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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Dades bibliogràfiques
Publicat a:Brain
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2015
Matèries:
Original Articles
Accés en línia: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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