Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism-Reference-Cited by-同舟云学术

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Published:2020-03 Issue: Volume:72 Page:75-79
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Martinelli Simone,Cordeddu Viviana,Galosi Serena,Lanzo Ambra,Palma Eleonora,Pannone Luca,Ciolfi Andrea,Di Nottia Michela,Rizza Teresa,Bocchinfuso Gianfranco,Traversa Alice,Caputo Viviana,Farrotti Andrea,Carducci Claudia,Bernardini Laura,Cogo Susanna,Paglione Maria,Venditti Martina,Bentivoglio Annarita,Ng Joanne,Kurian Manju A.,Civiero Laura,Greggio Elisa,Stella Lorenzo,Trettel Flavia,Sciaccaluga Miriam,Roseti Cristina,Carrozzo Rosalba,Fucile Sergio,Limatola Cristina,Di Schiavi Elia,Tartaglia Marco,Leuzzi Vincenzo

Funder

Fondazione Bambino Gesù

Italian Ministry of Instruction

University and Research

Michael J Fox Foundation for Parkinson Research

Italian Ministry of Health

Italian Association for Cancer Research

Italian Ministry of University and Research

University of Rome Tor Vergata

Telethon Foundation

European Community

NIH

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference12 articles.

1. Defects in trafficking bridge Parkinson's disease pathology and genetics;Abeliovich;Nature,2016

2. Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance;Lubbe;Hum. Mol. Genet.,2016

3. Aminoacyl-tRNA synthesis;Ibba;Annu. Rev. Biochem.,2000

4. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability;Musante;Hum. Mutat.,2017

5. Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism;Burke;Clin. Genet.,2018

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2. Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases;Human Molecular Genetics;2024-06-30

3. Pseudorabies virus manipulates mitochondrial tryptophanyl-tRNA synthetase 2 for viral replication;Virologica Sinica;2024-06

4. The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant;Genes;2023-03-29

5. Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA;Current Neurology and Neuroscience Reports;2023-03-07