Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Horvath, Rita, Hudson, Gavin, Ferrari, Gianfrancesco, Fütterer, Nancy, Ahola, Sofia, Lamantea, Eleonora, Prokisch, Holger, Lochmüller, Hanns, McFarland, Robert, Ramesh, V., Klopstock, Thomas, Freisinger, Peter, Salvi, Fabrizio, Mayr, Johannes A., Santer, Rene, Tesarova, Marketa, Zeman, Jiri, Udd, Bjarne, Taylor, Robert W., Turnbull, Douglass, Hanna, Michael, Fialho, Doreen, Suomalainen, Anu, Zeviani, Massimo, Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.07.2006)
Published in Brain (London, England : 1878) (01.07.2006)
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Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency
REICHENBACH, Janine, SCHUBERT, Ralf, ZIELEN, Stefan, HORVATH, Rita, PETERSEN, Jens, FÜTTERER, Nancy, MALLE, Elisabeth, STUMPF, Andreas, GEBHARDT, Boris R, KOEHL, Ulrike, SCHRAVEN, Burkhart
Published in Pediatric research (01.09.2006)
Published in Pediatric research (01.09.2006)
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Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations
Freisinger, Peter, Fütterer, Nancy, Lankes, Erwin, Gempel, Klaus, Berger, Thomas M, Spalinger, Johannes, Hoerbe, Alexandra, Schwantes, Claudia, Lindner, Martin, Santer, René, Burdelski, Martin, Schaefer, Hansjörg, Setzer, Bernhard, Walker, Ulrich A, Horváth, Rita
Published in Archives of neurology (Chicago) (01.08.2006)
Published in Archives of neurology (Chicago) (01.08.2006)
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Journal Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
DIMAURO, Salvatore, DAVIDZON, Guido, LOCHMÜLLER, Hanns, MCFARLAND, Robert, RAMESH, V, KLOPSTOCK, Thomas, FREISINGER, Peter, SALVI, Fabrizio, MAYR, Johannes A, SANTER, Rene, TESAROVA, Marketa, ZEMAN, Jiri, HIRANO, Michio, UDD, Bjarne, TAYLOR, Robert W, TURNBULL, Douglass, HANNA, Michael, FIALHO, Doreen, SUOMALAINEN, Anu, ZEVIANI, Massimo, CHINNERY, Patrick F, HORVATH, Rita, HUDSON, Gavin, FERRARI, Gianfrancesco, FÜTTERER, Nancy, AHOLA, Sofia, LAMANTEA, Eleonora, PROKISCH, Holger
Published in Brain (London, England : 1878) (2006)
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Published in Brain (London, England : 1878) (2006)
Journal Article