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Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher, Verena; Schicker, Klaus; Novikova, Elena; Pöhn, Birgit; Stockner, Thomas; Kugler, Christof; Singh, Anamika; Zeitz, Christina; Lancelot, Marie-Elise; Audo, Isabelle; Leroy, Bart Peter; Freissmuth, Michael; Herzig, Stefan; Matthes, Jan; Koschak, Alexandra.
Afiliação
  • Burtscher V; Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria.
  • Schicker K; Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria.
  • Novikova E; University of Cologne, Department of Pharmacology and Center of Molecular Medicine, 50931 Cologne, Germany.
  • Pöhn B; Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria.
  • Stockner T; Medical University Vienna, Center for Physiology and Pharmacology, Department of Pharmacology, Währingerstrasse 13A, 1090 Wien, Austria.
  • Kugler C; Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria.
  • Singh A; University of Innsbruck, Institute of Pharmacy, Pharmacology and Toxicology, Center for Chemistry and Biomedicine, Innrain 80-82/III, 6020 Innsbruck, Austria.
  • Zeitz C; INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France.
  • Lancelot ME; INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France.
  • Audo I; INSERM, UMR_S968, Paris F-75012, France; CNRS, UMR_7210, Paris F-75012, France; UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris F-75012, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris F-75012, France; UCL-Institute of Ophthalmology, 11-4
  • Leroy BP; Dept of Ophthalmology & Center for Medical Genetics, Ghent University Hospital & Ghent University, 9000 Ghent, Belgium.
  • Freissmuth M; Medical University Vienna, Center for Physiology and Pharmacology, Department of Pharmacology, Währingerstrasse 13A, 1090 Wien, Austria.
  • Herzig S; University of Cologne, Department of Pharmacology and Center of Molecular Medicine, 50931 Cologne, Germany.
  • Matthes J; University of Cologne, Department of Pharmacology and Center of Molecular Medicine, 50931 Cologne, Germany.
  • Koschak A; Medical University Vienna, Center for Physiology and Pharmacology, Department of Neurophysiology and -pharmacology, Schwarzspanierstrasse 17, 1090 Vienna, Austria. Electronic address: alexandra.koschak@meduniwien.ac.at.
Biochim Biophys Acta ; 1838(8): 2053-65, 2014 Aug.
Article em En | MEDLINE | ID: mdl-24796500
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cálcio / Cegueira Noturna / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Biochim Biophys Acta Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cálcio / Cegueira Noturna / Canais de Cálcio Tipo L / Doenças Genéticas Ligadas ao Cromossomo X / Mutação / Miopia Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: Biochim Biophys Acta Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Áustria