Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials by Cortina-Borja, M, Vruchte, D, Mengel, E, Amraoui, Y, Imrie, J, Jones, SA, Dali, C, Fineran, P, Kirkegaard, T, Runz, H, Lachman, R, Bremova-Ertl, T, Strupp, M, Platt, FM

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. by Speak, A, Platt, N, Salio, M, te Vruchte, D, Smith, D, Shepherd, D, Veerapen, N, Besra, G, Yanjanin, N, Simmons, L, Imrie, J, Wraith, J, Lachmann, R, Hartung, R, Runz, H, Mengel, E, Beck, M, Hendriksz, C, Porter, F, Cerundolo, V, Platt, F

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities by Loesch, DP, Garg, M, Matelska, D, Vitsios, D, Jiang, X, Ritchie, SC, Sun, BB, Runz, H, Whelan, CD, Holman, RR, Mentz, RJ, Moura, FA, Wiviott, SD, Sabatine, MS, Udler, MS, Gause-Nilsson, IA, Petrovski, S, Oscarsson, J, Nag, A, Paul, DS, Inouye, M

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. by Rauschenberger, K, Schöler, K, Sass, J, Sauer, S, Djuric, Z, Rumig, C, Wolf, N, Okun, J, Kölker, S, Schwarz, H, Fischer, C, Grziwa, B, Runz, H, Nümann, A, Shafqat, N, Kavanagh, K, Hämmerling, G, Wanders, R, Shield, J, Wendel, U, Stern, D, Nawroth, P, Hoffmann, G, Bartram, C, Arnold, B

A NON-ENZYMATIC FUNCTION OF 17-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 10 IS REQUIRED FOR MITOCHONDRIAL INTEGRITY AND CELL SURVIVAL by Zschocke, J, Rausehenberger, K, Schoeler, K, Sass, J, Sauer, S, Djuric, Z, Rumig, C, Wolf, N, Okun, J, Koelker, S, Schwarz, H, Runz, H, Nuemann, A, Shafqat, N, Kavanagh, K, Haemmerling, G, Wanders, R, Shield, J, Wendel, U, Nawroth, P, Hoffmann, G, Bartram, C, Arnold, B, Bierhaus, A, Oppermann, U

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. by Rauschenberger, K, Schöler, K, Sass, J, Sauer, S, Djuric, Z, Rumig, C, Wolf, N, Okun, J, Kölker, S, Schwarz, H, Fischer, C, Grziwa, B, Runz, H, Nümann, A, Shafqat, N, Kavanagh, K, Hämmerling, G, Wanders, R, Shield, J, Wendel, U, Stern, D, Nawroth, P, Hoffmann, G, Bartram, C, Arnold, B

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. by Schwerd, T, Pandey, S, Yang, H, Bagola, K, Jameson, E, Jung, J, Lachmann, R, Shah, N, Patel, S, Booth, C, Runz, H, Düker, G, Bettels, R, Rohrbach, M, Kugathasan, S, Chapel, H, Keshav, S, Elkadri, A, Platt, N, Muise, A, Koletzko, S, Xavier, R, Marquardt, T, Powrie, F, Wraith, J, Gyrd-Hansen, M, Platt, F, Uhlig, H

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases by Zheng, J, Haberland, V, Baird, D, Walker, V, Haycock, PC, Hurle, MR, Gutteridge, A, Erola, P, Liu, Y, Luo, S, Robinson, J, Richardson, TG, Staley, JR, Elsworth, B, Burgess, S, Sun, BB, Danesh, J, Runz, H, Maranville, JC, Martin, HM, Yarmolinsky, J, Laurin, C, Holmes, MV, Liu, JZ, Estrada, K, Santos, R, McCarthy, L, Waterworth, D, Nelson, MR, Smith, GD, Butterworth, AS, Hemani, G, Scott, RA, Gaunt, TR

Phenome-wide association studies across large population cohorts support drug target validation by Diogo, D, Tian, C, Franklin, C, Alanne-Kinnunen, M, March, M, Spencer, C, Vangjeli, C, Weale, M, Mattsson, H, Kilpeläinen, E, Sleiman, P, Reilly, D, McElwee, J, Maranville, J, Chatterjee, A, Bhandari, A, Nguyen, K, Estrada, K, Reeve, M, Hutz, J, Bing, N, John, S, Macarthur, D, Salomaa, V, Ripatti, S, Hakonarson, H, Daly, M, Palotie, A, Hinds, D, Donnelly, P, Fox, C, Day-Williams, A, Plenge, R, Runz, H