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502 results on '"Verschuuren, J."'

103. G.P.147 - Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials

Author

Ricotti, V, Eagle, M, Butler, J, Decostre, V, Deborah, R, Moraux, A, Anthony, Karen, Sleby, V, Guglieri, M, Van der Holst, M, Jansen, M, Morgan, J, de Groot, I, Niks, E, Verschuuren, J, Servais, L, Hogrel, J Y, Voit, T, Straub, V, and Muntoni, F

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Novel emerging therapies for Duchenne muscular dystrophy (DMD), such as antisense oligomer (AO) mediated exon skipping, have generated the need of understanding the natural history study of the targeted genotype subgroups. Most natural history studies are focused on ambulant subjects; therefore very little data exists on non-ambulant DMD. Specifically targeting skippable deletions, we aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression beyond loss of ambulation.

Published
2015

104. The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

Author

Bladen, C.L. Salgado, D. Monges, S. Foncuberta, M.E. Kekou, K. Kosma, K. Dawkins, H. Lamont, L. Roy, A.J. Chamova, T. Guergueltcheva, V. Chan, S. Korngut, L. Campbell, C. Dai, Y. Wang, J. Barišić, N. Brabec, P. Lahdetie, J. Walter, M.C. Schreiber-Katz, O. Karcagi, V. Garami, M. Viswanathan, V. Bayat, F. Buccella, F. Kimura, E. Koeks, Z. van den Bergen, J.C. Rodrigues, M. Roxburgh, R. Lusakowska, A. Kostera-Pruszczyk, A. Zimowski, J. Santos, R. Neagu, E. Artemieva, S. Rasic, V.M. Vojinovic, D. Posada, M. Bloetzer, C. Jeannet, P.-Y. Joncourt, F. Díaz-Manera, J. Gallardo, E. Karaduman, A.A. Topaloğlu, H. El Sherif, R. Stringer, A. Shatillo, A.V. Martin, A.S. Peay, H.L. Bellgard, M.I. Kirschner, J. Flanigan, K.M. Straub, V. Bushby, K. Verschuuren, J. Aartsma-Rus, A. Béroud, C. Lochmüller, H.

Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). © 2015 The Authors.

Published
2015

105. Sensitivity of MG‐ADL for generalized weakness in myasthenia gravis.

Author

de Meel, R. H. P., Raadsheer, W. F., Verschuuren, J. J. G. M., Tannemaat, M. R., and van Zwet, E. W.

Subjects
MYASTHENIA gravis, ACTIVITIES of daily living, NEUROMUSCULAR diseases
Abstract

Background and purpose: Myasthenia gravis activities of daily living (MG‐ADL) is a commonly used questionnaire in MG trials. To investigate whether MG‐ADL is equally sensitive to oculobulbar and generalized weakness, its correlation with the oculobulbar and generalized domain of the quantitative myasthenia gravis (QMG) score was analyzed (QMGob and QMGgen, respectively). To test whether the sensitivity of MG‐ADL for generalized weakness could be improved, the additional value of ACTIVLIM on top of MG‐ADL in the prediction QMGgen in was investigated. Methods: MG‐ADL, QMG and ACTIVLIM, an ADL questionnaire focusing on generalized weakness, were analyzed in a prospective cohort of 112 MG patients. A generalized linear model was used to calculate the correlation of MG‐ADL with QMGob and QMGgen and to assess the additional value of ACTIVLIM on top of MG‐ADL for its correlation with QMGgen. Results: MG‐ADL had a higher correlation with QMGob than with QMGgen (B = 0.68, P < 0.001, and B = 0.38, P < 0.001, respectively). A similar trend was found for changes in the scores (B = 0.68, P = 0.132, and B = 0.39, P = 0.492, respectively). ACTIVLIM had a significant additional value on top of MG‐ADL in the prediction of QMGgen, both cross‐sectionally (B = −0.61, P < 0.001) and for changes within individual patients (B = −0.93, P = 0.041). Conclusion: MG‐ADL has a lower sensitivity for generalized weakness than for oculobulbar weakness. Adding questions on generalized weakness would improve the sensitivity of the MG‐ADL for generalized weakness. [ABSTRACT FROM AUTHOR]

Published
2019
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106. Randomized trial of thymectomy in myasthenia gravis

Author

Wolfe, G. I., Kaminski, H. J., Aban, I. B., Minisman, G., Kuo, H. -C., Marx, A., Ströbel, P., Mazia, C., Oger, J., Cea, J. G., Heckmann, J. M., Evoli Stampanoni-B, Amelia, Nix, W., Ciafaloni, E., Antonini, G., Witoonpanich, R., King, J. O., Beydoun, S. R., Chalk, C. H., Barboi, A. C., Amato, A. A., Shaibani, A. I., Katirji, B., Lecky, B. R. F., Buckley, C., Vincent, A., Dias-Tosta, E., Yoshikawa, H., Waddington-Cruz, M., Pulley, M. T., Rivner, M. H., Kostera-Pruszczyk, A., Pascuzzi, R. M., Jackson, C. E., Garcia Ramos, G. S., Verschuuren, J. J. G. M., Massey, J. M., Kissel, J. T., Werneck, L. C., Benatar, M., Barohn, R. J., Tandan, R., Mozaffar, T., Conwit, R., Odenkirchen, J., Sonett, J. R., Jaretzki, A., Newsom-Davis, J., Cutter, G. R., Evoli, A. (ORCID:0000-0003-0282-8787), Wolfe, G. I., Kaminski, H. J., Aban, I. B., Minisman, G., Kuo, H. -C., Marx, A., Ströbel, P., Mazia, C., Oger, J., Cea, J. G., Heckmann, J. M., Evoli Stampanoni-B, Amelia, Nix, W., Ciafaloni, E., Antonini, G., Witoonpanich, R., King, J. O., Beydoun, S. R., Chalk, C. H., Barboi, A. C., Amato, A. A., Shaibani, A. I., Katirji, B., Lecky, B. R. F., Buckley, C., Vincent, A., Dias-Tosta, E., Yoshikawa, H., Waddington-Cruz, M., Pulley, M. T., Rivner, M. H., Kostera-Pruszczyk, A., Pascuzzi, R. M., Jackson, C. E., Garcia Ramos, G. S., Verschuuren, J. J. G. M., Massey, J. M., Kissel, J. T., Werneck, L. C., Benatar, M., Barohn, R. J., Tandan, R., Mozaffar, T., Conwit, R., Odenkirchen, J., Sonett, J. R., Jaretzki, A., Newsom-Davis, J., Cutter, G. R., and Evoli, A. (ORCID:0000-0003-0282-8787)

Abstract

BACKGROUND: Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone. METHODS: We compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone. Patients 18 to 65 years of age who had generalized nonthymomatous myasthenia gravis with a disease duration of less than 5 years were included if they had Myasthenia Gravis Foundation of America clinical class II to IV disease (on a scale from I to V, with higher classes indicating more severe disease) and elevated circulating concentrations of acetylcholine-receptor antibody. The primary outcomes were the time-weighted average Quantitative Myasthenia Gravis score (on a scale from 0 to 39, with higher scores indicating more severe disease) over a 3-year period, as assessed by means of blinded rating, and the time-weighted average required dose of prednisone over a 3-year period. RESULTS: A total of 126 patients underwent randomization between 2006 and 2012 at 36 sites. Patients who underwent thymectomy had a lower time-weighted average Quantitative Myasthenia Gravis score over a 3-year period than those who received prednisone alone (6.15 vs. 8.99, P<0.001); patients in the thymectomy group also had a lower average requirement for alternate-day prednisone (44 mg vs. 60 mg, P<0.001). Fewer patients in the thymectomy group than in the prednisone-only group required immunosuppression with azathioprine (17% vs. 48%, P<0.001) or were hospitalized for exacerbations (9% vs. 37%, P<0.001). The number of patients with treatment-associated complications did not differ significantly between groups (P=0.73), but patients in the thymectomy group had fewer treatment-associated symptoms related to immunosuppressive medications (P<0.001) and lower distress levels related to symptoms (P=0.003). CONCLUSIONS: Thymectomy improved cl

Published
2016

107. Randomized trial of thymectomy in myasthenia gravis

Author

Wolfe, G. I, Kaminski, H. J., Aban, I. B., Minisman, G., Kuo, H. C., Marx, A., Ströbel, P., Mazia, C., Oger, J., Cea, J. G., Heckmann, J. M., Evoli Stampanoni-B, Amelia, Nix, W., Ciafaloni, E., Antonini, G., Witoonpanich, R., King, J. O., Beydoun, S. R., Chalk, C. H., Barboi, A. C., Amato, A. A., Shaibani, A. I., Katirji, B., Lecky, B. R. F., Buckley, C., Vincent, A., Dias Tosta, E., Yoshikawa, H., Waddington Cruz, M., Pulley, M. T., Rivner, M. H., Kostera Pruszczyk, A., Pascuzzi, R. M., Jackson, C. E., Garcia Ramos, G. S., Verschuuren, J. J. G. M., Massey, J. M., Kissel, J. T., Werneck, L. C., Benatar, M., Barohn, R. J., Tandan, R., Mozaffar, T., Conwit, R., Odenkirchen, J., Sonett, J. R., Jaretzki, A., Newsom Davis, J., Cutter, G. R., Evoli, Amelia (ORCID:0000-0003-0282-8787), Wolfe, G. I, Kaminski, H. J., Aban, I. B., Minisman, G., Kuo, H. C., Marx, A., Ströbel, P., Mazia, C., Oger, J., Cea, J. G., Heckmann, J. M., Evoli Stampanoni-B, Amelia, Nix, W., Ciafaloni, E., Antonini, G., Witoonpanich, R., King, J. O., Beydoun, S. R., Chalk, C. H., Barboi, A. C., Amato, A. A., Shaibani, A. I., Katirji, B., Lecky, B. R. F., Buckley, C., Vincent, A., Dias Tosta, E., Yoshikawa, H., Waddington Cruz, M., Pulley, M. T., Rivner, M. H., Kostera Pruszczyk, A., Pascuzzi, R. M., Jackson, C. E., Garcia Ramos, G. S., Verschuuren, J. J. G. M., Massey, J. M., Kissel, J. T., Werneck, L. C., Benatar, M., Barohn, R. J., Tandan, R., Mozaffar, T., Conwit, R., Odenkirchen, J., Sonett, J. R., Jaretzki, A., Newsom Davis, J., Cutter, G. R., and Evoli, Amelia (ORCID:0000-0003-0282-8787)

Abstract

BACKGROUND: Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone. METHODS: We compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone. Patients 18 to 65 years of age who had generalized nonthymomatous myasthenia gravis with a disease duration of less than 5 years were included if they had Myasthenia Gravis Foundation of America clinical class II to IV disease (on a scale from I to V, with higher classes indicating more severe disease) and elevated circulating concentrations of acetylcholine-receptor antibody. The primary outcomes were the time-weighted average Quantitative Myasthenia Gravis score (on a scale from 0 to 39, with higher scores indicating more severe disease) over a 3-year period, as assessed by means of blinded rating, and the time-weighted average required dose of prednisone over a 3-year period. RESULTS: A total of 126 patients underwent randomization between 2006 and 2012 at 36 sites. Patients who underwent thymectomy had a lower time-weighted average Quantitative Myasthenia Gravis score over a 3-year period than those who received prednisone alone (6.15 vs. 8.99, P<0.001); patients in the thymectomy group also had a lower average requirement for alternate-day prednisone (44 mg vs. 60 mg, P<0.001). Fewer patients in the thymectomy group than in the prednisone-only group required immunosuppression with azathioprine (17% vs. 48%, P<0.001) or were hospitalized for exacerbations (9% vs. 37%, P<0.001). The number of patients with treatment-associated complications did not differ significantly between groups (P=0.73), but patients in the thymectomy group had fewer treatment-associated symptoms related to immunosuppressive medications (P<0.001) and lower distress levels related to symptoms (P=0.003). CONCLUSIONS: Thymectomy improved cl

Published
2016

110. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials

Author

Domingos, J., primary, Eagle, M., additional, Moraux, A., additional, Butler, J., additional, Decostre, V., additional, Ridout, D., additional, Mayhew, A., additional, Selby, V., additional, Guglieri, M., additional, Van der Holst, M., additional, Jansen, M., additional, Verschuuren, J., additional, de Groot, I., additional, Niks, E., additional, Servais, L., additional, Hogrel, J., additional, Straub, V., additional, Voit, T., additional, Ricotti, V., additional, and Muntoni, F., additional

Published
2016
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112. Guidelines for pre-clinical animal and cellular models of MuSK-myasthenia gravis

Author

Phillips, W D, Christadoss, P, Losen, M, Punga, Anna Rostedt, Shigemoto, K, Verschuuren, J, Vincent, A, Phillips, W D, Christadoss, P, Losen, M, Punga, Anna Rostedt, Shigemoto, K, Verschuuren, J, and Vincent, A

Abstract

Muscle-specific tyrosine kinase (MuSK) autoantibodies are the hallmark of a form of myasthenia gravis (MG) that can challenge the neurologist and the experimentalist. The clinical disease can be difficult to treat effectively. MuSK autoantibodies affect the neuromuscular junction in several ways. When added to muscle cells in culture, MuSK antibodies disperse acetylcholine receptor clusters. Experimental animals actively immunized with MuSK develop MuSK autoantibodies and muscle weakness. Weakness is associated with reduced postsynaptic acetylcholine receptor numbers, reduced amplitudes of miniature endplate potentials and endplate potentials, and failure of neuromuscular transmission. Similar impairments have been found in mice injected with IgG from MG patients positive for MuSK autoantibody (MuSK-MG). The active and passive models have begun to reveal the mechanisms by which MuSK antibodies disrupt synaptic function at the neuromuscular junction, and should be valuable in developing therapies for MuSK-MG. However, translation into new and improved treatments for patients requires procedures that are not too cumbersome but suitable for examining different aspects of MuSK function and the effects of potential therapies. Study design, conduct and analysis should be carefully considered and transparently reported. Here we review what has been learnt from animal and culture models of MuSK-MG, and offer guidelines for experimental design and conduct of studies, including sample size determination, randomization, outcome parameters and precautions for objective data analysis. These principles may also be relevant to the increasing number of other antibody-mediated diseases that are now recognized.

Published
2015
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113. Evaluation of skeletal muscle DTI in patients with duchenne muscular dystrophy

Author

Hooijmans, M. T., Damon, B. M., Froeling, M., Versluis, M. J., Burakiewicz, J., Verschuuren, J. J G M, Niks, E. H., Webb, A. G., Kan, H. E., Hooijmans, M. T., Damon, B. M., Froeling, M., Versluis, M. J., Burakiewicz, J., Verschuuren, J. J G M, Niks, E. H., Webb, A. G., and Kan, H. E.

Published
2015

114. The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations

Author

Bladen, C.L., Salgado, D., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Viswanathan, V., Bayat, F., Buccella, F., Kimura, E., Koeks, Z., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Zimowski, J., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Jeannet, P-Y, Joncourt, F., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Bellgard, M.I., Kirschner, J., Flanigan, K.M., Straub, V., Bushby, K., Verschuuren, J., Aartsma-Rus, A., Beroud, C., Lochmüller, H., Bladen, C.L., Salgado, D., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Viswanathan, V., Bayat, F., Buccella, F., Kimura, E., Koeks, Z., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Zimowski, J., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Jeannet, P-Y, Joncourt, F., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Bellgard, M.I., Kirschner, J., Flanigan, K.M., Straub, V., Bushby, K., Verschuuren, J., Aartsma-Rus, A., Beroud, C., and Lochmüller, H.

Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

Published
2015

115. Evaluation of skeletal muscle DTI in patients with duchenne muscular dystrophy

Author

Highfield Research Group, Hooijmans, M. T., Damon, B. M., Froeling, M., Versluis, M. J., Burakiewicz, J., Verschuuren, J. J G M, Niks, E. H., Webb, A. G., Kan, H. E., Highfield Research Group, Hooijmans, M. T., Damon, B. M., Froeling, M., Versluis, M. J., Burakiewicz, J., Verschuuren, J. J G M, Niks, E. H., Webb, A. G., and Kan, H. E.

Published
2015

117. Climate change adaptation and compensation

Author

Faure, M.G., Verschuuren, J., Maastr Inst for Transnat Legal Research, RS: FdR Europees Privaatrecht, RS: FdR IC Milieurecht, RS: FdR, RS: FdR Institute METRO, and RS: FdR Institute M-EPLI

Subjects
Reinsurance, Government, Intervention (law), Environmental law, Incentive, Public economics, Compensation (psychology), Liability, Economics, Climate change
Abstract

This chapter focuses on one particular aspect of adaptation to climate change, being the fact that climate change can create large losses. The paper addresses the question how compensation for those losses can be generated. After sketching a few general principles the paper addresses the pros and cons of different compensation mechanisms, in turn the role of liability rules, first party insurance, a compensation fund, direct compensation by government and reinsurance by government are discussed. The paper argues that the desirability of adequate compensation for climate change related damage cannot be ignored, given the potentially catastrophic nature of climate change related damage. The paper argues strongly in favour of an optimal use of first party insurance, eventually in combination with an intervention of government as reinsurer of last resort (in order to deal with catastrophic losses). The paper argues against direct compensation by government since that may create negative incentives for prevention.

Published
2013
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125. Individual patient (n=1) 'trials' in Duchenne dystrophy Response

Author

Aartsma-Rus, A., Furlong, P., Vroom, E., Ommen, G.J. van, Niks, E., Straathof, C., Verschuuren, J., Hagger, L., Heslop, E., Karcagi, V., Kirschner, J., Ouillade, M.C., Rahbeck, J., Rehmann-Sutter, C., Rouault, F., Sejersen, T., Woods, S., and LUMC Duchenne Team

Published
2011

127. Chorea and related movement disorders of paraneoplastic origin: the PNS EuroNetwork experience

Author

Vigliani, Mc, Honnorat, J, Antoine, Jc, Vitaliani, R, Giometto, B, Psimaras, D, Franchino, F, Rossi, C, Graus, F, Pns, Euronetwork, Bertolini, G., Blaes, F., Fazio, R., Graus, F., Grisold, W., Hart, I., Honnorat, J., Lorusso, L., Rauer, S., Rees, J., Rodi, Z., Sillevis Smitt, P., Stourac, P., Tonali, P., Vedeler, C., Verschuuren, J., Vincent, A., Mazzeo, Anna, Vitaliani, R., Voltz, R., and Giometto, B.

Published
2011

135. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials

Author

Ricotti, V., primary, Eagle, M., additional, Butler, J., additional, Decostre, V., additional, Deborah, R., additional, Moraux, A., additional, Anthony, K., additional, Sleby, V., additional, Guglieri, M., additional, van der Holst, M., additional, Jansen, M., additional, Morgan, J., additional, de Groot, I., additional, Niks, E., additional, Verschuuren, J., additional, Servais, L., additional, Hogrel, J.Y., additional, Voit, T., additional, Straub, V., additional, and Muntoni, F., additional

Published
2015
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139. An overview of RNA therapeutics

Author

Ommen, G.J.B. van, Aartsma-Rus, A., Putten, M. van, Thoen, P.B., Verbeek, S., Yilmaz, S., Roon, W. van, Evers, M., Verschuuren, J., Goemans, N., Tulinus, M., Kimpes, S. de, Campion, G., and Deutekom, J. van

Published
2010

140. MMP-9 serum levels increase over time in Duchenne muscular dystrophy patients and decrease upon treatment with drisapersen

Author

Lourbakos, A., Hiller, M., Kozaczynska, K., Baptiste, R. Jean, Reza, M., Niks, E., Koeks, Z., de Klerk, D., Wolterbeek, R., Campion, G., Nadarajah, V. D., Szigyarto, Cristina Al-Khalili, Calissano, M., Muntoni, F., Lochmueller, H., Verschuuren, J. J. G. M., Goemans, N., Tulinius, M., de Kimpe, S., Aartsma-Rus, A., 't Hoen, P. A. C., Spitali, P., Lourbakos, A., Hiller, M., Kozaczynska, K., Baptiste, R. Jean, Reza, M., Niks, E., Koeks, Z., de Klerk, D., Wolterbeek, R., Campion, G., Nadarajah, V. D., Szigyarto, Cristina Al-Khalili, Calissano, M., Muntoni, F., Lochmueller, H., Verschuuren, J. J. G. M., Goemans, N., Tulinius, M., de Kimpe, S., Aartsma-Rus, A., 't Hoen, P. A. C., and Spitali, P.

Abstract

QC 20150107

Published
2014

141. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Author

Lynn, S, Aartsma Rus, A, Bushby, K, Furlong, P, Goemans, N, De Luca, A, Mayhew, A, Mcdonald, C, Mercuri, Eugenio Maria, Muntoni, F, Pohlschmidt, M, Verschuuren, J, Voit, T, Vroom, E, Wells, Dj, Straub, V., Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Lynn, S, Aartsma Rus, A, Bushby, K, Furlong, P, Goemans, N, De Luca, A, Mayhew, A, Mcdonald, C, Mercuri, Eugenio Maria, Muntoni, F, Pohlschmidt, M, Verschuuren, J, Voit, T, Vroom, E, Wells, Dj, Straub, V., and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Published
2014

142. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Cl, Thompson, R, Jackson, Jm, Garland, C, Wegel, C, Ambrosini, A, Pisano, P, Walter, Mc, Schreiber, O, Lusakowska, A, Jedrzejowska, M, Kostera Pruszczyk, A, Van Der Pol, L, Wadman, Ri, Gredal, O, Karaduman, A, Topaloglu, H, Yilmaz, O, Matyushenko, V, Rasic, Vm, Kosac, A, Karcagi, V, Garami, M, Herczegfalvi, A, Monges, S, Moresco, A, Chertkoff, L, Chamova, T, Guergueltcheva, V, Butoianu, N, Craiu, D, Korngut, L, Campbell, C, Haberlova, J, Strenkova, J, Alejandro, M, Jimenez, A, Ortiz, Gg, Enriquez, Gvg, Rodrigues, M, Roxburgh, R, Dawkins, H, Youngs, L, Lahdetie, J, Angelkova, N, Saugier Veber, P, Cuisset, J, Bloetzer, C, Jeannet, P, Klein, A, Nascimento, A, Tizzano, E, Salgado, D, Mercuri, Eugenio Maria, Sejersen, T, Kirschner, J, Rafferty, K, Straub, V, Bushby, K, Verschuuren, J, Beroud, C, Lochmüller, H., Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Bladen, Cl, Thompson, R, Jackson, Jm, Garland, C, Wegel, C, Ambrosini, A, Pisano, P, Walter, Mc, Schreiber, O, Lusakowska, A, Jedrzejowska, M, Kostera Pruszczyk, A, Van Der Pol, L, Wadman, Ri, Gredal, O, Karaduman, A, Topaloglu, H, Yilmaz, O, Matyushenko, V, Rasic, Vm, Kosac, A, Karcagi, V, Garami, M, Herczegfalvi, A, Monges, S, Moresco, A, Chertkoff, L, Chamova, T, Guergueltcheva, V, Butoianu, N, Craiu, D, Korngut, L, Campbell, C, Haberlova, J, Strenkova, J, Alejandro, M, Jimenez, A, Ortiz, Gg, Enriquez, Gvg, Rodrigues, M, Roxburgh, R, Dawkins, H, Youngs, L, Lahdetie, J, Angelkova, N, Saugier Veber, P, Cuisset, J, Bloetzer, C, Jeannet, P, Klein, A, Nascimento, A, Tizzano, E, Salgado, D, Mercuri, Eugenio Maria, Sejersen, T, Kirschner, J, Rafferty, K, Straub, V, Bushby, K, Verschuuren, J, Beroud, C, Lochmüller, H., and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.

Published
2014

148. Rechtsontwikkeling

Author

van der Burg, W., Witteveen, W.J., Verschuuren, J., and Tilburg Law School

Published
2004

150. Het coach-syndroom

Author

Lauwerier, R.G.J., Witteveen, W., Verschuuren, J., and Tilburg Law School

Published
2004

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