, Beatriz, Fernandez, Jose M., Navarro, Carmen, Reparaz, Alfredo, Teijeira, Susana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dustri-Verlag Dr. Karl Feistle
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806405/ https://www.ncbi.nlm.nih.gov/pubmed/26709713 http://dx.doi.org/10.5414/NP300902 |
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