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Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function
BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten’s disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously...
Autores principales: | Orlin, Anton, Sondhi, Dolan, Witmer, Matthew T., Wessel, Matthew M., Mezey, Jason G., Kaminsky, Stephen M., Hackett, Neil R., Yohay, Kaleb, Kosofsky, Barry, Souweidane, Mark M., Kaplitt, Michael G., D’Amico, Donald J., Crystal, Ronald G., Kiss, Szilárd |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756041/ https://www.ncbi.nlm.nih.gov/pubmed/24015292 http://dx.doi.org/10.1371/journal.pone.0073128 |
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