Clinical, biochemical, and genetic features associated with VARS2 -related mitochondrial disease
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical, biochemical, and genetic features associated with VARS2
-related mitochondrial disease
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 39, Issue 4, Pages 563-578
Publisher
Wiley
Online
2018-01-03
DOI
10.1002/humu.23398
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
- (2016) Laura S. Kremer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
- (2016) Andrea Legati et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- The clinical, biochemical and genetic features associated withRMND1-related mitochondrial disease
- (2016) Yi Shiau Ng et al. JOURNAL OF MEDICAL GENETICS
- New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
- (2016) Ewa Pronicka et al. Journal of Translational Medicine
- Neonatal encephalocardiomyopathy caused by mutations in VARS2
- (2016) Fabian Baertling et al. METABOLIC BRAIN DISEASE
- A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing
- (2016) Fatma Bastaki et al. MOLECULAR AND CELLULAR PROBES
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Novel, Compound Heterozygous, Single-Nucleotide Variants inMARS2Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
- (2015) Bryn D. Webb et al. HUMAN MUTATION
- Mutations in the mitochondrial cysteinyl-tRNA synthase gene,CARS2,lead to a severe epileptic encephalopathy and complex movement disorder
- (2015) Curtis R Coughlin et al. JOURNAL OF MEDICAL GENETICS
- Mutations causing mitochondrial disease: What is new and what challenges remain?
- (2015) R. N. Lightowlers et al. SCIENCE
- Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
- (2015) Mariella Simon et al. PLoS Genetics
- VARS2andTARS2Mutations in Patients with Mitochondrial Encephalomyopathies
- (2014) Daria Diodato et al. HUMAN MUTATION
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
- (2014) Robert W. Taylor et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients
- (2014) Michela Catteruccia et al. MOLECULAR GENETICS AND METABOLISM
- Novel (ovario) leukodystrophy related to AARS2 mutations
- (2014) C. Dallabona et al. NEUROLOGY
- Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
- (2013) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
- (2013) Abdulraheem Almalki et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Mitochondrial aminoacyl-tRNA synthetases in human disease
- (2013) Svetlana Konovalova et al. MOLECULAR GENETICS AND METABOLISM
- REXO2 Is an Oligoribonuclease Active in Human Mitochondria
- (2013) Francesco Bruni et al. PLoS One
- Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
- (2012) Jenni M. Elo et al. HUMAN MOLECULAR GENETICS
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
- (2012) Tobias B Haack et al. JOURNAL OF MEDICAL GENETICS
- Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
- (2012) Vafa Bayat et al. PLOS BIOLOGY
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human diseases with impaired mitochondrial protein synthesis
- (2011) Agnès Rötig BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More