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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang, Haicui; Salter, Claire G; Refai, Osama; Hardy, Holly; Barwick, Katy E S; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A; Abdul-Rahman, Omar A; Chilton, John; Blakely, Randy D; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew H.
Afiliação
  • Wang H; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany.
  • Salter CG; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
  • Refai O; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Hardy H; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.
  • Barwick KES; Department of Biomedical Science, Charles E. Schmidt College of Medicine and Brain Institute, Florida Atlantic University, Jupiter, FL, USA.
  • Akpulat U; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Kvarnung M; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Chioza BA; University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50937 Cologne, Germany.
  • Harlalka G; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
  • Taylan F; Kastamonu University, 37150 Kastamonu, Turkey.
  • Sejersen T; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Wright J; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Zimmerman HH; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Karakaya M; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Stüve B; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Weis J; Science for Life Laboratory, Karolinska Institutet Science Park, 17121 Stockholm, Sweden.
  • Schara U; Science for Life Laboratory, Karolinska Institutet Science Park, 17121 Stockholm, Sweden.
  • Russell MA; Department of Women's and Children's Health, Division of Pediatric Neurology, Karolinska Institutet, 17176 Stockholm, Sweden.
  • Abdul-Rahman OA; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA.
  • Chilton J; Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
  • Blakely RD; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
  • Baple EL; Children's Hospital Social Pediatric Center, 50735 Cologne, Germany.
  • Cirak S; Institute of Neuropathology and Jülich Aachen Research Alliance (JARA) Brain Translational Medicine, RWTH Aachen University, 52074 Aachen, Germany.
  • Crosby AH; University Children's Hospital Essen, Essen, Germany.
Brain ; 140(11): 2838-2850, 2017 Nov 01.
Article em En | MEDLINE | ID: mdl-29088354
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Mutação de Sentido Incorreto / Síndromes Miastênicas Congênitas / Simportadores / Transtornos do Neurodesenvolvimento Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Mutação de Sentido Incorreto / Síndromes Miastênicas Congênitas / Simportadores / Transtornos do Neurodesenvolvimento Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido