Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Author:

Charif Majida1,Nasca Alessia2,Thompson Kyle3,Gerber Sylvie4,Makowski Christine5,Mazaheri Neda67,Bris Céline1,Goudenège David1,Legati Andrea2,Maroofian Reza8,Shariati Gholamreza9,Lamantea Eleonora2,Hopton Sila3,Ardissone Anna10,Moroni Isabella10,Giannotta Melania11,Siegel Corinna12,Strom Tim M.1213,Prokisch Holger1213,Vignal-Clermont Catherine14,Derrien Sabine14,Zanlonghi Xavier15,Kaplan Josseline4,Hamel Christian P.16,Leruez Stephanie1,Procaccio Vincent1,Bonneau Dominique1,Reynier Pascal1,White Frances E.3,Hardy Steven A.3,Barbosa Inês A.17,Simpson Michael A.17,Vara Roshni18,Perdomo Trujillo Yaumara19,Galehdari Hamind7,Deshpande Charu20,Haack Tobias B.121321,Rozet Jean-Michel4,Taylor Robert W.3,Ghezzi Daniele2,Amati-Bonneau Patrizia1,Lenaers Guy1

Affiliation:

1. MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015–INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France

2. Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy

3. Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England

4. Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris, France

5. Department of Paediatrics, Technische Universität München, Munich, Germany

6. Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran

7. Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran

8. University of Exeter Medical School, Research, Innovation, Learning and Development, Wellcome Wolfson Centre, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, England

9. Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran

10. Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy

11. Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna, Italy

12. Institute of Human Genetics, Technische Universität München, Munich, Germany

13. Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany

14. Département de Neurochirurgie, Service Explorations Neuro-Ophtalmologiques, Fondation Rothschild, Paris, France

15. Clinique Pluridisciplinaire Jules Verne, Nantes, France

16. INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France

17. Division of Genetics and Molecular Medicine, King’s College London School of Medicine, London, England

18. Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London, England

19. Centre de Référence Pour Les Affections Rares en Génétique Ophtalmologique, CHU de Strasbourg, Strasbourg, France

20. Clinical Genetics Unit, Guy’s and St Thomas’ National Health Service Foundation Trust, London, England

21. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3