Associated Papers
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2022
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
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.
Wedatilake Y et al.
Neuropathology and Applied Neurobiology, 2015
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
Vilarinho S et al.
Journal of Hepatology, 2014
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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