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. 2015 Jun;14(3):378-81.
doi: 10.1007/s12311-014-0643-7.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Conceição Bettencourt  1 , Justo García de Yébenes, José Luis López-Sendón, Orr Shomroni, Xingqian Zhang, Shu-Bing Qian, Ingrid M C Bakker, Sasja Heetveld, Raquel Ros, Beatriz Quintáns, María-Jesús Sobrido, Marianna R Bevova, Shushant Jain, Marianna Bugiani, Peter Heutink, Patrizia Rizzu
Affiliations

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Conceição Bettencourt et al. Cerebellum. 2015 Jun.
No abstract available

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References

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    1. Orphanet J Rare Dis. 2014 Apr 17;9:57 - PubMed
    1. Neurology. 2014 May 13;82(19):1749-50 - PubMed
    1. Hum Mutat. 2012 Sep;33(9):1324-32 - PubMed

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