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Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons, Cas; Griffin, Laurie B; Helman, Guy; Golas, Gretchen; Pizzino, Amy; Bloom, Miriam; Murphy, Jennifer L P; Crawford, Joanna; Evans, Sarah H; Topper, Scott; Whitehead, Matthew T; Schreiber, John M; Chapman, Kimberly A; Tifft, Cyndi; Lu, Katrina B; Gamper, Howard; Shigematsu, Megumi; Taft, Ryan J; Antonellis, Anthony; Hou, Ya-Ming; Vanderver, Adeline.
  • Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
  • Griffin LB; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Helman G; Department of Neurology, Children's National Health System, Washington, DC 20010, USA.
  • Golas G; Undiagnosed Diseases Program, NIH, National Human Genome Research Institute, Bethesda, MD 20894, USA.
  • Pizzino A; Department of Neurology, Children's National Health System, Washington, DC 20010, USA.
  • Bloom M; Department of Hospitalist Medicine, Children's National Health System, Washington, DC 20010, USA.
  • Murphy JL; Department of Neurology, Children's National Health System, Washington, DC 20010, USA.
  • Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.
  • Evans SH; Department of Physical Medicine and Rehabilitation, Children's National Health System, Washington, DC 20010, USA.
  • Topper S; Invitae, San Francisco, CA 94107, USA.
  • Whitehead MT; Department of Neuroradiology, Children's National Health System, Washington, DC 20010, USA.
  • Schreiber JM; Department of Neurology, Children's National Health System, Washington, DC 20010, USA.
  • Chapman KA; Department of Genetics, Children's National Health System, Washington, DC 20010, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA.
  • Tifft C; Undiagnosed Diseases Program, NIH, National Human Genome Research Institute, Bethesda, MD 20894, USA.
  • Lu KB; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Gamper H; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Shigematsu M; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Taft RJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia; Illumina, Inc., San Diego, CA 92122, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA.
  • Antonellis A; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Hou YM; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Vanderver A; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washingt
Am J Hum Genet ; 96(4): 675-81, 2015 Apr 02.
Article en En | MEDLINE | ID: mdl-25817015
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Modelos Moleculares / Enfermedades del Sistema Nervioso Periférico / Alanina-ARNt Ligasa / Epilepsia / Vaina de Mielina Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Newborn País como asunto: America do norte Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Modelos Moleculares / Enfermedades del Sistema Nervioso Periférico / Alanina-ARNt Ligasa / Epilepsia / Vaina de Mielina Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans / Infant / Newborn País como asunto: America do norte Idioma: En Año: 2015 Tipo del documento: Article