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pro vyhledávání: '"Vidal-Santacana, Mariona"'
Autor:
Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Genomics England Research Consortium, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b46fdc600ad4c435bc6b53b70ed9835
Akademický článek
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Akademický článek
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Autor:
Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Bertacchi M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Tocco C; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Kim US; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Kim's Eye Hospital, Seoul, South Korea., Kruszewski AM; Department of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Avery RA; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Ahn SJ; Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Pontikos N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Acheson J; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK., Davagnanam I; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Brain Repair & Rehabilitation, UCL Queen Square Institute of Neurology, London, UK., Bowman R; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kaliakatsos M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Wolfson Neurodisability Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Reddy MA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Royal London Hospital, Barts Health NHS Trust, London, UK., Clark E; Department of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Amati-Bonneau P; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.; Genetics and Immuno-cell Therapy Team, Mohammed First University, Oujda, Morocco., Charif M; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; National Center for Rare Diseases, Inherited Sensory Disorders, Gui de Chauliac Hospital, Montpellier, France., Lenaers G; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France., Meunier I; Institut des Neurosciences de Montpellier, INSERM INSERM U1051, Université de Montpellier, Montpellier, France., Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France., Vincent-Delorme C; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France., Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Holder GE; Institute of Ophthalmology, University College London, London, UK.; Yong Loo Lin School of Medicine, Department of Ophthalmology, National University of Singapore, Singapore, Singapore., Jeanjean L; Department of Ophthalmology, University Hospital of Nimes, Nimes, France., Martinez-Monseny A; Genetic and Molecular Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain., Vidal-Santacana M; Department of Ophthalmology, Hospital Sant Joan de Déu, Barcelona, Spain., Dominici C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France., Gaggioli C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France., Giordano N; Neuroscience Institute-CNR, Pisa, Italy., Caleo M; Neuroscience Institute-CNR, Pisa, Italy., Liu GT; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA., Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Studer M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Publikováno v:
Brain communications [Brain Commun] 2021 Jul 20; Vol. 3 (3), pp. fcab162. Date of Electronic Publication: 2021 Jul 20 (Print Publication: 2021).
Autor:
Rodà D; Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana., Fons-Estupiña MC, Vidal-Santacana M
Publikováno v:
Revista de neurologia [Rev Neurol] 2014 Jul 16; Vol. 59 (2), pp. 93-6.