Blar i NTNU Open på forfatter "Lien, Espen"
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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Journal article; Peer reviewed, 2016)Background and purpose Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency ... -
Apolipoprotein E and Cerebral Palsy: A Cross-sectional Study of the Influence of Genetic Variation on Clinical Manifestations of CP
Lien, Espen (Doctoral thesis at NTNU;2015:246, Doctoral thesis, 2015)Cerebral palsy (CP) is the most common neurodevelopmental disorder in children, showing varying degrees of motor impairments, activity limitations and accompanying disturbances of function. A long-held belief has been ...