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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

Autor: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Abdel-Hamid M; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Safwat S; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA., Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boys Town National Research Hospital, Boys Town, NE, USA., Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA.; The University of Kansas Health System, Westwood, KS, USA., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom., Firoozfar Z; Palindrome, Isfahan, Iran., Nasab ME; Meybod Genetic Research Center, Yazd, Iran.; Yazd Welfare Organization, Yazd, Iran., Bahreini A; KaryoGen, Isfahan, Iran.; Department of Human Genetics, University of Pittsburgh, PA, USA., Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt., Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace London, London, UK., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Kerby C Oberg; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdalla E; Department of Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, NY, USA., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Maroofian R; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456.; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545.; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 13. Date of Electronic Publication: 2024 Feb 13.