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Publications by authors named "Aida Font"

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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Xènia Ferrer-Cortès, Aida Font, Núria Bujan, Aleix Navarro-Sastre, Leslie Matalonga

J Inherit Metab Dis· September 2013


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Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.
Aida Font, Frederic Tort, Aleix Navarro-Sastre, Victòria Cusí, Judit García-Villoria

JIMD Rep· February 2013


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A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Aleix Navarro-Sastre, Frederic Tort, Oliver Stehling, Marta A Uzarska, José Antonio Arranz, Aida Font

Am J Hum Genet· November 2011


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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Ester Quintana, Mercé Pineda, Aida Font, Maria Antonia Vilaseca, Frederic Tort

J Inherit Metab Dis· December 2010


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