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Pediatric Research|April 28, 2010
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 geneRamon Martí, Andrés Nascimento, Jaume Colomer, et al.
Journal of Critical Care|March 4, 2016
Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rateLeonardo Lorente, María M Martín, Ester López-Gallardo, et al.
Frontiers in Genetics|February 3, 2015
An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutationsSonia Emperador, David Pacheu-Grau, M Pilar Bayona-Bafaluy, et al.
Clinical Genetics|January 9, 2020
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosisEster López-Gallardo, Francisco Cammarata-Scalisi, Sonia Emperador, et al.
Pediatric Nephrology (Berlin, Germany)|May 11, 2004
De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNAAbelardo Solano, Giovanna Russo, Ana Playán, et al.
Genes|September 2, 2020
Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNAMouna Habbane, Laura Llobet, M Pilar Bayona-Bafaluy, et al.
Annals of Neurology|December 21, 2005
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletionMerce Pineda, Aida Ormazabal, Esther López-Gallardo, et al.
Biomedica : Revista Del Instituto Nacional De Salud|February 25, 2003
[Phenotypic diagnosis of primary immunodeficiencies in Antioquia, Colombia, 1994-2002]Carlos Julio Montoya, Julieta Henao, Helí Salgado, et al.
Critical Care (London, England)|January 19, 2012
Survival and mitochondrial function in septic patients according to mitochondrial DNA haplogroupLeonardo Lorente, Ruth Iceta, María M Martín, et al.
Mitochondrial DNA|February 9, 2013
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletionJose Francisco Montiel-Sosa, María Dolores Herrero, Maria de Lourdes Munoz, et al.
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