Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

Por Smits, Paulien, Smeitink, Jan, van den Heuvel, Lambert
Publicado em 2010

Reconstructing the evolution of the mitochondrial ribosomal proteome

Por Smits, Paulien, Smeitink, Jan A. M., van den Heuvel, Lambert P., Huynen, Martijn A., Ettema, Thijs J. G.
Publicado em 2007

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Por Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Publicado em 2011

Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects

Por Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard, van den Heuvel, Lambert
Publicado em 2010

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Por Smits, Paulien, Saada, Ann, Wortmann, Saskia B, Heister, Angelien J, Brink, Maaike, Pfundt, Rolph, Miller, Chaya, Haas, Dorothea, Hantschmann, Ralph, Rodenburg, Richard J T, Smeitink, Jan A M, van den Heuvel, Lambert P
Publicado em 2011

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Por Smeitink, Jan A. M., Elpeleg, Orly, Antonicka, Hana, Diepstra, Heleen, Saada, Ann, Smits, Paulien, Sasarman, Florin, Vriend, Gert, Jacob-Hirsch, Jasmine, Shaag, Avraham, Rechavi, Gideon, Welling, Brigitte, Horst, Jürgen, Rodenburg, Richard J., van den Heuvel, Bert, Shoubridge, Eric A.
Publicado em 2006