Details

Role Team Leader / Senior Research Fellow

Research area Genomic Medicine

Group Brain and Mitochondrial

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Available for student supervision

Van Bergen, NJ, Walvekar, AS, Patraskaki, M, Sikora, T, Linster, CL, Christodoulou, J. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.. J Inherit Metab Dis 45(6) : 1028 -1038 2022
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Van Bergen, NJ, Massey, S, Quigley, A, Rollo, B, Harris, AR, Kapsa, RMI, Christodoulou, J. CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.. Biochem Soc Trans 50(4) : 1207 -1224 2022
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Van Bergen, NJ, Walvekar, AS, Linster, CL, Christodoulou, J. Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.. Brain 145(5) : e41 -e42 2022
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Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.. Hum Mol Genet 31(3) : 362 -375 2022
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Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, et al. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.. Int J Mol Sci 23(2) : 2022
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