Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal s...

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Bibliografiset tiedot
Päätekijät: Hammer, Monia B., Eleuch-Fayache, Ghada, Schottlaender, Lucia V., Nehdi, Houda, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Sailer, Anna, Liu, Guoxiang, Mistry, Pramod K., Cai, Huaibin, Shrader, Ginamarie, Sassi, Celeste, Bouhlal, Yosr, Houlden, Henry, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2013
Aiheet:
Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567281/
https://ncbi.nlm.nih.gov/pubmed/23332917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.012
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