COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

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

Topic mentions per year

Topic mentions per year

2007-2017
02420072017

Papers overview

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2017
2017
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive… (More)
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2017
2017
Identifying the causative mutation for a mendelian disease among several, or many, genetic variants represents a challenge, even… (More)
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2016
2016
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2… (More)
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2016
2016
Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to… (More)
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2016
2016
Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids… (More)
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2016
2016
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of… (More)
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2015
2015
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by… (More)
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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… (More)
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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… (More)
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2007
2007
OBJECTIVE To analyse the clinical characteristics, treatments and prognosis of patients with T-cell non-Hodgkins lymphoma (NHL… (More)
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