Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakn...

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Bibliografiske detaljer
Udgivet i:Brain
Main Authors: Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzalez, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., North, Kathryn N.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4306822/
https://ncbi.nlm.nih.gov/pubmed/25497877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu356
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