Marzena Walkiewicz
Marzena Walkiewicz
Top Publications
- Helman, G, Takanohashi, A, Hagemann, TL, Perng, MD, Walkiewicz, M, Woidill, S, Sase, S, Cross, Z, Du, Y, Zhao, L, et al. Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.. Hum Mutat 43(9) : 1344 2022 view publication
- 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 view publication
- Richardson, ZA, Deleage, C, Tutuka, CSA, Walkiewicz, M, Del Río-Estrada, PM, Pascoe, RD, Evans, VA, Reyesteran, G, Gonzales, M, Roberts-Thomson, S, et al. Multiparameter immunohistochemistry analysis of HIV DNA, RNA and immune checkpoints in lymph node tissue.. J Immunol Methods 501: 113198 2022 view publication
- Helman, G, Taylor, LE, Walkiewicz, M, Le Moing, M, Eggers, S, Yaplito-Lee, J, Fuller, M, Dabscheck, G, Rodriguez-Casero, V, White, SM, et al. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.. Eur J Med Genet 64(8) : 104259 2021 view publication
- Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.. Hum Mutat 42(1) : 19 -24 2021 view publication
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