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Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Chen, Wu; Cai, Zhao-Lin; Chao, Eugene S; Chen, Hongmei; Longley, Colleen M; Hao, Shuang; Chao, Hsiao-Tuan; Kim, Joo Hyun; Messier, Jessica E; Zoghbi, Huda Y; Tang, Jianrong; Swann, John W; Xue, Mingshan.
Afiliación
  • Chen W; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
  • Cai ZL; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Chao ES; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
  • Chen H; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Longley CM; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
  • Hao S; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Chao HT; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
  • Kim JH; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Messier JE; The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Zoghbi HY; Program in Developmental Biology, Baylor College of Medicine, Houston, United States.
  • Tang J; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, United States.
  • Swann JW; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
  • Xue M; Department of Neuroscience, Baylor College of Medicine, Houston, United States.
Elife ; 92020 02 19.
Article en En | MEDLINE | ID: mdl-32073399
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Munc18 / Haploinsuficiencia Límite: Animals / Humans Idioma: En Revista: Elife Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Munc18 / Haploinsuficiencia Límite: Animals / Humans Idioma: En Revista: Elife Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos