Concepedia
Molecular Genetics and Metabolism · 2007 · 63 citations · 12 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersMitochondrial DiseaseMitochondrial DisordersLeigh SyndromeMutation
12
Titrating the Effects of Mitochondrial Complex I Impairment in the Cell Physiology
Antoni Barrientos, Carlos T. Moraes · Journal of Biological Chemistry · 1999 · 386 citations · Full text
Life Sciences, Cell Biology, Physiology +17
Clinical and molecular findings in children with complex I deficiency
Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 263 citations
Life Sciences, Genetics, Pediatrics +10
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen et al. · Annals of Neurology · 1999 · 193 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
Paule Bénit · Journal of Medical Genetics · 2004 · 186 citations · Full text
Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene
Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 186 citations
Life Sciences, Genetics, Molecular Genetics +9