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Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

Spinal muscular atrophy (SMA) is a genetic neurological disease that causes infant mortality; no effective therapies are currently available. SMA is due to homozygous mutations and/or deletions in the survival motor neuron 1 gene and subsequent reduction of the SMN protein, leading to the death of m...

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Dettagli Bibliografici
Pubblicato in:Cell Mol Life Sci
Autori principali: Simone, Chiara, Ramirez, Agnese, Bucchia, Monica, Rinchetti, Paola, Rideout, Hardy, Papadimitriou, Dimitra, Re, Diane B., Corti, Stefania
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4756905/
https://ncbi.nlm.nih.gov/pubmed/26681261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-015-2106-9
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