المؤلفون: De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W, NURTURE Study Group

المساهمون: D. De Vivo, E. Bertini, K. Swoboda, W. Hwu, T. Crawford, R. Finkel, J. Kirschner, N. Kuntz, J. Parson, M. Ryan, R. Butterfield, H. Topaloglu, T. Ben-Omran, V. Sansone, Y. Jong, F. Shu, J. Staropoli, D. Kerr, A. Sandrock, C. Stebbin, M. Petrillo, G. Braley, K. Johnson, R. Foster, S. Gheuen, I. Bhan, S. Reyna, S. Fradette, W. Farwell, G. NURTURE Study

مصطلحات موضوعية: Spinal muscular atrophy, Clinical trial, Neurofilament, Newborn screening, Nusinersen, Presymptomatic, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/31704158; info:eu-repo/semantics/altIdentifier/wos/WOS:000503318800003; volume:29; issue:11; firstpage:842; lastpage:856; numberofpages:15; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/2434/698667; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075517290

الاتاحة: http://hdl.handle.net/2434/698667
https://doi.org/10.1016/j.nmd.2019.09.007

المؤلفون: De Vivo, DC, Bertini, E, Swoboda, KJ, Hwu, W-L, Crawford, TO, Finkel, RS, Kirschner, J, Kuntz, NL, Parsons, JA, Ryan, MM, Butterfield, RJ, Topaloglu, H, Ben-Omran, T, Sansone, VA, Jong, Y-J, Shu, F, Staropoli, JF, Kerr, D, Sandrock, AW, Stebbins, C, Petrillo, M, Braley, G, Johnson, K, Foster, R, Gheuens, S, Bhan, I, Reyna, SP, Fradette, S, Farwell, W

Relation: pii: S0960-8966(19)31127-7; De Vivo, D. C., Bertini, E., Swoboda, K. J., Hwu, W. -L., Crawford, T. O., Finkel, R. S., Kirschner, J., Kuntz, N. L., Parsons, J. A., Ryan, M. M., Butterfield, R. J., Topaloglu, H., Ben-Omran, T., Sansone, V. A., Jong, Y. -J., Shu, F., Staropoli, J. F., Kerr, D., Sandrock, A. W. ,. Farwell, W. (2019). Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. NEUROMUSCULAR DISORDERS, 29 (11), pp.842-856. https://doi.org/10.1016/j.nmd.2019.09.007.; http://hdl.handle.net/11343/269958

الاتاحة: http://hdl.handle.net/11343/269958

المؤلفون: Berkovic, SF, Staropoli, JF, Carpenter, S, Oliver, KL, Kmoch, S, Anderson, GW, Damiano, JA, Hildebrand, MS, Sims, KB, Cotman, SL, Bahlo, M, Smith, KR, Cadieux-Dion, M, Cossette, P, Jedlickova, I, Pristoupilova, A, Mole, SE, ANCL Gene Discovery Consortium, .

المصدر: Neurology , 87 (6) pp. 579-584. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1504011/1/Mole_Neurology-2016-Berkovic-579-84.pdf; https://discovery.ucl.ac.uk/id/eprint/1504011/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1504011/1/Mole_Neurology-2016-Berkovic-579-84.pdf
https://discovery.ucl.ac.uk/id/eprint/1504011/

المؤلفون: Smith, KR, Damiano, J, Franceschetti, S, Carpenter, S, Canafoglia, L, Morbin, M, Rossi, G, Pareyson, D, Mole, SE, Staropoli, JF, Sims, KB, Lewis, J, Lin, W-L, Dickson, DW, Dahl, H-H, Bahlo, M, Berkovic, SF

Relation: NHMRC/466671; pii: S0002-9297(12)00254-6; Smith, K. R., Damiano, J., Franceschetti, S., Carpenter, S., Canafoglia, L., Morbin, M., Rossi, G., Pareyson, D., Mole, S. E., Staropoli, J. F., Sims, K. B., Lewis, J., Lin, W. -L., Dickson, D. W., Dahl, H. -H., Bahlo, M. & Berkovic, S. F. (2012). Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (6), pp.1102-1107. https://doi.org/10.1016/j.ajhg.2012.04.021.; http://hdl.handle.net/11343/41352

الاتاحة: http://hdl.handle.net/11343/41352

المؤلفون: Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, Seeley WW, Miller BL, Bigio E, Mesulam MM, Bogyo MS, Mackenzie IR, Staropoli JF, Cotman SL, Huang EJ, Gan L, Green AJ

المساهمون: Ward, Me, Chen, R, Huang, Hy, Ludwig, C, Telpoukhovskaia, M, Taubes, A, Boudin, H, Minami, S, Reichert, M, Albrecht, P, Gelfand, Jm, Cruz-Herranz, A, Cordano, C, Alavi, Mv, Leslie, S, Seeley, Ww, Miller, Bl, Bigio, E, Mesulam, Mm, Bogyo, M, Mackenzie, Ir, Staropoli, Jf, Cotman, Sl, Huang, Ej, Gan, L, Green, Aj

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000399009200002; journal:SCIENCE TRANSLATIONAL MEDICINE; https://hdl.handle.net/11567/1120183; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85017554738

الاتاحة: https://hdl.handle.net/11567/1120183

المؤلفون: Cirulli, Et, Lasseigne, Bn, Petrovski, S, Sapp, Pc, Dion, Pa, Leblond, Cs, Couthouis, J, Yf, Lu, Wang, Q, Krueger, Bj, Ren, Z, Keebler, J, Han, Y, Levy, Se, Boone, Be, Wimbish, Jr, Waite, Ll, Jones, Al, Carulli, Jp, Day Williams, Ag, Staropoli, Jf, Xin, Ww, Chesi, A, Raphael, Ar, McKenna Yasek, D, Cady, J, Vianney de Jong, Jm, Kenna, Kp, Smith, Bn, Topp, S, Miller, J, Gkazi, A, Al Chalabi, A, van den Berg, Lh, Veldink, J, Silani, V, Ticozzi, N, Shaw, Ce, Baloh, Rh, Appel, S, Simpson, E, Lagier Tourenne, C, Pulst, Sm, Gibson, S, Trojanowski, Jq, Elman, L, Mccluskey, L, Grossman, M, Shneider, Na, Chung, Wk, Ravits, Jm, Glass, Jd, Sims, Kb, Van Deerlin, Vm, Maniatis, T, Hayes, Sd, Ordureau, A, Swarup, S, Landers, J, Baas, F, Allen, As, Bedlack, Rs, Harper, Jw, Gitler, Ad, Rouleau, Ga, Brown, R, Harms, Mb, Cooper, Gm, Harris, T, Myers, Rm, Goldstein, Db, Soraru', Gianni, Sequencing Consortium, Fals

المساهمون: Other departments, ANS - Amsterdam Neuroscience, Genome Analysis, Human Genetics

المصدر: Science, 347(6229), 1436-1441. American Association for the Advancement of Science

مصطلحات موضوعية: Adult, Male, Risk, Adolescent, Sequence analysis, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Young Adult, TANK-binding kinase 1, Transcription Factor TFIIIA, Sequestosome-1 Protein, Autophagy, medicine, Humans, Exome, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Gene, Genetic Association Studies, Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, Optineurin, Aged, 80 and over, Genetics, Multidisciplinary, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, Sequence Analysis, DNA, Middle Aged, medicine.disease, Genes, Female, Protein Binding

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6005d4ebc97b8f387178b3a7dbb1fe
https://doi.org/10.1126/science.aaa3650

المؤلفون: Smith, KR, Dahl, H-HM, Canafoglia, L, Andermann, E, Damiano, J, Morbin, M, Bruni, AC, Giaccone, G, Cossette, P, Saftig, P, Groetzinger, J, Schwake, M, Andermann, F, Staropoli, JF, Sims, KB, Mole, SE, Franceschetti, S, Alexander, NA, Cooper, JD, Chapman, HA, Carpenter, S, Berkovic, SF, Bahlo, M

Relation: NHMRC/466671; NHMRC/628952; pii: dds558; Smith, K. R., Dahl, H. -H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Groetzinger, J., Schwake, M., Andermann, F., Staropoli, J. F., Sims, K. B., Mole, S. E., Franceschetti, S., Alexander, N. A., Cooper, J. D. ,. Bahlo, M. (2013). Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. HUMAN MOLECULAR GENETICS, 22 (7), pp.1417-1423. https://doi.org/10.1093/hmg/dds558.; http://hdl.handle.net/11343/41365

الاتاحة: http://hdl.handle.net/11343/41365

المؤلفون: Staropoli, JF, Haliw, L, Biswas, S, Garrett, L, Hölter, SM, Becker, L, Skosyrski, S, Da Silva-Buttkus, P, Calzada-Wack, J, Neff, F, Rathkolb, B, Rozman, J, Schrewe, A, Adler, T, Puk, O, Sun, M, Favor, J, Racz, I, Bekeredjian, R, Busch, DH, Graw, J, Klingenspor, M, Klopstock, T, Wolf, E, Wurst, W, Zimmer, A, López, E, Harati, H, Hill, E, Krause, DS, Guide, J, Dragileva, E, Gale, E, Wheeler, VC, Boustany, RM, Brown, DE, Breton, S, Ruether, K, Gailus-Durner, V, Fuchs, H, de Angelis, MH, Cotman, SL

المساهمون: Institut für Medizinische Mikrobiologie, Immunologie und Hygiene

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1181848

الاتاحة: https://mediatum.ub.tum.de/1181848
https://doi.org/10.1371/journal.pone.0038310

المؤلفون: Staropoli JF (AUTHOR), Staropoli, John F (AUTHOR)

المصدر: JAMA: Journal of the American Medical Association. 5/5/2004, Vol. 291 Issue 17, p2138-2138. 1p.

URL: 13029442

المؤلفون: Staropoli JF (AUTHOR), Staropoli, John F (AUTHOR)

المصدر: JAMA: Journal of the American Medical Association. 7/2/2003, Vol. 290 Issue 1, p112-112. 1p.

URL: 10175042

المؤلفون: Staropoli JF (AUTHOR), Staropoli, John F (AUTHOR)

المصدر: JAMA: Journal of the American Medical Association. 5/1/2002, Vol. 287 Issue 17, p2282-2282. 1p.