Results 61 to 70 of about 4,206 (188)
Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen
Frontiers in Neurology, 2019 Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness.Stefan Gingele, Martin W. Hümmert, Sascha Alvermann, Konstantin F. Jendretzky, Lena Bönig, Marina Brieskorn, Philipp Schwenkenbecher, Kurt-Wolfram Sühs, Lars H. Müschen, Alma Osmanovic, Olivia Schreiber-Katz, Martin Stangel, Susanne Petri, Thomas Skripuletz +13 moredoaj +1 more sourceNusinersen versus sham control in infantile-onset spinal muscular atrophy
, 2017 BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein.Stein, S., Finkel, R. S., Allen, V., Nelson, L., Gomez Garcia de la Banda, M. B., Z. John Zhong, Patnaik, S, Gidaro, T., Siener, C., O'Reardon, K., Austin, ED, Cruz, R, Kuntz, Nancy L., Yan, C. S., Endsley, J. D., Wenderickx, B., Proud, C., Martinez Bermejo, A., Ito, Y., Perez, J, Fukuda, N., Dunaway, S., Gadeken, R, Case, L., Herbert, K. J., Laine, R, Kramer, S, Sethna, N, Welsh, L., Al-Ghamdi, F, Kim, H., Finkel, RS, Chan, S., Case, L, Shun, T. N., Popolizio, M, Nagata, S., Jo, H., Michoulas, A., Carry, T., Wider, S., Richard S. Finkel, McElroy, D., Doumit, M. A., Nishikawa, A., Gilbert, G., Hen, J, Aziz-Zaman, S, Smith, E., Nelson, N, Johnson, N., DeCock, K., Staudt, L., Marra, J., Parsons, J., de Los Angeles Tormos Munoz, M., Dastgir, J., Ikai, T., Kandula, T., Bishop, K, Anand, P, Kurz, J., Eckenweiler, M., Topaloglu, H, Kelly, C., Popolizio, M., Oriyama, K., Sigurdardottir, L. Y., Al-Ghamdi, F., Golumbek, PT, ENDEAR Study Group, Carroll, K. M., Blomgren, C., Aziz-Zaman, S., Lilien, C., Quigley, J, Paulose, S., Eldblom, J., Mirek, E., Trucco, F., Choi, S. A., Miki, M., Ollievier, Q., Fuhr, P., Gunbey, C., Lord-Halvorson, L. S., Coppens, S., Benjamin, D., Engelstad, K, Kuntz, Nancy L, Russman, B, Servais, L., Golumbek, P. T., Rao, L., Ardicli, D., Wildon Farwell, Darryl C. De Vivo, Purse, B., Lee, J. S., Zaidman, C. M., Ki, N. Y., Bradley, WG, Takeshita, A., Marra, J, Connolly, Anne M, Shibano, T., Salazar, R, Tran, V., Nelson, N., Ingelmo, P. M., Rucian, A. F., Sanabria, L., Skura, C., Nicolarsen, S., O'Brien, J., Sampson, J., Zielinski, D., Cruz, R., Castro, D., Konuskan, B., Alvin, H. C. C., Eduardo Tizzano, Taicher, B, Toms, M., Benjamin, D, Arakawa, R., Lee, T., Ghosh, P, Holuba La Marca, N., Dowling, J., Coates, J, So, S., Shin, H. I., Ito, S., De Vivo, D. C., Garcia Guixot, S., De Sanctis, R., Van Coster, R., Berde, C, Eto, K., Basil T. Darras, Mercuri, E, D'Souza, G., Yiu, E. M., Schneider, E., Fujino, T., Munell Casadesus, F., Frank, A., Johnson, H., Stella, C., Teoh, H. L., Chou, Y. H., Proud, C, Saito, K, Sivo, S., Yamauchi, A., Vens, D., Chae, J. H., Chung, A. C., Kasper, M., Wand, L, Bishop, Kathie, Farrar, Michelle ; https://orcid.org/, Parziale, N., Villano, D., Rambaud, J., DiBella, D., Janice, I. J. K., Shieh, P., Baily, S., Bishop, K., Tulinius, Mar, Welsh, L, Shea, S., Lanteri, P., Kauk, M., Servais, L, Roberts, C., Wood, C., Sakamuri, S, Leon, W., Shih, H. H., Sanjanwala, B., Matsumaru, S., DeArmey, S., Pena, L. D. M., Ordonez, G., Dastgir, J, Milleson, C., Gargaun, E., Weimer, L, Bennett, C. F., Kaneko, H., Connolly, AM, del Pilar Tirado Requero, M., Glanzman, A. M., Yvonne, Y., Topaloglu, H., De Valle, K. L., Epstein, L., Gratacos Vinola, M., Yildiz Sarikaya, F. G., Coates, J., Flickinger, J., Schneider, Eugene, ENDEAR Study Group, the, Voit, T., Khandji, A, Planas Pascual, B., Berry, D., Scoto, M., Zigmont, J., Shimomura, H., Wootton, J, De Vivo, Dominique, Weber-Guzman, F., Dorban, F., Manzur, A., Chen, T. H., Harrington, T., Gormley, M., Berde, C., Bennett, C Frank, Zaidman, CM, Srour, M., Yang, M., Sethna, N., Taicher, B., del Mar Melendez Plumed, M., C. Frank Bennett, Vanlander, Arnaud, Sampson, J, De Vivo, DC, Kandula, Tejaswi ; https://orcid.org/, Garaventa, A., Salazar, R., Tesi Rocha, A. C., Selby, V., Temucin, C. M., Bielsky, A., Constantinescu, A, Matsushima, N., Roberts, C, Szelag, H., Rupprich, K., Ortiz-Miller, C, Bodensteriner, J. B., Liang, W. C., Chiriboga, CA, Mayer, M., Saito, Kayoko, Choi, H. W., Montes, J., Topaloglu, Haluk, Chiba, Y., Graham, R., Turner, J., Chung, H. W., Ju, Y. H., Pechmann, A., Cappell, J, Perez, J., Krüger, M., Gilabert, S., Tulinius, M., De Vos voor, E., Michael, E., Berthon-Jones, N., Farwell, Wildon, Engelstad, K., Lim, B. C., Kuntz, N. L., Wand, L., Arpin, S., Harrington, T, Connelly, AM, Graham, R, Aguilar, C., Homi, M. M., Booker, K., Fiorillo, C., Christiaens, A., Luigetti, M., Finanger, E, Zeng, Y. S., Chiriboga, Claudia A., Kitsuwa-Lowe, J., Pedermonte, M., Murphy, A., Finanger, E., Haluk Topaloglu, Tulinius, M, Muntoni, F., McFall, D, D'Souza, G, Hirasawa, K., Takeshima, Y., Lanzillotta, V., Schroers, E. S., Civitello, M., Anne M. Connolly, Gallardo, M., Sarah Gheuens, Sanjanwala, B, Sugimoto, K., Allan M. Glanzman, King, C., Tanyildiz, M., Zhong, ZJ, Van Der Looven, R., Gee, R, Tizzano, Eduardo, Connolly, Anne M., Eugene Schneider, Montes, J, Darin, N., Piastra Marco, Said, J. W., Purse, B, Schneider, E, Zhong, Z. J., Dunaway, S, Ryan, M., Otani, Y., Gormley, M, Day, JW, Brandsema, J., Toro Tamargo, E., Cowie, M., Piastra, M., Mayne, K., Selby, K., Kroksmark, A. K., Bennett, CF, Day, J. W., Pena, LDM, Shell, R., Zuffi, A., De Vivo, D. C., Iannaccone, S. T., Herbert, A., Ordonez, G, Rao, V., Yilmaz, O. T., Chun, S. M., Roland, E., Koelbel, H., del Mar Garcia Romero, M., Gibbons, M., Bishop, Kathie M., Lofra, R. M., Vogt, S., Ricotti, V., Kitsuwa-Lowe, J, Zhong, Z John, Joseph, C. K. W., Homi, MM, Trest, S., Lister, PH., Karaduman, A. A., Finkel, Richard S., Siener, C, Morrison, M., Rivera, G., Krueger, J., Manzitti, C., Haliloglu, V. G., Davis, C. S., Kayoko Saito, Zinn, M., Pasternak, A., Martinez Moreno, M. M., Schara, U., Patnaik, S., Alavarez Molinero, M., Liew, W, Rooze, S., Vajsar, J., Tanaka, Y., Connie, W. Y., Johnson, C., Chou, P. C., Camuto, A., De Vivo, Darryl C., Schroth, MK, Spain, T., Wootton, J., Fanelli, L., Léger, P. L., Duong, TT, Sato, T., Son, W. S., Quigley, J., Ortiz-Miller, C., Kirschner, J, Holuba La Marca, N, Ramsey, D., Andres, B., Kichula, E., Szelag, H, Kirschner, J., Deconinck, N., Rausch, N., Wendy, L. W. M., Bertoli, M., Russman, B., Glanzman, Allan M., Verhelst, H., Zimmerman, C., Woodcock, I., Liew, W., Souris, M., Eugenio Mercuri, Sofou, K., Turgeon-Desilet, S., Tacchetti, P., Glanzman, Allan M, Straub, V., Paulose, S, McFall, D., Ross, A, Chiriboga, C. A., Gadeken, R., Mirek, E, Smith, L., Yanagishita, T., Adang, L., Sakamuri, S., Ferreira Sampaio, H. A., Farrow-Gillespie, A., Anand, P., Rippberger, B., Richardson, S., Tennekoon, G., Weimer, L., Tachikawa, T., VanderVeen, G., Shu, F., Hsu, J. H., Poulin, C., Ng, C. S., Gheuens, S., Newcomb, T. M., Chui-San, M. N., Scuplak, S. M., Bradley, W. G., Oskoui, M., Gheuens, Sarah, Virginia, W. C., Gheuens, S, Kimber, E., Janbernd Kirschner, Farwell, W, Verhelst, Helene, Hen, J., Della Marina, A., Kirschner, Janbernd, Kim, S. Y., Saito, K., Wang, H. Y., Goldman, S., Yildirim, M., Kathie Bishop, Frank, A, Tesi Rocha, AC, Smith, E, Shell, R, Claudia A. Chiriboga, Bruno, C., Milleson, C, Bennett, C. Frank, Laine, R., Darras, Basil T, Van Coster, Rudy, Vialle, R., Mayhew, A. G., Farwell, W., Serdaroglu, E., Ghosh, P., Cook, D., Pisco Domingos, J., Ganfuss, A., Constantinescu, A., Schottlaender, L., Lim, A., Palermo, C., Farrar, M., Janas, J., Laurent Servais, Butterfield, R., Vanlander, A., Sanabria, L, Wittevrongel, S., Kuntz, NL, Tahon, V., Jacqueline Montes, Jong, Y. J., Miller, N., Mizuochi, K., Palacios, N. J., Krosschell, K., Taniguchi, N., Kramer, S., Duong, T. T., Chau, V., Borell, S., Zilke, K., Már Tulinius, Ramamurthi, R. J., Ramamurthi, RJ, Mercuri, E., Pane, M., Montes, Jacqueline, Pasternak, A, Jachertz, P., Tizzano, E., Nakatsukasa, H., Nancy L. Kuntz, Koka, A., De Vivo, Darryl C, Stanford, D., Taytard, J., Servais, Laurent, Le Moing, A. G., Mercuri, Eugenio, Schroth, M. K., D'Argenzio, L., Haldenby, R., Gili, G., Cappell, J., Epinosa Garcia, S., Kaburagi, Y., Watson, K, Wittevrongel, Sylvia, Deconinck, Nicolas, Darras, B. T., Khandji, A., Glanzman, AM, Austin, E. D., Connolly, A. M., Sabapathy, C., Lee, J., Chadehumbe, M., Dinunzio, P., Finkel, Richard S, Watson, K., Koka, A, Gee, R., Zhong, Z. John, Pascual Pascual, S. I., Ross, A., Souris, M, Chiriboga, Claudia A, Bodensteriner, JB, Tizzano, Eduardo F., DeArmey, S, Lindstedt, A., Sponemann, N., Wu, Y. C., Davis, CS, Shichiji, M., Tizzano, E, Darras, BT, Darras, Basil T., Van der Looven, Ruth +564 morecore +1 more sourcePrecision medicine in paediatrics: Progress and priorities
British Journal of Clinical Pharmacology, EarlyView.Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker +3 morewiley +1 more sourceDecoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe
British Journal of Clinical Pharmacology, EarlyView.Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin +4 morewiley +1 more sourceClinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study
Clinical Genetics, EarlyView.This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva +31 morewiley +1 more source
