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Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Simmons, Roxanne L; Li, Haiyan; Alten, Baris; Santos, Magda S; Jiang, Ruiji; Paul, Brianna; Lalani, Sanam J; Cortesi, Audrey; Parks, Kendall; Khandelwal, Nitin; Smith-Packard, Bethany; Phoong, Malay A; Chez, Michael; Fisher, Heather; Scheuerle, Angela E; Shinawi, Marwan; Hussain, Shaun A; Kavalali, Ege T; Sherr, Elliott H; Voglmaier, Susan M.
Afiliación
  • Simmons RL; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Li H; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Alten B; Department of Pharmacology and Vanderbilt Brain Institute, Vanderbilt University, Nashville, Tennessee, USA.
  • Santos MS; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Jiang R; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Paul B; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Lalani SJ; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Cortesi A; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Parks K; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Khandelwal N; Department of Neuroscience, UT Southwestern Medical Center, Dallas, Texas, USA.
  • Smith-Packard B; Department of Pediatrics, Penn State Health Pediatric Specialties, Hershey, Pennsylvania, USA.
  • Phoong MA; Division of Neuroscience, Department of Pediatric Neuropsychology, Sutter Medical Foundation, Sacramento, California, USA.
  • Chez M; Neuroscience Medical Group, Sutter Medical Foundation, Sacramento, California, USA.
  • Fisher H; Department of Genetics, Children's Medical Center of Texas, Dallas, Texas, USA.
  • Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA.
  • Shinawi M; Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Hussain SA; Department of Pediatrics, UCLA Mattel Children's Hospital and Geffen School of Medicine, Los Angeles, California, USA.
  • Kavalali ET; Department of Pharmacology and Vanderbilt Brain Institute, Vanderbilt University, Nashville, Tennessee, USA.
  • Sherr EH; Department of Neurology, Weill Institute for Neurosciences and Institute of Human Genetics, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Voglmaier SM; Department of Psychiatry, Weill Institute for Neurosciences and Kavli Institute for Fundamental Neuroscience, School of Medicine, University of California, San Francisco, San Francisco, California, USA.
Hum Mutat ; 41(11): 1999-2011, 2020 11.
Article en En | MEDLINE | ID: mdl-32906212

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: 4-Aminopiridina / Proteína 2 de Membrana Asociada a Vesículas / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: 4-Aminopiridina / Proteína 2 de Membrana Asociada a Vesículas / Mutación Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos