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New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G L; Keramidas, Angelo; Cushion, Thomas D; Thomas, Rhys H; Pickrell, William O; Drew, Cheney J G; Masri, Amira; Jones, Elizabeth A; Vassallo, Grace; Born, Alfred P; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E; Afawi, Zaid; Berkovic, Samuel F; Howell, Owain W; Vanbellinghen, Jean-François; Rees, Mark I; Chung, Seo-Kyung; Lynch, Joseph W.
Afiliação
  • Bode A; University of Queensland, Queensland Brain Institute and School of Biomedical Sciences, Queensland 4072, Australia.
  • Wood SE; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Mullins JGL; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Keramidas A; University of Queensland, Queensland Brain Institute and School of Biomedical Sciences, Queensland 4072, Australia.
  • Cushion TD; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Thomas RH; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Pickrell WO; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Drew CJG; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Masri A; Department of Paediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman 11942, Jordan.
  • Jones EA; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Hum
  • Vassallo G; Royal Manchester Children's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom.
  • Born AP; Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Alehan F; Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, Basskent University, 06990 Ankara, Turkey.
  • Aharoni S; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva 49202, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69987, Israel.
  • Bannasch G; Neurology Department, Affinity Medical Group, Menasha, Wisconsin 54952.
  • Bartsch M; Department of Neonatology, University Medical Center of the Johannes Gutenberg University Mainz, D-55099 Mainz, Germany.
  • Kara B; Kocaeli University Medical Faculty, Department of Pediatrics, Division of Child Neurology, 41380 Kocaeli, Turkey.
  • Krause A; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, 2000 Johannesburg, South Africa.
  • Karam EG; Department of Psychiatry and Clinical Psychology, Saint George Hospital University Medical Center, Balamand University, Faculty of Medicine, Beirut 1100 2807, Lebanon.
  • Matta S; Department of Psychiatry and Clinical Psychology, Saint George Hospital University Medical Center, Balamand University, Faculty of Medicine, Beirut 1100 2807, Lebanon.
  • Jain V; Royal Children's Hospital Melbourne, Children's Neuroscience Centre, Royal Children's Hospital, Victoria 3052, Australia.
  • Mandel H; Metabolic Unit, Meyer Children's Hospital, Rambam Medical Center, Technion Faculty of Medicine, Haifa 31096, Israel.
  • Freilinger M; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
  • Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario K1H 8L1, Canada.
  • Hobson E; Yorkshire Regional Genetic Service, Chapel Allerton Hospital, Leeds, West Yorkshire LS9 7TF, United Kingdom.
  • Chatfield S; Neonatal Unit, Bradford Royal Infirmary, Bradford, West Yorkshire BD9 6RJ, United Kingdom.
  • Vincent-Delorme C; Génétique, Pôle Mère, Enfant, Centre Hospitalier d'Arras, 62 000 Arras, France.
  • Rahme JE; Clalit Health Services, Shfaram 20200, Israel.
  • Afawi Z; Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer-Sheva 8410501, Israel.
  • Berkovic SF; Epilepsy Research Centre, Melbourne Brain Centre, Austin Health, Heidelberg 3084, Victoria, Australia.
  • Howell OW; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Vanbellinghen JF; Institut de Pathologie et de Génétique ASBL/IRSPG, B-6041 Gosselies, Belgium.
  • Rees MI; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Chung SK; Department of Neurology Research and Molecular Neuroscience, Institute of Life Science, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom; Wales Epilepsy Research Network, College of Medicine, Swansea University Swansea SA2 8PP, United Kingdom.
  • Lynch JW; University of Queensland, Queensland Brain Institute and School of Biomedical Sciences, Queensland 4072, Australia. Electronic address: j.lynch@uq.edu.au.
J Biol Chem ; 288(47): 33745-33759, 2013 Nov 22.
Article em En | MEDLINE | ID: mdl-24108130
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Receptores de Glicina / Mutação de Sentido Incorreto / Rigidez Muscular Tipo de estudo: Clinical_trials Limite: Female / Humans / Male Idioma: En Revista: J Biol Chem Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Austrália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Receptores de Glicina / Mutação de Sentido Incorreto / Rigidez Muscular Tipo de estudo: Clinical_trials Limite: Female / Humans / Male Idioma: En Revista: J Biol Chem Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Austrália