Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism-Reference-Cited by-同舟云学术

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism

Published:2018-02-05 Issue:3 Volume:93 Page:712-718
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Burke E.A.¹,Frucht S.J.²,Thompson K.³,Wolfe L.A.¹⁴,Yokoyama T.⁵,Bertoni M.¹,Huang Y.⁴,Sincan M.¹,Adams D.R.¹⁴,Taylor R.W.³,Gahl W.A.¹⁴⁵,Toro C.¹⁴,Malicdan M.C.V.¹⁴

Affiliation:

1. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director; NHGRI, NIH; Bethesda Maryland

2. Movement Disorders Division; School of Medicine, New York University Langone; New York New York

3. Wellcome Centre for Mitochondrial Research; Institute of Neuroscience, The Medical School, Newcastle University; Newcastle upon Tyne UK

4. Office of the Clinical Director; NHGRI, NIH; Bethesda Maryland

5. Section of Human Biochemical Genetics, Medical Genetics Branch; NHGRI, NIH; Bethesda Maryland

Funder

Wellcome Centre for Mitochondrial Research

NIH Office of the Director

National Human Genome Research Institute

Mitochondrial Disease Patient Cohort

UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children

Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease

Lily Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13172/fullpdf

Reference23 articles.

1. Epidemiological, clinical, and genetic characteristics of early-onset Parkinsonism;Schrag;Lancet Neurol,2006

2. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease;Kun-Rodrigues;Hum Mol Genet,2015

3. Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study;Siitonen;Neurobiol Aging,2017

4. SnapShot: genetics of Parkinson's disease;Bras;Cell,2015

5. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset Parkinsonism-dystonia;Tuschl;Nat Commun,2016

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