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RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Nishri, Daniella; Goldberg-Stern, Hadassa; Noyman, Iris; Blumkin, Lubov; Kivity, Sara; Saitsu, Hirotomo; Nakashima, Mitsuko; Matsumoto, Naomichi; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Lev, Dorit.
Affiliation
  • Nishri D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Child Development Center, Central District, Maccabi Health Services, Tel Aviv, Israel.
  • Goldberg-Stern H; Epilepsy Center, Schneider's Children Medical Center, Petah Tiqwa, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Noyman I; Pediatric Neurology Unit, Soroka Medical Center, Beer-Sheba, Israel.
  • Blumkin L; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Kivity S; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Epilepsy Center, Schneider's Children Medical Center, Petah Tiqwa, Israel.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Leshinsky-Silver E; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Lerman-Sagie T; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Lev D; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: dorlev@post.tau.ac.il.
Eur J Paediatr Neurol ; 20(3): 412-7, 2016 May.
Article in En | MEDLINE | ID: mdl-26970947
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arginine-tRNA Ligase / Epilepsy Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2016 Document type: Article Affiliation country: Israel Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arginine-tRNA Ligase / Epilepsy Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2016 Document type: Article Affiliation country: Israel Country of publication: Reino Unido