photo of Dr Nicole Van Bergen

Dr Nicole Van Bergen

Dr Nicole Van Bergen

Details

Role Team Leader / Senior Research Officer
Research area Genetics

Contact

Available for student supervision

Top Publications

  • 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. Journal of Inherited Metabolic Disease 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, 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. International Journal of Molecular Sciences 23(2) : 986 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. Human Molecular Genetics 31(3) : 362 -375 2021
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  • Van Bergen, NJ, Massey, S, Stait, T, Ellery, M, Reljić, B, Formosa, LE, Quigley, A, Dottori, M, Thorburn, D, Stroud, DA, et al. Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder. Neurobiology of Disease 155: 105370 2021
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