WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia-Reference-Cited by-同舟云学术

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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Published:2022-01 Issue: Volume:94 Page:54-61
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Skorvanek Matej^ORCID,Rektorova Irena,Mandemakers Wim,Wagner Matias,Steinfeld Robert^ORCID,Orec Laura,Han Vladimir,Pavelekova Petra,Lackova Alexandra,Kulcsarova Kristina,Ostrozovicova Miriam,Gdovinova Zuzana,Plecko Barbara,Brunet Theresa,Berutti Riccardo,Kuipers Demy J.S.,Boumeester Valerie,Havrankova Petra,Tijssen M.A.J.,Kaiyrzhanov Rauan,Rizig Mie^ORCID,Houlden Henry,Winkelmann Juliane,Bonifati Vincenzo,Zech Michael,Jech Robert

Funder

German Research Foundation

Univerzita Karlova

Ministerstvo zdravotnictví České republiky

Technische Universität München

European Regional Development Fund

Else Kroner-Fresenius-Stiftung

Agentúra na podporu výskumu a vývoja Slovenskej republiky

Stichting ParkinsonFonds

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference22 articles.

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

2. Aminoacyl-tRNA synthetase deficiencies in search of common themes;Fuchs;Genet. Med.,2019

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

4. Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism;Martinelli;Park. Relat. Disord.,2020

5. Expanding the phenotype: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) due to WARS2 biallelic variants, encoding mitochondrial tryptophanyl-tRNA synthase;Virdee;J. Child Neurol.,2019

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1. Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature;The Cerebellum;2024-07-29

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

3. The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia;Journal of Clinical Investigation;2024-04-01

4. Next-generation sequencing and bioinformatics in rare movement disorders;Nature Reviews Neurology;2024-01-03

5. Unusual Movement Disorders;Movement Disorders Phenomenology;2024

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