Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Hisaund M"'
Autor:
Proudlock FA; Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK., Hisaund M; Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK., Papageorgiou E; General University Hospital of Larissa, Larissa, Greece., Manouchehrinia A; The Karolinska Neuroimmunology and Multiple Sclerosis Centre, Department of Clinical Neurosciences, Karolinska University Hospital, Stockholm, Sweden., Gottlob I; Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK; Department of Neurology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ 08103, USA. Electronic address: ig15@le.ac.uk.
Publikováno v:
Lancet (London, England) [Lancet] 2024 Dec 14; Vol. 404 (10470), pp. 2421-2422.
Autor:
Proudlock FA; Ulverscroft Eye Unit, Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK., Hisaund M; Ulverscroft Eye Unit, Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK., Maconachie G; School of Allied Health Professions, Nursing and Midwifery, Faculty of Health, University of Sheffield, Sheffield, UK., Papageorgiou E; General University Hospital of Larissa, Larissa, Greece., Manouchehrinia A; Karolinska Neuroimmunology and Multiple Sclerosis Centre, Department of Clinical Neurosciences, Karolinska University Hospital, Stockholm, Sweden., Dahlmann-Noor A; NIHR Moorfields Biomedical Research Centre, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Institute of Ophthalmology, University College London, London, UK., Khandelwal P; Children's Community Eye Service, Cambridgeshire Community Services NHS Trust, Bedford, UK., Self J; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Beisse C; Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany., Gottlob I; Ulverscroft Eye Unit, Department of Psychology and Vision Sciences, University of Leicester, Leicester, UK; Department of Neurology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA. Electronic address: ig15@le.ac.uk.
Publikováno v:
Lancet (London, England) [Lancet] 2024 May 04; Vol. 403 (10438), pp. 1766-1778.
Autor:
Thomas, M.G., Maconachie, G.D.E., Kuht, H.J., Chan, W.-M., Sheth, V., Hisaund, M., McLean, R.J., Barry, B., Al-Diri, B., Proudlock, F.A., Tu, Z., Engle, E.C., Gottlob, I.
Publikováno v:
International Journal of Molecular Sciences
Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from het
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::cf0abb8d4c0786e19624f4b3cb355021
https://eprints.whiterose.ac.uk/172248/1/ijms-22-02575-v2.pdf
https://eprints.whiterose.ac.uk/172248/1/ijms-22-02575-v2.pdf
Autor:
Kuht, H.J., Han, J., Maconachie, G.D.E., Park, S.E., Lee, S.-T., McLean, R., Sheth, V., Hisaund, M., Dawar, B., Sylvius, N., Mahmood, U., Proudlock, F.A., Gottlob, I., Lim, H.T., Thomas, M.G.
Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6ab39fe4593e9c9cde228361fed53710
Autor:
Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom; Foveal Development Investigators Group., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Foveal Development Investigators Group., Kessel L; Department of Ophthalmology, Rigshospitalet, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Foveal Development Investigators Group., van Genderen MM; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands; Foveal Development Investigators Group., McLean RJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Tu Z; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Hertle RW; Department of Ophthalmology, The Rebecca D. Considine Research Institute and The Children's Vision Center, Akron Children's Hospital, Akron, Ohio; Department of Surgery, The Northeastern Ohio Medical University, Rootstown, Ohio; Foveal Development Investigators Group., Gronskov K; Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Glostrup, Denmark; Foveal Development Investigators Group., Bai D; Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Wei A; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Li W; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Rare Disease Center, National Center for Children's Health; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China; Foveal Development Investigators Group., Jiao Y; Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China; Foveal Development Investigators Group., Smirnov V; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; Foveal Development Investigators Group., Choi JH; Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea; Foveal Development Investigators Group., Tobin MD; Department of Health Sciences, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group., Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom., Purohit R; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Dawar B; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Girach A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Strul S; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group., May L; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota; Foveal Development Investigators Group., Chen FK; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group., Heath Jeffery RC; Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia; Foveal Development Investigators Group., Aamir A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Sano R; Retina and Vitreous Sector of Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil; Foveal Development Investigators Group., Jin J; Sidney Kimmel Medical College of Thomas Jefferson University, Nemours Children's Health, Philadelphia, Pennsylvania; Nemours Children's Health, Wilmington, Delaware., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; Foveal Development Investigators Group., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, Tübingen, Germany; Foveal Development Investigators Group., Arveiler B; Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France; Foveal Development Investigators Group., Montoliu L; National Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCIII, Madrid, Spain; Foveal Development Investigators Group., Engle EC; Departments of Neurology and Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland; Foveal Development Investigators Group., Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom., Nishad G; International Institute of Information Technology, Hyderabad, India., Pani P; International Institute of Information Technology, Hyderabad, India., Varma G; International Institute of Information Technology, Hyderabad, India; Foveal Development Investigators Group., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group; Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group. Electronic address: mt350@le.ac.uk.
Publikováno v:
Ophthalmology [Ophthalmology] 2022 Jun; Vol. 129 (6), pp. 708-718. Date of Electronic Publication: 2022 Feb 11.
Autor:
Kuht HJ; Department of Neuroscience, Psychology and Behaviour (HJK, MH, GDEM, MGT), The University of Leicester Ulverscroft Eye Unit, University of Leicester, RKCSB, Leicester, United Kingdom ; Market Rasen Surgery (KAT), Lincolnshire, United Kingdom ; and Division of Ophthalmology and Orthoptics (GDEM), University of Sheffield, Sheffield, United Kingdom ., Thomas KA, Hisaund M, Maconachie GDE, Thomas MG
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2021 Sep 01; Vol. 41 (3), pp. e293-e296.
Autor:
Rufai SR; University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK.; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK.; Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK., Hisaund M; University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK., Jeelani NUO; UCL Great Ormond Street Institute of Child Health and Craniofacial Unit, Great Ormond Street Hospital for Children, London, UK., McLean RJ; University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK rjm19@leicester.ac.uk.
Publikováno v:
BMJ open [BMJ Open] 2021 Aug 11; Vol. 11 (8), pp. e046935. Date of Electronic Publication: 2021 Aug 11.
Autor:
Proudlock, Frank Antony1 (AUTHOR), Gottlob, Irene1,2 (AUTHOR) ig15@le.ac.uk
Publikováno v:
Clinical & Translational Medicine. Dec2024, Vol. 14 Issue 12, p1-4. 4p.
Autor:
Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.; Division of Ophthalmology & Orthoptics, Health Sciences School, University of Sheffield, Sheffield S10 2TN, UK., Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Chan WM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, MD 20815, USA., Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., McLean RJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Barry B; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, MD 20815, USA., Al-Diri B; Brayford Pool Campus, School of Computer Science, University of Lincoln, Lincoln LN6 7TS, UK., Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Tu Z; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK., Engle EC; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, MD 20815, USA.; Departments of Neurology and Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Departments of Neurology and Ophthalmology, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester LE2 7LX, UK.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 04; Vol. 22 (5). Date of Electronic Publication: 2021 Mar 04.
Autor:
Aamir A; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., McLean RJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Dawar B; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Purohit R; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Sylvius N; NUCLEUS Genomics, Core Biotechnology Services, University of Leicester, Leicester, LE1 9HN, UK., Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Zubcov-Iwantscheff A; Practice for Ophthalmology, Ginnheimer Hohl 6, 60431, Frankfurt, Germany., Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK. ig15@le.ac.uk., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, P.O. Box 65, Leicester, LE2 7LX, UK. mt350@le.ac.uk.
Publikováno v:
Scientific reports [Sci Rep] 2021 Feb 02; Vol. 11 (1), pp. 2826. Date of Electronic Publication: 2021 Feb 02.