Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A.
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J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8.
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PMID: 15742102