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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....

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Detalles Bibliográficos
Autores principales: San Millan, Beatriz, Fernandez, Jose M., Navarro, Carmen, Reparaz, Alfredo, Teijeira, Susana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2016
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