GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment-Reference-Cited by-同舟云学术

GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

Published:2020-03-17 Issue:5 Volume:182 Page:1167-1176
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Markovitz Rebecca¹,Ghosh Rajarshi¹^ORCID,Kuo Molly E.²³,Hong William¹⁴⁵,Lim Jaehyung¹⁴⁵,Bernes Saunder⁶,Manberg Stephanie⁶,Crosby Kathleen⁷,Tanpaiboon Pranoot⁷,Bharucha‐Goebel Diana⁸⁹,Bonnemann Carsten⁸⁹,Mohila Carrie A.¹⁰¹¹,Mizerik Elizabeth¹⁵,Woodbury Suzanne⁵¹²,Bi Weimin¹^ORCID,Lotze Timothy⁴⁵,Antonellis Anthony²¹³¹⁴,Xiao Rui¹,Potocki Lorraine¹⁵

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

2. Cellular and Molecular Biology ProgramUniversity of Michigan Ann Arbor Michigan

3. Medical Scientist Training ProgramUniversity of Michigan Ann Arbor Michigan

4. Department of Pediatrics, Division of Neurology and Developmental NeuroscienceBaylor College of Medicine Houston Texas

5. Texas Children's Hospital Houston Texas

6. Division of Child NeurologyBarrow Neurological Institute, Phoenix Children's Hospital Phoenix Arizona

7. Division of Genetics and MetabolismChildren's National Hospital, Rare Disease Institute Washington District of Columbia

8. Division of NeurologyChildren's National Hospital Washington District of Columbia

9. Neuromuscular and Neurogenetic Disorders of Childhood SectionNINDS, National Institutes of Health Bethesda Maryland

10. Department of PathologyTexas Children's Hospital Houston Texas

11. Department of Pathology and ImmunologyBaylor College of Medicine Houston Texas

12. Baylor College of MedicineDepartment of Physical Medicine and Rehabilitation Houston Texas

13. Department of Human GeneticsUniversity of Michigan Ann Arbor Michigan

14. Department of NeurologyUniversity of Michigan Ann Arbor Michigan

Funder

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61544

Reference33 articles.

1. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

3. Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

4. [10] 5-Fluoroorotic acid as a selective agent in yeast molecular genetics

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