دورية أكاديمية
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
| العنوان: | Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder. |
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| المؤلفون: | Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain., Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt., Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany., Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA., Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK., Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia., AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany., Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. |
| المصدر: | Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. e85. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Comment |
| اللغة: | English |
| بيانات الدورية: | 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 |
| أسماء مطبوعة: | Publication: Oxford : Oxford University Press Original Publication: London. |
| مواضيع طبية MeSH: | Brain Diseases*, Humans ; Mutation/genetics ; Phenotype |
| التعليقات: | Comment on: Brain. 2020 Oct 1;143(10):2911-2928. (PMID: 33103737) |
| References: | J Neurosci. 2012 Oct 10;32(41):14227-41. (PMID: 23055492) Brain. 2020 Oct 1;143(10):2911-2928. (PMID: 33103737) Brain. 2021 Apr 12;144(3):769-780. (PMID: 33764426) Traffic. 2015 Sep;16(9):978-93. (PMID: 26077767) Genet Med. 2021 Nov;23(11):2122-2137. (PMID: 34345025) J Biol Chem. 2019 May 3;294(18):7308-7323. (PMID: 30877195) Acta Neuropathol. 2020 Apr;139(4):791-794. (PMID: 32006098) |
| تواريخ الأحداث: | Date Created: 20210810 Date Completed: 20211210 Latest Revision: 20231108 |
| رمز التحديث: | 20231108 |
| مُعرف محوري في PubMed: | PMC8634087 |
| DOI: | 10.1093/brain/awab297 |
| PMID: | 34373908 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2156 |
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| DOI: | 10.1093/brain/awab297 |