Your browser doesn't support javascript.
loading
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert, Tobias; Karle, Kathrin N; Tonagel, Felix; Batra, Marion; Wilhelm, Christian; Theurer, Yvonne; Schoenfeld, Caroline; Kluba, Torsten; Kamenisch, York; Carelli, Valerio; Wolf, Julia; Gonzalez, Michael A; Speziani, Fiorella; Schüle, Rebecca; Züchner, Stephan; Schöls, Ludger; Wissinger, Bernd; Synofzik, Matthis.
Afiliação
  • Bonifert T; 1 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Röntgenweg 11, 72076 Tübingen, Germany2 Graduate School of Cellular and Molecular Neuroscience, University of Tübingen, Österbergstrasse 3, 72074 Tübingen, Germany.
  • Karle KN; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Tonagel F; 5 University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Schleichstrasse 12, 72076 Tübingen, Germany.
  • Batra M; 6 Department of Neuroradiology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany.
  • Wilhelm C; 7 CeGaT GmbH, Centre for Genomics and Transcriptomics, Paul-Ehrlich-Str. 17, 72076 Tübingen, Germany.
  • Theurer Y; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Schoenfeld C; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Kluba T; 8 Department of Orthopaedic Surgery, University Hospital Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany.
  • Kamenisch Y; 9 Department of Dermatology, University Hospital Tübingen, Röntgenweg 13/1, 72076 Tübingen, Germany.
  • Carelli V; 10 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy11 Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Altura 3, 40139 Bologna, Italy.
  • Wolf J; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Gonzalez MA; 12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave, Miami, FL 33136, USA.
  • Speziani F; 12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave, Miami, FL 33136, USA.
  • Schüle R; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Züchner S; 12 Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave, Miami, FL 33136, USA.
  • Schöls L; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
  • Wissinger B; 1 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Röntgenweg 11, 72076 Tübingen, Germany wissinger@uni-tuebingen.de.
  • Synofzik M; 3 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Straße 3, 72076 Tübingen, Germany4 Centre for Neurodegenerative Diseases (DZNE), Helmholtz Association of German Research Centers, Otfried-Müller-Straße 27, 72076 Tübingen,
Brain ; 137(Pt 8): 2164-77, 2014 Aug.
Article em En | MEDLINE | ID: mdl-24970096
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases / Mutação Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases / Mutação Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha