Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H Z; Heaton, Robert A; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B; Stingl, Katarina; Hoyng, Carel B; Mahroo, Omar A; Hargreaves, Iain; Raymond, F Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R; Arno, Gavin

Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H Z; Heaton, Robert A; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B; Stingl, Katarina; Hoyng, Carel B; Mahroo, Omar A; Hargreaves, Iain; Raymond, F Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R; Arno, Gavin.

Afiliação

Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK. n.jurkute@nhs.net.
Cancellieri F; Institute of Ophthalmology, University College London, London, UK. n.jurkute@nhs.net.
Pohl L; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Li CHZ; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Heaton RA; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.
Reurink J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Bellingham J; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
Quinodoz M; School of Pharmacy and Biomolecular Sciences, Liverpool John Moores, Liverpool, UK.
Yioti G; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Stefaniotou M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Weener M; Institute of Ophthalmology, University College London, London, UK.
Zuleger T; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Haack TB; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Stingl K; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Hoyng CB; University of Ioannina Medical School, Ioannina, Greece.
Mahroo OA; Oftalmic Clinical Research Organization, Moscow, Russia.
Hargreaves I; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Raymond FL; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Michaelides M; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Rivolta C; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.
Kohl S; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Webster AR; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Arno G; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.

NPJ Genom Med ; 7(1): 60, 2022 Oct 20.

Article em En | MEDLINE | ID: mdl-36266294

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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