Associated Papers
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Iwanicka-Pronicka K et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR et al.
Annals of Neurology, 2017
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Rodríguez-García ME et al.
Neurogenetics, 2016
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB et al.
Nature Genetics, 2012
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Roesch S et al.
Molecular Genetics and Metabolism, 0
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