CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement DisorderSaskia B. Wortmann, Ron A. Wevers, Felix Distelmaier et al.|The American Journal of Human Genetics|2015Cited by 135
Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Matthis Synofzik, Tommaso Schirinzi et al.|Annals of Neurology|2020Cited by 77
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Felix Distelmaier, Annette Seibt et al.|Journal of Medical Genetics|2021Cited by 27
Bi‐Allelic <scp><i>COQ4</i></scp> Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum DiseaseIsabell Cordts, Marcus Deschauer, Luisa Semmler et al.|Movement Disorders|2022Cited by 21
Neuroimaging in Primary Coenzyme-Q10-Deficiency DisordersJuliane Münch, Felix Distelmaier, Jannik Prasuhn et al.|Antioxidants|2023Cited by 17