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Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies. by Fischer, M, Tanimoto, N, Beck, S, Huber, G, Schaeferhoff, K, Michalakis, S, Riess, O, Wissinger, B, Biel, M, Bonin, M, Seeliger, M
Published 2010Journal article -
2
In vivo analysis of cone survival in mice. by Beck, S, Schaeferhoff, K, Michalakis, S, Fischer, M, Huber, G, Rieger, N, Riess, O, Wissinger, B, Biel, M, Bonin, M, Seeliger, M, Tanimoto, N
Published 2010Journal article -
3
Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice. by Schaeferhoff, K, Michalakis, S, Tanimoto, N, Fischer, MD, Becirovic, E, Beck, S, Huber, G, Rieger, N, Riess, O, Wissinger, B, Biel, M, Seeliger, M, Bonin, M
Published 2010Journal article -
4
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. by Horn, D, Kapeller, J, Rivera-Brugués, N, Moog, U, Lorenz-Depiereux, B, Eck, S, Hempel, M, Wagenstaller, J, Gawthrope, A, Monaco, A, Bonin, M, Riess, O, Wohlleber, E, Illig, T, Bezzina, C, Franke, A, Spranger, S, Villavicencio-Lorini, P, Seifert, W, Rosenfeld, J, Klopocki, E, Rappold, G, Strom, T
Published 2010Journal article -
5
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Genomics England Research Consortium, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H
Published 2022Journal article -
6
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease by Plagnol, V, Nalls, M, Bras, J, Hernandez, D, Sharma, M, Sheerin, U, Saad, M, Simon-Sanchez, J, Schulte, C, Lesage, S, Sveinbjornsdottir, S, Amouyel, P, Arepalli, S, Band, G, Barker, R, Bellinguez, C, Ben-Shlomo, Y, Berendse, H, Berg, D, Bhatia, K, de Bie, R, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Brockmann, K, Brooks, J, Burn, D, Charlesworth, G, Chen, H, Chinnery, P, Chong, S, Clarke, C, Cookson, MR, Cooper, J, Corvol, J, Counsell, C, Damier, P, Dartigues, J, Deloukas, P, Deuschl, G, Dexter, D, van Dijk, K, Dillman, A, Durif, F, Duerr, A, Edkins, S, Evans, JR, Foltynie, T, Freeman, C, Gao, J, Gardner, M, Gibbs, JR, Goate, A, Gray, E, Guerreiro, R, Gustafsson, O, Harris, C, Hellenthal, G, van Hilten, J, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Huber, H, Hudson, G, Hunt, SE, Huttenlocher, J, Illig, T, Jonsson, P, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, McNeill, A, Moorby, C, Moore, M, Morris, H, Morrison, K, Mudanohwo, E, O'Sullivan, S, Pearson, J, Pearson, R, Perlmutter, J, Petursson, H, Pirinen, M, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, de Silva, R, Smith, C, Spencer, C, Stefansson, H, Steinberg, S, Stockton, J, Strange, A, Su, Z, Talbot, K, Tanner, C, Tashakkori-Ghanbaria, A, Tison, F, Trabzuni, D, Traynor, B, Uitterlinden, A, Vandrovcova, J, Velseboer, D, Vidailhet, M, Vukcevic, D, Walker, R, van de Warrenburg, B, Weale, M, Wickremaratchi, M, Williams, N, Williams-Gray, C, Winder-Rhodes, S, Stefansson, K, Martinez, M, Donnelly, P, Singleton, AB, Hardy, J, Heutink, P, Brice, A, Gasser, T, Wood, N, WTCCC2
Published 2011Journal article