publicações selecionadas
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artigo académico
- Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. Brain. 2015
- Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.. JIMD reports. 2012
- Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.. Clinical Genetics. 2011