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DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.
Kolnikova, Miriam; Skopkova, Martina; Ilencikova, Denisa; Foltan, Tomas; Payerova, Jaroslava; Danis, Daniel; Klimes, Iwar; Stanik, Juraj; Gasperikova, Daniela.
Afiliação
  • Kolnikova M; Department of Pediatric Neurology, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
  • Skopkova M; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Ilencikova D; Department of Pediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
  • Foltan T; Department of Pediatric Neurology, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
  • Payerova J; Department of Pediatric Neurology, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
  • Danis D; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Klimes I; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Stanik J; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Department of Pediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
  • Gasperikova D; Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: daniela.gasperikova@savba.sk.
Seizure ; 56: 31-33, 2018 03.
Article em En | MEDLINE | ID: mdl-29427836
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Mutagênese Insercional / Dinamina I Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Mutagênese Insercional / Dinamina I Idioma: En Ano de publicação: 2018 Tipo de documento: Article