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Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Ponger, Penina; Kurolap, Alina; Lerer, Israela; Dagan, Judith; Chai Gadot, Chofit; Mory, Adi; Wilnai, Yael; Oniashvili, Nino; Giladi, Nir; Gurevich, Tanya; Meiner, Vardiella; Lossos, Alexander; Baris Feldman, Hagit.
Afiliación
  • Ponger P; Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel. peninap@tlvmc.gov.il.
  • Kurolap A; The Genetics Institute and Genomics Center, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel. peninap@tlvmc.gov.il.
  • Lerer I; The Genetics Institute and Genomics Center, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Dagan J; Department of Genetics, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
  • Chai Gadot C; Department of Genetics, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.
  • Mory A; The Genetics Institute and Genomics Center, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Wilnai Y; The Genetics Institute and Genomics Center, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Oniashvili N; The Genetics Institute and Genomics Center, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Giladi N; Cytogenetic Laboratory, Oncology Department, Schneider Children's Medical Center in Israel, Petah Tikva, Israel.
  • Gurevich T; Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Meiner V; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Lossos A; Movement Disorders Unit, Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Baris Feldman H; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
J Mol Neurosci ; 72(8): 1715-1723, 2022 Aug.
Article en En | MEDLINE | ID: mdl-35676594
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Apraxias / Venenos Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans País/Región como asunto: Asia Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Apraxias / Venenos Tipo de estudio: Diagnostic_studies Límite: Adolescent / Humans País/Región como asunto: Asia Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos