Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
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| Title: | Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders. |
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| Authors: | 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. |
| Source: | Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 2085-2097. |
| Publication Type: | Journal Article; Systematic Review |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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