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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

Known as: COXPD12, LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE, LTBL 
 
National Institutes of Health

Papers overview

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Review
2019
Review
2019
BackgroundThe mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate… Expand
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2017
2017
Identifying the causative mutation for a mendelian disease among several, or many, genetic variants represents a challenge, even… Expand
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2016
2016
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2… Expand
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2016
2016
Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to… Expand
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2016
2016
Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids… Expand
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2015
2015
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by… Expand
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2013
2013
Sir, we read with great interest the report describing 12 patients presented with early onset severe neurological disease… Expand
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Review
2013
Review
2013
Active learning methodologies have evolved over the years in order to increase student input in the learning process. One example… Expand
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Highly Cited
2012
Highly Cited
2012
In the large group of genetically undetermined infantile-onset mitochondrial encephalopathies, multiple defects of mitochondrial… Expand
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2003
2003
The foot and mouth disease (FMD) epidemic in the UK in 2001 had devastating consequences, including the slaughter of millions of… Expand
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