Abnormal fatty acid metabolism is a core component of spinal muscular atrophy-Reference-Cited by-同舟云学术

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Published:2019-07-26 Issue:8 Volume:6 Page:1519-1532
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Deguise Marc‐Olivier¹²³^ORCID,Baranello Giovanni⁴⁵,Mastella Chiara⁶,Beauvais Ariane¹,Michaud Jean⁷,Leone Alessandro⁸,De Amicis Ramona⁸,Battezzati Alberto⁸,Dunham Christopher⁹,Selby Kathryn¹⁰,Warman Chardon Jodi²³¹¹¹²¹³,McMillan Hugh J.¹⁴,Huang Yu‐Ting¹⁵¹⁶,Courtney Natalie L.¹⁵¹⁶¹⁷,Mole Alannah J.¹⁵¹⁶¹⁷,Kubinski Sabrina¹⁸¹⁹,Claus Peter¹⁸¹⁹,Murray Lyndsay M.¹⁵¹⁶¹⁷,Bowerman Melissa²⁰²¹²²,Gillingwater Thomas H.¹⁵¹⁶,Bertoli Simona⁸,Parson Simon H.¹⁵²³,Kothary Rashmi¹²³¹³^ORCID

Affiliation:

1. Regenerative Medicine Program Ottawa Hospital Research Institute Ottawa Ontario Canada

2. Department of Cellular and Molecular Medicine University of Ottawa Ottawa Ontario Canada

3. Centre for Neuromuscular Disease University of Ottawa Ottawa Ontario CanadaK1H 8M5

4. UO Neurologia dello Sviluppo Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

5. The Dubowitz Neuromuscular Centre NIHR BRC University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London United Kingdom

6. SAPRE‐UONPIA, Fondazione IRCCS Cà' Granda Ospedale Maggiore Policlinico Milan Italy

7. Department of Pathology and Laboratory Medicine, Faculty of Medicine University of Ottawa Ottawa Ontario Canada

8. International Center for the Assessment of Nutritional Status (ICANS), Department of Food, Environmental and Nutritional Sciences (DeFENS) University of Milan Milan Italy

9. Division of Anatomic Pathology Children's and Women's Health Centre of B.C Vancouver British Columbia Canada

10. Division of Neurology, Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada

11. Neuroscience Program, Ottawa Hospital Research Institute Ottawa Ontario Canada

12. Department of Pediatrics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

13. Department of Medicine University of Ottawa Ottawa Ontario Canada

14. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada

15. Euan MacDonald Centre for Motor Neurone Disease Research University of Edinburgh Edinburgh United Kingdom

16. College of Medicine & Veterinary Medicine University of Edinburgh Edinburgh United Kingdom

17. Centre for Discovery Brain Science University of Edinburgh Edinburgh United Kingdom

18. Institute of Neuroanatomy and Cell Biology Hannover Medical School Hannover Germany

19. Center of Systems Neuroscience Hannover Germany

20. School of Medicine Keele University Staffordshire United Kingdom

21. Institute for Science and Technology in Medicine Stoke‐on‐Trent United Kingdom

22. Wolfson Centre for Inherited Neuromuscular Disease RJAH Orthopaedic Hospital Oswestry United Kingdom

23. Institute of Medical Sciences University of Aberdeen Aberdeen United Kingdom

Funder

Muscular Dystrophy Association

Canadian Institutes of Health Research

Fondazione Telethon

Cure SMA

Tenovus

National Institutes of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50855

Reference57 articles.

1. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

2. Identification and characterization of a spinal muscular atrophy-determining gene

3. RNA-Processing Dysfunction in Spinal Muscular Atrophy

4. Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology

5. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

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