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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel, Julian; Rodríguez Bey, Guillermo; Takanohashi, Asako; Bugiani, Marianna; Fu, Xiaoqin; Wolf, Nicole I; Nmezi, Bruce; Schiffmann, Raphael; Bugaighis, Mona; Pierson, Tyler; Helman, Guy; Simons, Cas; van der Knaap, Marjo S; Liu, Judy; Padiath, Quasar; Vanderver, Adeline.
Affiliation
  • Curiel J; Center for Neuroscience Research, Children's National Health System, Children's Research Institute, Washington, DC 20010, USA.
  • Rodríguez Bey G; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  • Takanohashi A; Center for Genetic Medicine Research, Children's National Health System, Children's Research Institute, Washington, DC 20010, USA.
  • Bugiani M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Fu X; VU University Medical Center, Amsterdam, The Netherlands.
  • Wolf NI; Center for Neuroscience Research, Children's National Health System, Children's Research Institute, Washington, DC 20010, USA.
  • Nmezi B; VU University Medical Center, Amsterdam, The Netherlands.
  • Schiffmann R; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  • Bugaighis M; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX 75204, USA.
  • Pierson T; Center for Neuroscience Research, Children's National Health System, Children's Research Institute, Washington, DC 20010, USA.
  • Helman G; Departments of Pediatrics and Neurology, Cedar Sinai Medical Center, Board of Governors Regenerative Medicine Institute, Los Angeles, CA 90048, USA.
  • Simons C; Center for Genetic Medicine Research, Children's National Health System, Children's Research Institute, Washington, DC 20010, USA.
  • van der Knaap MS; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
  • Liu J; Department of Neurology, Children's National Health System, Washington, DC 20010, USA.
  • Padiath Q; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
  • Vanderver A; VU University Medical Center, Amsterdam, The Netherlands.
Hum Mol Genet ; 26(22): 4506-4518, 2017 11 15.
Article in En | MEDLINE | ID: mdl-28973395
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Oligodendroglia / Neurons Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Oligodendroglia / Neurons Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2017 Type: Article Affiliation country: United States