Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.

Autor: Bighinati A; University of Modena and Reggio Emilia, Department of Life Sciences, via G. Campi 287, 41125 Modena, Italy., D'Alessandro S; University of Modena and Reggio Emilia, Department of Life Sciences, via G. Campi 287, 41125 Modena, Italy., Felline A; University of Modena and Reggio Emilia, Department of Life Sciences, via G. Campi 287, 41125 Modena, Italy., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France., Bocquet B; INM, Univ Montpellier, INSERM, CHU Montpellier, 80 Av. Augustin Fliche, 34295 Montpellier, France., Casarini L; University of Modena and Reggio Emilia, Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, via P. Giardini, 1355, 41126 Baggiovara, Modena, Italy., Kalatzis V; INM, Univ Montpellier, INSERM, 80 rue Augustin Fliche, 34091 Montpellier, France., Meunier I; INM, Univ Montpellier, INSERM, CHU Montpellier, 80 Av. Augustin Fliche, 34295 Montpellier, France., Fanelli F; University of Modena and Reggio Emilia, Department of Life Sciences, via G. Campi 287, 41125 Modena, Italy. Electronic address: francesca.fanelli@unimore.it., Manes G; INM, Univ Montpellier, INSERM, 80 rue Augustin Fliche, 34091 Montpellier, France. Electronic address: gael.manes@inserm.fr., Marigo V; University of Modena and Reggio Emilia, Department of Life Sciences, via G. Campi 287, 41125 Modena, Italy. Electronic address: valeria.marigo@unimore.it.

Publikováno v: International journal of biological macromolecules [Int J Biol Macromol] 2024 Nov; Vol. 279 (Pt 2), pp. 135089. Date of Electronic Publication: 2024 Aug 26.

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator -Associated X-Linked Retinitis Pigmentosa.

Autor: MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Duncan JL; Department of Ophthalmology, University of California, San Francisco, California., Fischer MD; University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Lam BL; Bascom Palmer Eye Institute, University of Miami, Miami, Florida., Meunier I; National Reference Centre for Inherited Sensory Diseases, University Hospital of Montpellier, University of Montpellier, Montpellier, France., Pennesi ME; Paul H. Casey Ophthalmic Genetics Division, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon., Sankila EK; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Gow JA; Biogen Inc., Cambridge, Massachusetts., Li J; Biogen Inc., Cambridge, Massachusetts., Tsang SF; Biogen Inc., Cambridge, Massachusetts.

Publikováno v: Ophthalmology science [Ophthalmol Sci] 2024 Aug 13; Vol. 5 (1), pp. 100595. Date of Electronic Publication: 2024 Aug 13 (Print Publication: 2025).

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Autor: Igelman AD; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., White E; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Tayyib A; The Hospital for Sick Children, Toronto, Ontario, Canada., Everett L; Oregon Health & Science University, Portland, Oregon, USA., Vincent A; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada., Heon E; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada., Zeitz C; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France., Michaelides M; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College London, London, UK., Mahroo OA; Institute of Ophthalmology, University College London, London, UK.; Medical Retina Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Katta M; Moorfields Eye Hospital, London, UK., Webster A; Moorfields Eye Hospital, London, UK., Preising M; Ophthalmology, Justus-Liebig Universität, Giessen, Germany., Lorenz B; Ophthalmology, Justus-Liebig-University,Universitätsklinikum Gießen und Marburg GmbH, Giessen campus, Giessen, Germany., Khateb S; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Banin E; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Sharon D; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Luski S; Department of Ophthalmology, Hadassah Hebrew University Hospital, Jerusalem, Israel., Van Den Broeck F; Ghent University Department of Ophthalmology, Gent, Belgium., Leroy BP; Department of Ophthalmology and Ctr for Med Genetics, Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Walraedt S; Department of Ophthalmology, Ghent University, Gent, Belgium., Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Kuehlewein L; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Reith M; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Fulton A; Boston Children's Hospital, Boston, Massachusetts, USA., Raghuram A; Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Meunier I; Ophthalmology, Reference Centre for Genetic Sensory diseases, University Hospital Centre Montpellier, Montpellier, France., Dollfus H; Centre des affections rares en génétique ophtalmologique, CHU de Strasbourg, Strasbourg, France., Aleman TS; Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Bedoukian EC; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., O'Neil EC; Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krauss E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Vincent A; Ophthalmology, Auckland University, Auckland, New Zealand., Jordan C; Ophthalmology, Auckland University, Auckland, New Zealand., Iannaccone A; Duke University, Durham, North Carolina, USA.; Kittner Eye Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Cell and Gene Therapies, Ophthalmology, Astellas Pharma US, Northbrook, Illinois, USA., Sen P; Shri Bhagwan Mahavir Vitreoretinal services, Sankara Nethralaya, Chennai, Tamil Nadu, India., Sundaramurthy S; SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.; Department of Vitreo-Retinal Services, Medical Research Foundation, Chennai, Tamil Nadu, India., Nagasamy S; SN ONGC Department of Genetcis and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India., Balikova I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Casteels I; Ophthalmology, Leuven University, Leuven, Belgium., Borooah S; University of California San Diego, La Jolla, California, USA., Yassin S; University of California San Diego, La Jolla, California, USA., Nagiel A; USC Keck School of Medicine, Los Angeles, California, USA., Schwartz H; Children's Hospital Los Angeles, Los Angeles, California, USA., Zanlonghi X; Department of Ophthalmology, University Hospital Centre Rennes, Rennes, France., Gottlob I; Ophthalmology Group, University of Leicester, Leicester, Leics, UK., McLean RJ; Ulverscroft Eye Unit, University of Leicester, Leicester, UK., Munier FL; Ophthalmology, Jules Gonin Eye Hospital, Lausanne, Switzerland., Stephenson A; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Sisk R; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Koenekoop R; McGill Univ Health Centre, Montreal, Québec, Canada., Wilson LB; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Fredrick D; Department of Ophthalmology, Kaiser Permanente, Daly City, California, USA., Choi D; OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA., Yang P; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA., Pennesi ME; Oregon Health and Science University Casey Eye Institute, Portland, Oregon, USA pennesim@ohsu.edu.; Retina Foundation of the Southwest, Dallas, Texas, USA.

Publikováno v: The British journal of ophthalmology [Br J Ophthalmol] 2024 Jul 30. Date of Electronic Publication: 2024 Jul 30.

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Autor: Liu J; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., He Y; Fermentation Facility, Biochemistry and Biophysics Center, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA., Lwin C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Han M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Naik A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Bender C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Moore N; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Qian H; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zeng Y; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Dong L; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Liu P; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Lei J; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Haugen CJ; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Prasov L; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48105, USA., Shi R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 100730 Beijing, China., Dollfus H; Centre de référence pour les Affections Rares Ophtalmologiques CARGO, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg 67091, France., Aristodemou P; Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.; VRMCy Centre, Limassol 3025, Cyprus., Laich Y; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Németh AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, ACE Building, Nuffield Orthopaedic Centre, Oxford OX3 7HE, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Taylor J; Oxford Regional Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Downes S; Nuffield Department of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-512, Poland., Meunier I; National Referent Centre for Rare Sensory Diseases, Montpellier University Hospital, Montpellier University, Montpellier 34295, France., Strassberg M; Invitae Corporation, San Francisco, CA 94103, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Gao J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Shear MA; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Moore AT; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Duncan JL; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Menendez B; Department of Pediatrics, University of Illinois School of Medicine, Chicago, IL 60612, USA., Hull S; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Vincent AL; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Siskind CE; Neurology and Neurological Sciences, Stanford School of Medicine, Stanford, CA 94305, USA., Traboulsi EI; The Center for Genetic Eye Diseases, The Cleveland Clinic Eye Institute, Cleveland, OH 44106, USA., Blackstone C; Movement Disorders Division, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Sisk RA; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Miraldi Utz V; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Arno G; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Genetics and Center for Integrated Healthcare Research, Kaiser Permanente Hawaii Region, Honolulu, HI 98619, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 2085-2097.

Suivi d’une cohorte de patients diabétiques à risque podologique et étude de l’évolutivité de leur neuropathie

Autor: Maury, E., Blanco-Baillet, L., Meunier, I., Monoury, R., Lagasse, E., Domengé, F., Rigalleau, V., Gin, H.

Publikováno v: In Médecine des maladies métaboliques October 2015 9(6):614-618