Cargando…
Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site
The MAG gene encodes myelin‐associated glycoprotein (MAG), an abundant protein involved in axon–glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus–Merzbacher disease and demyelinating leukodystrop...
Autores principales: | Roda, Ricardo H., FitzGibbon, Edmond J., Boucekkine, Houda, Schindler, Alice B., Blackstone, Craig |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999596/ https://www.ncbi.nlm.nih.gov/pubmed/27606346 http://dx.doi.org/10.1002/acn3.329 |
Ejemplares similares
-
Multigeneration family with dominant SPG30 hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017) -
De novo REEP2 missense mutation in pure hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017) -
Sialic Acid Is Required for Neuronal Inhibition by Soluble MAG but not for Membrane Bound MAG
por: Al-Bashir, Najat, et al.
Publicado: (2016) -
The Saccadic and Neurological Deficits in Type 3 Gaucher Disease
por: Benko, William, et al.
Publicado: (2011) -
Laing distal myopathy pathologically resembling inclusion body myositis
por: Roda, Ricardo H, et al.
Publicado: (2014)