Literature DB >> 31970218

Mutation of the WARS2 Gene as the Cause of a Severe Hyperkinetic Movement Disorder.

Annemarie Hübers1, Hans-Jürgen Huppertz2, Saskia B Wortmann3,4,5, Jan Kassubek1.   

Abstract

Entities:  

Keywords:  Hyperkinetic movement disorder; aminoacyl tRNA synthetase; mitochondria; neurodevelopmental disorder

Year:  2019        PMID： 31970218      PMCID： PMC6962679          DOI： 10.1002/mdc3.12855

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  10 in total

1.  Mitochondrial disorders of the nuclear genome.

Authors:  C Angelini; L Bello; M Spinazzi; C Ferrati
Journal:  Acta Myol       Date:  2009-07

2.  Intra- and interscanner variability of automated voxel-based volumetry based on a 3D probabilistic atlas of human cerebral structures.

Authors:  Hans-Jürgen Huppertz; Judith Kröll-Seger; Stefan Klöppel; Reinhard E Ganz; Jan Kassubek
Journal:  Neuroimage       Date:  2009-10-28       Impact factor: 6.556

3.  Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.

Authors:  Matias Wagner; Riccardo Berutti; Bettina Lorenz-Depiereux; Elisabeth Graf; Gertrud Eckstein; Johannes A Mayr; Thomas Meitinger; Uwe Ahting; Holger Prokisch; Tim M Strom; Saskia B Wortmann
Journal:  J Inherit Metab Dis       Date:  2019-06-11       Impact factor: 4.982

Review 4.  A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Authors:  Saskia B Wortmann; Johannes A Mayr; Jean Marc Nuoffer; Holger Prokisch; Wolfgang Sperl
Journal:  Neuropediatrics       Date:  2017-06-09       Impact factor: 1.947

5.  Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

Authors:  Luciana Musante; Lucia Püttmann; Kimia Kahrizi; Masoud Garshasbi; Hao Hu; Henning Stehr; Bettina Lipkowitz; Sabine Otto; Lars R Jensen; Andreas Tzschach; Payman Jamali; Thomas Wienker; Hossein Najmabadi; Hans Hilger Ropers; Andreas W Kuss
Journal:  Hum Mutat       Date:  2017-03-23       Impact factor: 4.878

6.  Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.

Authors:  Sebastian R Schreglmann; Franz Riederer; Marian Galovic; Christos Ganos; Georg Kägi; Daniel Waldvogel; Zane Jaunmuktane; Andre Schaller; Ute Hidding; Ernst Krasemann; Lars Michels; Christian R Baumann; Kailash Bhatia; Hans H Jung
Journal:  Mov Disord       Date:  2017-09-13       Impact factor: 10.338

7.  Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Authors:  Saskia B Wortmann; Sharita Timal; Hanka Venselaar; Liesbeth T Wintjes; Robert Kopajtich; René G Feichtinger; Carla Onnekink; Mareike Mühlmeister; Ulrich Brandt; Jan A Smeitink; Joris A Veltman; Wolfgang Sperl; Dirk Lefeber; Ger Pruijn; Vesna Stojanovic; Peter Freisinger; Francjan V Spronsen; Terry Gj Derks; Hermine E Veenstra-Knol; Johannes A Mayr; Agnes Rötig; Mark Tarnopolsky; Holger Prokisch; Richard J Rodenburg
Journal:  Hum Mutat       Date:  2017-10-06       Impact factor: 4.878

8.  Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Authors:  Laura S Kremer; Felix Distelmaier; Bader Alhaddad; Maja Hempel; Arcangela Iuso; Clemens Küpper; Chris Mühlhausen; Reka Kovacs-Nagy; Robin Satanovskij; Elisabeth Graf; Riccardo Berutti; Gertrud Eckstein; Richard Durbin; Sascha Sauer; Georg F Hoffmann; Tim M Strom; René Santer; Thomas Meitinger; Thomas Klopstock; Holger Prokisch; Tobias B Haack
Journal:  Am J Hum Genet       Date:  2016-01-21       Impact factor: 11.025

9.  Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Authors:  Benjamin E Theisen; Anastasia Rumyantseva; Julie S Cohen; Wendy A Alcaraz; Deepali N Shinde; Sha Tang; Siddarth Srivastava; Jonathan Pevsner; Aleksandra Trifunovic; Ali Fatemi
Journal:  Am J Med Genet A       Date:  2017-06-26       Impact factor: 2.578

10.  Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Authors:  Imre F Schene; Gautam Kok; Sabine A Fuchs; Jurriaan M Jansen; Peter G J Nikkels; Koen L I van Gassen; Suzanne W J Terheggen-Lagro; Saskia N van der Crabben; Sanne E Hoeks; Laetitia E M Niers; Nicole I Wolf; Maaike C de Vries; David A Koolen; Roderick H J Houwen; Margot F Mulder; Peter M van Hasselt
Journal:  Genet Med       Date:  2018-06-06       Impact factor: 8.822
  10 in total
  1 in total

Review 1.  Mitochondrial protein synthesis and the bioenergetic cost of neurodevelopment.

Authors:  Pernille Bülow; Anupam Patgiri; Victor Faundez
Journal:  iScience       Date:  2022-08-13
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.