Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Filiaciones

Kaminska K:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Department of Ophthalmology, University of Basel, Basel, Switzerland

Moye AR:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Department of Ophthalmology, University of Basel, Basel, Switzerland

Quinodoz M:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Department of Ophthalmology, University of Basel, Basel, Switzerland

Division of Genetics and Genome Biology, School of Biological and Biomedical Sciences, University of Leicester, Leicester, UK

Zehr EA:

Cell Biology and Biophysics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA

Aiteur A:

Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland

Calzetti G:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Vista Vision Eye Clinic, Brescia, Italy

Department of Medicine and Surgery, University of Parma, Parma, Italy

Barberán-Martínez P:

Instituto de Investigación. Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain

Instituto de Investigación. Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, Valencia, Spain

Kuehlewein L:

Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

Bodenbender JP:

Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

Ehrenberg M:

Department of Ophthalmology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel

Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel

Khandhadia S:

Southampton Eye Unit, University Hospital Southampton, Southampton, UK

Zur D:

Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel

Division of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

Zayit-Soudry S:

Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel

Department of Ophthalmology, Rabin Medical Center, Petach Tikva, Israel

Barili V:

Department of Medicine and Surgery, University of Parma, Parma, Italy

Ambrosini E:

Medical Genetics, University Hospital of Parma, Parma, Italy

Ottonelli G:

Vista Vision Eye Clinic, Brescia, Italy

Feliciano-Sánchez A:

Department of Ophthalmology, La Fe University and Polytechnic Hospital, Valencia, Spain

Müller I:

Eye Clinic, Luzerner Kantonsspital (LUKS), Luzern, Switzerland

Wallerich S:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Galliker P:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Moulin AP:

Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland

Zuleger T:

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Haack TB:

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Centre for Rare Diseases, University of Tübingen, Tübingen, Germany

Wissinger B:

Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany

Stingl K:

Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany

García-García G:

Instituto de Investigación. Molecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain

Instituto de Investigación. Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, Valencia, Spain

Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Menghini M:

Ophthalmology Service, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland

Faculty of Biomedical Sciences, University of Southern Switzerland (USI), Lugano, Switzerland

Eye Clinic, Luzerner Kantonsspital (LUKS), Luzern, Switzerland

Vincent A:

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Héon E:

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada

Mahroo OA:

NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK

UCL Institute of Ophthalmology, University College London, London, UK

Department of Ophthalmology, St Thomas' Hospital, London, UK

Lotery AJ:

Southampton Eye Unit, University Hospital Southampton, Southampton, UK

Faculty of Medicine, University of Southampton, Southampton, UK

Webster AR:

NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK

UCL Institute of Ophthalmology, University College London, London, UK

Arno G:

NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK

UCL Institute of Ophthalmology, University College London, London, UK

Division of Research, Greenwood Genetic Center, Greenwood, SC, USA

Millán JM:

Molecular, Cellular, and Genomic Biomedicine Group, Valencia, Spain

Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Instituto de Investigación. Joint Unit CIPF-IIS La Fe Molecular, Cellular and Genomic Biomedicine, Valencia, Spain

University and Polytechnic La Fe Hospital of Valencia, Valencia, Spain

Ben-Yosef T:

The Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel

Michaelides M:

NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK

UCL Institute of Ophthalmology, University College London, London, UK

Lin S:

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK

Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK

NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK

Kohl S:

Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany

Roll-Mecak A:

Cell Biology and Biophysics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA

Biochemistry and Biophysics Center, National Heart, Lung and Blood Institute, Bethesda, MD, USA

Tran HV:

Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland

Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK

Rivolta C:

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

Department of Ophthalmology, University of Basel, Basel, Switzerland

Division of Genetics and Genome Biology, School of Biological and Biomedical Sciences, University of Leicester, Leicester, UK