 | Up a level |
2022
Schorling, D., Koelbel, H., Hentschel, A., Pechmann, A., Meyer, N., Wirth, B., Rombo, R., Sickmann, A., Kirschner, J., Schara-Schmidt, U., Lochmueller, H. and Roos, A. (2022). Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy. Neuromusc. Disord., 32. S. S64 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
2020
Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M. and Wirth, B. (2020). A recurrent de novo CAPRIN1 mutation causes a novel progressive early onset neurodegenerative disorder. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 404 - 405. LONDON: SPRINGERNATURE. ISSN 1476-5438
Karakaya, M., Keller, N., Altmueller, J., Motameny, S., Thiele, H., Wunderlich, G., Kirschner, J., Schrank, B., Maroofian, R., Paketci, C., Yis, U., Nuernberg, P. and Wirth, B. (2020). Variants causing mitochondrial dysfunction are not rare in non-5q SMA: Re-evaluation of thirty families by exome sequencing. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 442 - 443. LONDON: SPRINGERNATURE. ISSN 1476-5438
2019
Gravesande, K. Storm Van's, Calabrese, P., Blaschek, A., Rostasy, K., Huppke, P., Rothe, L., Mall, V, Kessler, J., Kalbe, E., Kraus, V, Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pachee, S., Mohrbach, M., Karenfort, M., Kamp, G., Luecke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffmann, H., de Soye, I, Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R. and Novak, A. (2019). The Multiple Sclerosis Inventory of Cognition for Adolescents (MUSICADO): A brief screening instrument to assess cognitive dysfunction, fatigue and loss of health-related quality of life in pediatric-onset multiple sclerosis. Eur. J. Paediatr. Neurol., 23 (6). S. 792 - 801. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130
Gravesande, Karin Storm Van's, Blaschek, Astrid, Calabrese, Pasquale, Rostasy, Kevin, Huppke, Peter, Kessler, Josef J., Kalbe, Elke, Mall, Volker, Kraus, V, Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pachee, S., Mohrbach, M., Karenfort, M., Kamp, G., Luecke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffinann, H., de Soye, I, Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R. and Novak, A. (2019). Fatigue and depression predict health-related quality of life in patients with pediatric-onset multiple sclerosis. Mult. Scler. Relat. Disord., 36. OXFORD: ELSEVIER SCI LTD. ISSN 2211-0356