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Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Conant, Alexander; Curiel, Julian; Pizzino, Amy; Sabetrasekh, Parisa; Murphy, Jennifer; Bloom, Miriam; Evans, Sarah H; Helman, Guy; Taft, Ryan J; Simons, Cas; Whitehead, Matthew T; Moore, Steven A; Vanderver, Adeline.
Affiliation
  • Conant A; 1 Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Curiel J; 2 Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pizzino A; 1 Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Sabetrasekh P; 1 Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Murphy J; 3 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Bloom M; 4 Department of Pediatric Hospitalist Medicine, Children's National Health System, Washington, DC, USA.
  • Evans SH; 5 Department of Physical Medicine and Rehabilitation, Children's National Health System, Washington, DC, USA.
  • Helman G; 1 Department of Neurology, Children's National Health System, Washington, DC, USA.
  • Taft RJ; 6 Center for Genetic Medicine, Children's National Health System, Washington DC, USA.
  • Simons C; 7 Murdoch Children's Research Institute, Parkville, Melbourne, Australia.
  • Whitehead MT; 8 Illumina, San Diego, CA, USA.
  • Moore SA; 9 Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.
  • Vanderver A; 7 Murdoch Children's Research Institute, Parkville, Melbourne, Australia.
J Child Neurol ; 33(10): 642-650, 2018 09.
Article in En | MEDLINE | ID: mdl-29882456
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Ranvier's Nodes / Axons / Cell Adhesion Molecules, Neuronal / Demyelinating Diseases / Mutation Type of study: Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Ranvier's Nodes / Axons / Cell Adhesion Molecules, Neuronal / Demyelinating Diseases / Mutation Type of study: Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos