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Title
Mutations inRARScause hypomyelination
Authors
Keywords
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Journal
ANNALS OF NEUROLOGY
Volume 76, Issue 1, Pages 134-139
Publisher
Wiley
Online
2014-04-29
DOI
10.1002/ana.24167
References
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Related references
Note: Only part of the references are listed.- Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
- (2014) Xiaochang Zhang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
- (2013) Ryan J. Taft et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
- (2013) Regie Lyn P. Santos-Cortez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
- (2013) Eline van Meel et al. BMC Medical Genetics
- Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
- (2011) Geneviève Bernard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
- (2011) Martine Tétreault et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
- (2010) Miora Feinstein et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders
- (2010) Marjan E. Steenweg et al. BRAIN
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
- (2010) Morgane Stum et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- GARS axonopathy: not every neuron's cup of tRNA
- (2010) William W. Motley et al. TRENDS IN NEUROSCIENCES
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- MSC p43 required for axonal development in motor neurons
- (2009) X. Zhu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- An Important Role for the Multienzyme Aminoacyl-tRNA Synthetase Complex in Mammalian Translation and Cell Growth
- (2008) Sophia V. Kyriacou et al. MOLECULAR CELL
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