NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
Dorota Piekutowska‐Abramczuk(Children's Memorial Health Institute), Johannes A. Mayr(Paracelsus Medical University), Joanna Trubicka(Children's Memorial Health Institute), Zahra Assouline(Hôpital Necker-Enfants Malades), Saskia B. Wortmann(Paracelsus Medical University), Mirjana Gušić(Helmholtz Zentrum München), Agnès Rötig(Université Paris Cité), Piotr Gasperowicz(Medical University of Warsaw), Lavinija Mataković(Paracelsus Medical University), Ewa Pronicka(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw), Wolfgang Sperl(Paracelsus Medical University), Piotr Stawiński(Medical University of Warsaw), Katarzyna Iwanicka‐Pronicka(Children's Memorial Health Institute), Holger Prokisch(Helmholtz Zentrum München), Elżbieta Ciara(Children's Memorial Health Institute), Eliška Koňaříková(Helmholtz Munich), René G. Feichtinger(Paracelsus Medical University), Agnieszka Pollak(Institute of Physiology and Pathology of Hearing), Dariusz Rokicki(Children's Memorial Health Institute), Elżbieta Jurkiewicz(Children's Memorial Health Institute), Sylvain Hanein(Inserm), Andreas Koller(Paracelsus Medical University), Giulia Barcia(Hôpital Necker-Enfants Malades)
Cited by 66
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues
|The Lancet|1999|667
Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations
|PLoS Genetics|2009|661
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562