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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens, L M; Michelucci, R; Gambardella, A; Andermann, F; Rubboli, G; Bayly, M A; Joensuu, T; Vears, D F; Franceschetti, S; Canafoglia, L; Wallace, R; Bassuk, A G; Power, D A; Tassinari, C A; Andermann, E; Lehesjoki, A E; Berkovic, S F.
Affiliation
  • Dibbens LM; Women's and Children's Hospital, North Adelaide, Australia.
Ann Neurol ; 66(4): 532-6, 2009 Oct.
Article in En | MEDLINE | ID: mdl-19847901
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myoclonic Epilepsies, Progressive / Renal Insufficiency / Lysosomal Membrane Proteins / Receptors, Scavenger / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2009 Document type: Article
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myoclonic Epilepsies, Progressive / Renal Insufficiency / Lysosomal Membrane Proteins / Receptors, Scavenger / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2009 Document type: Article