Found: 13
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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153
- By:
- Publication type:
- Article
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201341
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- Publication type:
- Article
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly.
- Published in:
- EMBO Journal, 2012, v. 31, n. 5, p. 1293, doi. 10.1038/emboj.2011.477
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 8, p. 2170, doi. 10.1093/brain/awp152
- By:
- Publication type:
- Article
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 3, p. 315, doi. 10.1007/s00401-005-1047-z
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- Publication type:
- Article
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
- Published in:
- Brain Pathology, 2022, v. 32, n. 4, p. 1, doi. 10.1111/bpa.13038
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- Publication type:
- Article
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 898, doi. 10.1002/jimd.12149
- By:
- Publication type:
- Article
Elisabeth Holme.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl- tRNA synthetase and prolyl- tRNA synthetase, in patients with Alpers syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 59, doi. 10.1002/mgg3.115
- By:
- Publication type:
- Article
CD4 T cell activation by myelin oligodendrocyte glycoprotein is suppressed by adult but not cord blood CD25.
- Published in:
- European Journal of Immunology, 2003, v. 33, n. 3, p. 579, doi. 10.1002/eji.200323701
- By:
- Publication type:
- Article