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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame, Daniel G; Moreno Vadillo, Cristina; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel I; Torres, Rosa J; Prior, Carmen; Gómez-González, Clara; Biskup, Saskia; Lupski, James R; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T.
Afiliación
  • Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Moreno Vadillo C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Berger S; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lotze T; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Shinawi M; Children's National Rare Disease Institute, Children's National Hospital, Washington, DC 20012, USA.
  • Poupak J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Heller C; Texas Children's Hospital, Houston, TX 77030, USA.
  • Cohen J; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Person R; Zentrum Für Labormedizin, St. Gallen 9001, Switzerland.
  • Telegrafi A; Praxis Für Humangenetik Tübingen, Tuebingen 72076, Germany.
  • Phitsanuwong C; CeGaT GmbH, Tuebingen 72076, Germany.
  • Fiala K; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Thiffault I; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Del Viso F; GeneDX, Gaithersburg, MD 20879, USA.
  • Zhou D; GeneDX, Gaithersburg, MD 20879, USA.
  • Fleming EA; Section of Pediatric Neurology, Department of Pediatrics, Comer Children's Hospital, University of Chicago, Chicago, IL 60637, USA.
  • Pastinen T; Section of Pediatric Neurology, Department of Pediatrics, Comer Children's Hospital, University of Chicago, Chicago, IL 60637, USA.
  • Fatemi A; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.
  • Thomas S; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Pascual SI; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Torres RJ; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.
  • Prior C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Gómez-González C; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Biskup S; Department of Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Lupski JR; Department of Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
  • Maric D; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.
  • Holmgren M; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.
  • Regier D; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Yano ST; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Brain ; 146(8): 3162-3171, 2023 08 01.
Article en En | MEDLINE | ID: mdl-37043503
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Discapacidad Intelectual Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Discapacidad Intelectual Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Brain Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos