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3-Methylglutaconic aciduria type 3

Known as: OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA, IRAQI-JEWISH 'OPTIC ATROPHY PLUS', 3-@METHYLGLUTACONIC ACIDURIA, TYPE III 
National Institutes of Health

Related topics

Related topics

10 relations
Abnormality of extrapyramidal motor functionAtaxiaAutosomal recessive inheritanceDysarthria

Broader (3)

ChoreaInborn Errors of MetabolismSpastic Paraplegia, Hereditary

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
The genetic diagnosis in inherited optic neuropathies often remains challenging, and the emergence of complex neurological… 
Review
2014
Review
2014
Methylotrophy in the thermophilic Bacillus methanolicus, basic insights and application for commodity production from methanol
Using methanol as an alternative non-food feedstock for biotechnological production offers several advantages in line with a… 
2013
2013
What pre-deployment and early post-deployment factors predict health function after combat deployment?: a prospective longitudinal study of Operation Enduring Freedom (OEF)/Operation Iraqi Freedom…
BackgroundPhysical and mental function are strong indicators of disability and mortality. OEF/OIF Veterans returning from… 
2013
2013
Gunshot wounds in military working dogs in Operation Enduring Freedom and Operation Iraqi Freedom: 29 cases (2003-2009).
OBJECTIVE To describe the patient population, injuries, and treatment received on the battlefield, and ultimate outcome of U.S… 
Highly Cited
2012
Highly Cited
2012
Modelling Exchange Rate Volatility using GARCH Models: Empirical Evidence from Arab Countries
This paper considers the generalized autoregressive conditional heteroscedastic approach in modelling exchange rate volatility in… 
Highly Cited
2012
Highly Cited
2012
Genome Sequence of Thermotolerant Bacillus methanolicus: Features and Regulation Related to Methylotrophy and Production of l-Lysine and l-Glutamate from Methanol
ABSTRACT Bacillus methanolicus can utilize methanol as its sole carbon and energy source, and the scientific interest in this… 
Review
2012
Review
2012
Self-Report Measures to Identify Post Traumatic Stress Disorder and/or Mild Traumatic Brain Injury and Associated Symptoms in Military Veterans of Operation Enduring Freedom (OEF)/Operation Iraqi…
Individuals serving in Iraq and Afghanistan sustain injuries associated with physical and psychological trauma. Among such… 
Highly Cited
2011
Highly Cited
2011
Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness
CYP2C19 is a principal enzyme involved in the bioactivation of the antiplatelet prodrug clopidogrel and common CYP2C19 loss-of… 
Highly Cited
2004
Highly Cited
2004
Plasmid-Dependent Methylotrophy in Thermotolerant Bacillus methanolicus
ABSTRACT Bacillus methanolicus can efficiently utilize methanol as a sole carbon source and has an optimum growth temperature of… 
Highly Cited
1997
Highly Cited
1997
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both… 
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