Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy-Reference-Cited by-同舟云学术

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Published:2017-06-23 Issue:10 Volume:38 Page:1348-1354
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nakayama Tojo¹²³^ORCID,Wu Jiang⁴,Galvin-Parton Patricia⁵,Weiss Jody⁵,Andriola Mary R.⁵,Hill R. Sean¹²⁶,Vaughan Dylan J.¹²,El-Quessny Malak¹²,Barry Brenda J.¹²⁶,Partlow Jennifer N.¹²⁶,Barkovich A. James⁷,Ling Jiqiang⁴⁸,Mochida Ganeshwaran H.¹²³⁹

Affiliation:

1. Division of Genetics and Genomics; Department of Medicine; Boston Children's Hospital; Boston Massachusetts

2. Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts

3. Department of Pediatrics; Harvard Medical School; Boston Massachusetts

4. Department of Microbiology and Molecular Genetics; Medical School; University of Texas Health Science Center; Houston Texas

5. Department of Pediatrics; Stony Brook University Medical Center; Stony Brook; New York

6. Howard Hughes Medical Institute; Boston Children's Hospital; Boston Massachusetts

7. Department of Radiology and Biomedical Imaging; University of California; San Francisco; San Francisco California

8. Graduate School of Biomedical Sciences; Houston Texas

9. Pediatric Neurology Unit; Department of Neurology; Massachusetts General Hospital; Boston Massachusetts

Funder

Manton Center for Orphan Disease Research

National Institute of Neurological Disorders and Stroke

NIH/Fogarty International Center

National Institute of General Medical Sciences

Dubai Harvard Foundation for Medical Research

Japan Foundation for Pediatric Research

Japan Society for the Promotion of Science

F. Hoffmann-La Roche

Qatar National Research Fund

Boston Children's Hospital Faculty Career Development Award.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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