Omar Hikmat

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, K Naess, Martin Engvall et al. · Journal of Inherited Metabolic Disease · 2020 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 74 citations · Full text

Life Sciences, Genetics, Neurology +17

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Omar Hikmat, Charalampos Tzoulis, W.K. Chong et al. · Genetics in Medicine · 2017 · 64 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Diagnostic value of serum biomarkers <scp>FGF21</scp> and <scp>GDF15</scp> compared to muscle sample in mitochondrial disease

Jenni M. Lehtonen, Mari Auranen, Niklas Darín et al. · Journal of Inherited Metabolic Disease · 2020 · 59 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

<i><scp>ADCK</scp>3</i> mutations with epilepsy, stroke‐like episodes and ataxia: a <scp>POLG</scp> mimic?

Omar Hikmat, Charalampos Tzoulis, P.M. Knappskog et al. · European Journal of Neurology · 2016 · 52 citations · Full text

Life Sciences, Genetics, Neurology +17