نتائج البحث

1

دورية أكاديمية

Transition from early intervention program to primary school in children with autism spectrum disorder.

المؤلفون: Eapen, V, Grove, R, Aylward, E, Joosten, AV, Miller, SI, Van Der Watt, G, Fordyce, K, Dissanayake, C, Maya, J, Tucker, M, DeBlasio, A

وصف الملف: Electronic-eCollection; application/pdf

العلاقة: World journal of clinical pediatrics; World journal of clinical pediatrics, 2017, 6, (4), pp. 169-175; http://hdl.handle.net/10453/148745Test

الإتاحة: http://hdl.handle.net/10453/148745Test

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النص الكامل

2

دورية أكاديمية

High and low levels of an NTRK2-driven genetic profile affect motor- and cognition-associated frontal gray matter in prodromal Huntington’s disease

المؤلفون: Ciarochi, JA, Liu, J, Calhoun, V, Johnson, H, Misiura, M, Bockholt, HJ, Espinoza, FA, Caprihan, A, Plis, S, Turner, JA, Paulsen, JS, Long, JD, Johnson, HJ, Brashers-Krug, T, Danzer, P, Miller, A, Montross, K, Harrington, D, Westervelt, H, Aylward, E, Rao, S, Moser, DJ, Williams, J, Downing, N, Magnotta, VA, Vaidya, J, O Leary, D, Kim, EY, Kim, JI, Lourens, S, Zhang, Y, Lu, W, Erwin, C, Nance, M, Evans, J, Zschiegner, R, Chiu, E, Loi, S, Chua, P, Raymond, L, Ross, CA, Mallonee, WM, Samii, A, Jones, R, Barker, RA, McCusker, E, Loy, C, Orth, M, Süßmuth, S, Quaid, K, Guttman, M, Perlman, S, Geschwind, MD, Sha, S, Warner, T, Rosser, A, Marshall, F, Panegyres, P, Lee, J, Perlmutter, J, Miedzybrodzka, Z, Craufurd, D, Mazzoni, P, Marder, K, Kumar, R, Wheelock, V, Martin, W, Suchowersky, O, Ahmed, A, De Soriano, I, Shadrick, C, Preston, J, Goh, A, Antonopoulos, S, Komiti, A, Decolongon, J, Fan, M, Coleman, A, Varvaris, M, Ong, M, Yoritomo, N, Suter, G, Freney, EP, Macaraeg, A, Wood-Siverio, C, Factor, SA, Mason, S, Guzman, NV, Griffith, J, McMillan, J

مصطلحات موضوعية: Huntington’s disease, brain-derived neurotrophic factor, independent component analysis, supplementary motor, tropomyosin receptor kinase B

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/285331Test

الإتاحة: https://doi.org/10.17863/CAM.32700Test
https://www.repository.cam.ac.uk/handle/1810/285331Test

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3

دورية أكاديمية

Design optimization for clinical trials in early-stage manifest Huntington's disease.

المؤلفون: Frost, C, Mulick, A, Scahill, RI, Owen, G, Aylward, E, Leavitt, BR, Durr, A, Roos, RAC, Borowsky, B, Stout, JC, Reilmann, R, Langbehn, DR, Tabrizi, SJ, Sampaio, C, TRACK-HD Investigators

وصف الملف: text; image

العلاقة: https://researchonline.lshtm.ac.uk/id/eprint/4370961/1/Design%20optimization%20for%20clinical_GREEN%20AAM.pdfTest; https://researchonline.lshtm.ac.uk/id/eprint/4370961/5/Design%20optimization%20for%20clinical_GREEN%20TAB.pdfTest; https://researchonline.lshtm.ac.uk/id/eprint/4370961/7/Design%20optimization%20for%20clinical_GREEN%20APP.pdfTest; https://researchonline.lshtm.ac.uk/id/eprint/4370961/12/Design%20optimization%20for%20clinical_GREEN%20TAB2.pdfTest; https://researchonline.lshtm.ac.uk/id/eprint/4370961/15/Figure2b%26w.tifTest; https://researchonline.lshtm.ac.uk/id/eprint/4370961/18/Design%20optimization%20for%20clinical_GREEN%20LEG.pdfTest; Frost, C ; Mulick, A ; Scahill, RI; Owen, G; Aylward, E; Leavitt, BR; Durr, A; Roos, RAC; Borowsky, B; Stout, JC; +5 more. Reilmann, R; Langbehn, DR; Tabrizi, SJ; Sampaio, C; TRACK-HD Investigators; (2017) Design optimization for clinical trials in early-stage manifest Huntington's disease. Movement disorders. ISSN 0885-3185 DOI: https://doi.org/10.1002/mds.27122Test

الإتاحة: https://doi.org/10.1002/mds.27122Test
https://researchonline.lshtm.ac.uk/id/eprint/4370961Test/
https://researchonline.lshtm.ac.uk/id/eprint/4370961/1/Design%20optimization%20for%20clinical_GREEN%20AAM.pdfTest
https://researchonline.lshtm.ac.uk/id/eprint/4370961/5/Design%20optimization%20for%20clinical_GREEN%20TAB.pdfTest
https://researchonline.lshtm.ac.uk/id/eprint/4370961/7/Design%20optimization%20for%20clinical_GREEN%20APP.pdfTest
https://researchonline.lshtm.ac.uk/id/eprint/4370961/12/Design%20optimization%20for%20clinical_GREEN%20TAB2.pdfTest
https://researchonline.lshtm.ac.uk/id/eprint/4370961/15/Figure2b%26w.tifTest
https://researchonline.lshtm.ac.uk/id/eprint/4370961/18/Design%20optimization%20for%20clinical_GREEN%20LEG.pdfTest

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4

دورية أكاديمية

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L.G., Hippolyte, L., Hanson, E., Maillard, A.M., Faucett, W.A., Macé, A., Pain, A., Bernier, R., Chawner, S.J., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gérard, M., Goin-Kochel, R.P., Grant, E., Hunter, J.V., Isidor, B., Jacquette, A., Jønch, A.E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C.L., Männik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M.J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J.A., Spence, S.J., Steinman, K.J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E.H., Ledbetter, D.H., van den Bree, M.B., Beckmann, J.S., Spiro, J.E., Reymond, A., Jacquemont, S., Chung, W.K.

المساهمون: Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L.

المصدر: Jama Psychiatry, vol. 73, no. 1, pp. 20-30

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26629640; info:eu-repo/semantics/altIdentifier/eissn/2168-6238; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FA7E8A43283E4; https://serval.unil.ch/notice/serval:BIB_FA7E8A43283ETest; urn:issn:2168-622X; https://serval.unil.ch/resource/serval:BIB_FA7E8A43283E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FA7E8A43283E4Test

الإتاحة: https://doi.org/10.1001/jamapsychiatry.2015.2123Test
https://serval.unil.ch/notice/serval:BIB_FA7E8A43283ETest
https://serval.unil.ch/resource/serval:BIB_FA7E8A43283E.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FA7E8A43283E4Test

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5

دورية أكاديمية

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

المؤلفون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y, Siffredi, V, Thonney, J, Vallée, L, Van Binsbergen, E, Van der Aa, N, Van Haelst, M. M, Vigneron, J, Vincent-Delorme, C, Vittoria, D, Vulto-Van Silfhout, A. T, Witwicki, R. M, Zwolinski, S. A, Bowe, A, Beaudet, A. L, Brewton, C. M, Chu, Z, Dempsey, A. G, Evans, Y. L, Garza, S, Kanne, S. M, Laakman, A. L, Lasala, M. W, Llorens, A. V, Marzano, G, Moss, T. J, Nowell, K. P, Proud, M. B, Chen, Q, Vaughan, R, Berman, J, Blaskey, L, Hines, K, Kessler, S, Khan, S. Y, Qasmieh, S, Bibb, A. L, Paal, A. M, Page, P. Z, Smith-Packard, B, Buckner, R, Burko, J, Cavanagh, A. L, Cerban, B, Snow, A. V, Snyder, L. G, Keehn, R. M, Miller, D. T, Miller, F. K, Olson, J. E, Triantafallou, C, Visyak, N, Atwell, C, Benedetti, M, Fischbach, G. D, Greenup, M, Packer, A, Bukshpun, P, Cheong, M, Dale, C, Gobuty, S. E, Hinkley, L, Jeremy, R. J, Lee, H, Luks, T. L, Marco, E. J, Martin, A. J, McGovern, K. E, Nagarajan, S. S, Owen, J, Paul, B. M, Pojman, N. J, Sinha, T, Swarnakar, V, Wakahiro, M, Alupay, H, Aaronson, B, Ackerman, S, Ankenman, K, Elgin, J, Gerdts, J, Johnson, K, Reilly, B, Shaw, D, Stevens, A, Ward, T, Wenegrat, J, Roberts, T. P. L.

المساهمون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23054248; info:eu-repo/semantics/altIdentifier/wos/WOS:000309961000009; ispartofbook:Journal of Medical Genetics; volume:49; issue:10; firstpage:660; lastpage:668; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11365/960292Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870280744

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101203Test
http://hdl.handle.net/11365/960292Test

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6

دورية أكاديمية

Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: A decade of the PREDICT-HD study

المؤلفون: Paulsen, J. S., Johnson, H. J., Aylward, E. H., Ross, C. A., Williams, J. K., Nance, M. A., Erwin, C. J., Westervelt, H. J., Harrington, D. L., Bockholt, H. J., Zhang, Y., McCusker, E. A., Chiu, E. M., Panegyres, P. K., Cross, S., Ryan, P., Epping, E. A., Preston, J., Goh, A., Antonopoulos, S., Loi, S., Raymond, L., Decolongon, J., Fan, M., Coleman, A., Mallone, W. M., Suter, G., Varvaris, M., Yoritomo, N., Griffith, J., Loy, C., Gunn, D., Guttman, M., Sheinberg, A., Law, A., Quaid, K., Wesson, M., Wojcieszek, J., Perlmutter, J., Barton, S., Smith, S., Barker, R. A., Mason, S., Guzman, N. V., Perlman, S., Clemente, B., Jones, R., Wood-Siverio, C., Factor, S. A., Samii, A., Macaraeg, A., Lee, J., Tedesco, M., Maxwell, B., Kumar, R., Erickson, D., Nickels, B., Marshall, F., Chesire, A., Wodarski, M., Hickey, C., Geschwind, M. D., Sha, S., Satris, G., Ahmed, A., Reece, C., Bura, A., Mourany, L., Pillai, J., Mazzoni, P., Marder, K., Wasserman, P., Craufurd, D., Bek, J., Howard, E., Warner, T., Burrows, M., Orth, M., Süßmuth, S., Barth, K., Trautmann, S., Schwenk, D., Eschenbach, C., Wheelock, V., Kjer, L., Martin, A., Farias, S., Miedzybrodzka, Z., Rae, D., D'Alessandro, M., Suchowersky, O., Chua, P., Komiti, A., Rosas, D., Rosser, Anne Elizabeth, Price, K., Hunt, S., Jankovic, J., Ondo, W., Martin, W., King, P., Wieler, M., Sran, S., de Yébenes, J. G., Dubinsky, R.

مصطلحات موضوعية: Q Science (General), R Medicine (General)

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/62989/1/fnagi-06-00078.pdfTest; Paulsen, J. S., Johnson, H. J., Aylward, E. H., Ross, C. A., Williams, J. K., Nance, M. A., Erwin, C. J., Westervelt, H. J., Harrington, D. L., Bockholt, H. J., Zhang, Y., McCusker, E. A., Chiu, E. M., Panegyres, P. K., Cross, S., Ryan, P., Epping, E. A., Preston, J., Goh, A., Antonopoulos, S., Loi, S., Raymond, L., Decolongon, J., Fan, M., Coleman, A., Mallone, W. M., Suter, G., Varvaris, M., Yoritomo, N., Griffith, J., Loy, C., Gunn, D., Guttman, M., Sheinberg, A., Law, A., Quaid, K., Wesson, M., Wojcieszek, J., Perlmutter, J., Barton, S., Smith, S., Barker, R. A., Mason, S., Guzman, N. V., Perlman, S., Clemente, B., Jones, R., Wood-Siverio, C., Factor, S. A., Samii, A., Macaraeg, A., Lee, J., Tedesco, M., Maxwell, B., Kumar, R., Erickson, D., Nickels, B., Marshall, F., Chesire, A., Wodarski, M., Hickey, C., Geschwind, M. D., Sha, S., Satris, G., Ahmed, A., Reece, C., Bura, A., Mourany, L., Pillai, J., Mazzoni, P., Marder, K., Wasserman, P., Craufurd, D., Bek, J., Howard, E., Warner, T., Burrows, M., Orth, M., Süßmuth, S., Barth, K., Trautmann, S., Schwenk, D., Eschenbach, C., Wheelock, V., Kjer, L., Martin, A., Farias, S., Miedzybrodzka, Z., Rae, D., D'Alessandro, M., Suchowersky, O., Chua, P., Komiti, A., Rosas, D., Rosser, Anne Elizabeth https://orca.cardiff.ac.uk/view/cardiffauthors/A043007A.htmlTest orcid:0000-0002-4716-4753 orcid:0000-0002-4716-4753, Price, K., Hunt, S., Jankovic, J., Ondo, W., Martin, W., King, P., Wieler, M., Sran, S., de Yébenes, J. G. and Dubinsky, R. 2014. Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: A decade of the PREDICT-HD study. Frontiers in Aging Neuroscience 6 , 78. 10.3389/fnagi.2014.00078 https://doi.org/10.3389/fnagi.2014.00078Test file https://orca.cardiff.ac.uk/id/eprint/62989/1/fnagi-06-00078.pdfTest