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Number of items: 19.

Journal Article

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

Ferreira, N. Mendoza, Karakaya, M., Cengiz, N., Beijer, D., Fuhrmann, N., Hoelker, I., Schrank, B., Brigatti, K., Gonzaga-Jauregui, C., Puffenberger, E., Wunderlich, G., De Jonghe, P., Deconinck, T., Strauss, K., Baets, J. and Wirth, B. (2020). Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 99 - 100. LONDON: SPRINGERNATURE. ISSN 1476-5438

Gualandi, F., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Scotton, C., Di Raimo, F., Mauro, A., Tugnoli, V, Timmerman, V, Wirth, B., De Grandis, D. and Ferlini, A. (2016). CLINICAL NEXT GENERATION SEQUENCING GENE PANEL IDENTIFIED A NOVEL ATP7A MUTATION IN TWO BROTHERS WITH DISTAL HEREDITARY MOTOR NEUROPATHY AND AUTONOMIC DYSFUNCTION. J. Peripher. Nerv. Syst., 21 (3). S. 262 - 263. HOBOKEN: WILEY-BLACKWELL. ISSN 1529-8027

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

Muinos-Buehl, A., Rombo, R., Janzen, E., Ling, K. K., Hupperich, K., Rigo, F., Bennett, C. F. and Wirth, B. (2022). Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks. Neurobiol. Dis., 171. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1095-953X

Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schoels, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2017). Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Eur. J. Neurol., 24. S. 500 - 501. HOBOKEN: WILEY. ISSN 1468-1331

Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schols, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'Amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2016). Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Neuromusc. Disord., 26. S. S162 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Neri, M., Scotton, C., Selvatici, R., Gualandi, F., Wirth, B., Schols, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'Amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2017). The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project. Neuromusc. Disord., 27. S. S194 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Neri, M., Selvatici, R., Scotton, C., Storbeck, M., Vezyroglou, K., Heller, R., Tugnoli, V., Bigoni, S., Timmerman, V., Wirth, B., De, D., Gualandi, F. and Ferlini, A. (2017). Clinical gene panel in UNIFE patients orphans of genetic diagnosis. Neuromusc. Disord., 27. S. S195 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Paketci, C., Karakaya, M., Edem, P., Bayram, E., Keller, N., Daimagueler, H-S, Cirak, S., Jordanova, A., Hiz, S., Wirth, B. and Yis, U. (2020). Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies. Rev. Neurol., 176 (10). S. 846 - 856. MOULINEAUX CEDEX 9: MASSON EDITEUR. ISSN 2213-0004

Pavinato, L., Howe, J. L., Carli, D., Agolini, E., Coviello, D. A., Van de Laar, I. M. B. H., Au, P. Y. B., Di Gregorio, E., Giorgio, E., Pozzi, E., Ferrero, M., Cardaropoli, S., Delle Vedove, A., Salpietro, V., Zara, F., Novelli, A., Wirth, B., Ferrero, G. B., Scherer, S. W. and Brusco, A. (2020). Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 322 - 323. LONDON: SPRINGERNATURE. ISSN 1476-5438

Powis, R. A., Mutsaers, C. A., Wishart, T. M., Hunter, G., Wirth, B. and Gillingwater, T. H. (2014). Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target. Neuropathol. Appl. Neurobiol., 40 (7). S. 873 - 888. HOBOKEN: WILEY-BLACKWELL. ISSN 1365-2990

Schneider, S., Riessland, M., Kaczmarek, A., Swoboda, K. J., Loehr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Kroeber, S., Hoelker, I., Garbes, L., Gilissen, C., Hoischen, A., Nuernberg, G., Nuernberg, P., Walter, M., Rigo, F., Bennett, C. F., Kye, M. J., Hart, A. C., Hammerschmidt, M., Kloppenburg, P. and Wirth, B. (2018). Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy. Eur. J. Hum. Genet., 26. S. 55 - 57. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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

Scotton, C., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Neri, M., Di Raimo, F., Mauro, A., Tugnoli, V., Timmerman, V., Wirth, B., De Grandis, D., Gualandi, F. and Ferlini, A. (2015). Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction. Neuromusc. Disord., 25. S. S224 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Torbati, P. N., Karimiani, E. G., Ferreira, N. M., Maroofian, R., Chelban, V., Khalil, Y., Mills, P. B., Boostani, R., Thiele, H., Houlden, H., Wirth, B. and Karakaya, M. (2020). A treatable hereditary polyneuropathy due to impaired Vitamin B6 metabolism. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 439 - 441. LONDON: SPRINGERNATURE. ISSN 1476-5438

Turner, C., Brice, A., Bushby, K., Riess, O., Hanna, M., van Ommen, G., Muntoni, F., Klockgether, T., Wirth, B., Lochmueller, H., Timmerman, V., Schoells, L., Straub, V. and Tabrizi, S. (2015). NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases. Neuromusc. Disord., 25. S. S298 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Turner, C., Bushby, K., Johnston, L., Lochmueller, H., Riess, O., Wirth, B., Straub, V., Thompson, R. and van Ommen, G. (2015). Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease. Neuromusc. Disord., 25. S. S298 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Wirth, B. (2017). The power of genetic modifiers in spinal muscular atrophy. Neuromusc. Disord., 27. S. S2 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

This list was generated on Mon Jun 24 08:52:54 2024 CEST.