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The third edition of the RE(ACT) Congress -– International Congress on Research of Rare and Orphan Diseases, organized by the BLACKSWAN Foundation (http://www.blackswanfoundation.ch/en/) in collaboration with E-Rare (http://www.erare.eu/) has been held at the Crowne Plaza in Barcelona, from 9th to

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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard et al, Dev Med Child Neurol. 2015

Dev Med Child Neurol. 2015 Sep 23. doi: 10.1111/dmcn.12927. [Epub ahead of print] Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F ATP1A3, the gene

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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. By Jacobi et al, Lancet Neurol 2015

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