المؤلفون: Doummar, D., Treven, M., Qebibo, L., DEVOS, DAVID, Ghoumid, Jamal, Ravelli, C., Kranz, G., Krenn, M., Demailly, D., Cif, L., Davion, J. B., Zimprich, F., Burglen, L., Zech, M.

المساهمون: Université de Lille, CHU Lille, CHU Trousseau APHP, Medizinische Universität Wien = Medical University of Vienna, Lille Neurosciences & Cognition (LilNCog) - U 1172, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Hôpital Gui de Chauliac CHU Montpellier, Service de Neurochirurgie CHRU Montpellier, CIC CHU ( Lille)/inserm, Technische Universität Munchen - Université Technique de Munich Munich, Allemagne TUM

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Annals of Clinical Translational Neurology; Ann Clin Transl Neurol; http://hdl.handle.net/20.500.12210/84168Test

الإتاحة: https://doi.org/20.500.12210/84168Test
https://hdl.handle.net/20.500.12210/84168Test

المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463Test SGUL Authors: Elmslie, Frances

الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://openaccess.sgul.ac.uk/id/eprint/115477Test/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest

المؤلفون: Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, JM, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, CC, Zhang, JH, Li, BY, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, YR, Zhu, DN, Zhang, BH, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, Lopez-Giraldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, MG, Retterer, K, Millan, F, Wang, YG, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, inE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, XY, Amor, DJ, Zarnescu, DC, Lu, QS, Xing, QH, Zhu, CL, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC

المصدر: Nature genetics. 52(10):1046

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:144790969Test

المؤلفون: Gerasimenko, A., Mignot, C., Naggara, O., Coulet, F., Ekram, S., Heide, S., Sorato, C., Mazowiecki, M., Perrin, L., Colas, C., Cusin, V., Caux, F., Dardenne, A., El Chehadeh, S., Verloes, A., Maurey, H., Afenjar, A., Petit, Florence, Barete, S., Boespflug-Tanguy, O., Bourrat, E., Capri, Y., Ciorna, V., Deb, W., Doummar, D., Perrier, A., Guédon, A., Houdart, E., Isidor, B., Jacquemont, M. L., Buffet, C., Mercier, S., Passemard, S., Riquet, A., Ruaud, L., Schaefer, E., Heron, D., Bisdorff, A., Benusiglio, P. R.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: cancer genetics, cerebrovascular disorders, Cowden syndrome, DAVF, dural fistula, genetic predisposition to disease, MRI, PHTS, PTEN

العلاقة: Clin Genet; http://hdl.handle.net/20.500.12210/114220Test

الإتاحة: https://doi.org/20.500.12210/114220Test
https://hdl.handle.net/20.500.12210/114220Test

المؤلفون: Wirth, T., Garone, G., Kurian, M.A., Piton, A., Millan, F., Telegrafi, A., Drouot, N., Rudolf, G., Chelly, J., Marks, W., Burglen, L., Demailly, D., Coubes, P., Castro-Jimenez, M., Joriot, S., Ghoumid, J., Belin, J., Faucheux, J.M., Blumkin, L., Hull, M., Parnes, M., Ravelli, C., Poulen, G., Calmels, N., Nemeth, A.H., Smith, M., Barnicoat, A., Ewenczyk, C., Méneret, A., Roze, E., Keren, B., Mignot, C., Beroud, C., Acosta, F., Nowak, C., Wilson, W.G., Steel, D., Capuano, A., Vidailhet, M., Lin, J.P., Tranchant, C., Cif, L., Doummar, D., Anheim, M.

المصدر: Movement disorders, vol. 37, no. 7, pp. 1547-1554

مصطلحات موضوعية: Dystonia/genetics, Dystonic Disorders/genetics, GTP-Binding Protein alpha Subunits, Gi-Go/genetics, Humans, Movement Disorders/genetics, Parkinsonian Disorders/genetics, Phenotype, GNAO1, dystonia, mutation, phenotypes

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35722775; info:eu-repo/semantics/altIdentifier/eissn/1531-8257; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7700259238450; https://serval.unil.ch/notice/serval:BIB_770025923845Test; urn:issn:0885-3185; https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

الإتاحة: https://doi.org/10.1002/mds.29074Test
https://serval.unil.ch/notice/serval:BIB_770025923845Test
https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.

المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174

الإتاحة: https://doi.org/10.1002/humu.23975Test
http://hdl.handle.net/11568/1071295Test

المؤلفون: Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, HM, Gorman, KM, Vezyroglou, A, Møller, RS, King Frcpch, MD, Hammer, TB, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, JH, Mallick, AA, Sanchis-Juan, A, Basu, A, Raymond, FL, Lynch, BJ, Majumdar Frcpch, A, Stamberger, H, Weckhuysen, S, Sisodiya, SM, Kurian, MA

المصدر: Neurology , 96 (11) e1539-e1550. (2021)

مصطلحات موضوعية: All Epilepsy/Seizures, Developmental disorders, Dystonia

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124148/4/Sisodiya_RHOBTB2%20for%20Neurology%20revisions_March21.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124148/14/Sisodiya_RHOBTB2%20gene%20diagram%20v2_SZ.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124148Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124148/4/Sisodiya_RHOBTB2%20for%20Neurology%20revisions_March21.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124148/14/Sisodiya_RHOBTB2%20gene%20diagram%20v2_SZ.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124148Test/

المؤلفون: Uggenti, C, Lepelley, A, Depp, M, Badrock, AP, Rodero, MP, El-Daher, M-T, Rice, GI, Dhir, S, Wheeler, AP, Dhir, A, Albawardi, W, Frémond, M-L, Seabra, L, Doig, J, Blair, N, Martin-Niclos, MJ, Della Mina, E, Rubio-Roldán, A, García-Pérez, JL, Sproul, D, Rehwinkel, J, Hertzog, J, Boland-Auge, A, Olaso, R, Deleuze, J-F, Baruteau, J, Brochard, K, Buckley, J, Cavallera, V, Cereda, C, De Waele, LMH, Dobbie, A, Doummar, D, Elmslie, F, Koch-Hogrebe, M, Kumar, R, Lamb, K, Livingston, JH, Majumdar, A, Lorenço, CM, Orcesi, S, Peudenier, S, Rostasy, K, Salmon, CA, Scott, C, Tonduti, D, Touati, G, Valente, M, van der Linden, H, Van Esch, H, Vermelle, M, Webb, K, Jackson, AP, Reijns, MAM, Gilbert, N, Crow, YJ

المصدر: Nature Genetics , 52 (12) pp. 1364-1372. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10117723/3/Baruteau_AGS8-9%20main_NG%20resubmission_v4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10117723Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10117723/3/Baruteau_AGS8-9%20main_NG%20resubmission_v4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10117723Test/

المؤلفون: Cif, L, Demailly, D, Lin, J-P, Barwick, KE, Sa, M, Abela, L, Malhotra, S, Chong, WK, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, MW, Applegate, CD, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, JA, Baple, EL, Bhatia, KP, Blanchet, C, Burglen, L, Cambonie, G, Seng, EC, Bastaraud, SC, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, ME, Farrelly, E, Fitzpatrick, DR, Fearon, C, Fieg, EL, Fogel, BL, Forman, EB, Fox, RG, Genomics England Research Consortium, Gahl, WA, Galosi, S, Gonzalez, V, Graves, TD, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, SJ, Hamosh, A, Hully, M, Jansen, S, Jeong, SY, Krier, JB, Krystal, S, Kumar, KR, Laurencin, C, Lee, H, Lesca, G, François, LL, Lynch, T, Mahant, N, Martinez-Agosto, JA, Milesi, C, Mills, KA, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, JR, Pal, S, Pallais, JC, Pavillard, F, Perrigault, P-F, Petersen, AK, Polo, G, Poulen, G, Rinne, T, Roujeau, T, Rogers, C, Roubertie, A, Sahagian, M, Schaefer, E, Selim, L, Selway, R, Sharma, N, Signer, R, Soldatos, AG, Stevenson, DA, Stewart, F, Tchan, M, Undiagnosed Diseases Network, Verma, IC, de Vries, BBA, Wilson, JL, Wong, DA, Zaitoun, R, Zhen, D, Znaczko, A, Dale, RC, de Gusmão, CM, Friedman, J, Fung, VSC, King, MD, Mohammad, SS, Rohena, L, Waugh, JL, Toro, C, Raymond, FL, Topf, M, Coubes, P, Gorman, KM, Kurian, MA

المصدر: Brain , 143 (11) pp. 3242-3261. (2020)

مصطلحات موضوعية: KMT2B, deep brain stimulation (DBS), dystonia, genetics, neurodevelopment

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10117508Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10117508/8/Kurian_KMT2B%20Main_Submitted_R1_Changes%20included.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10117508Test/

المؤلفون: Rice, G, Park, S, Gavazzi, F, Adang, LA, Ayuk, LA, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, de Villemeur, TB, Bley, AE, Blumkin, L, Boespflug-Tanguy, O, Briggs, TA, Brimble, E, Dale, RC, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, af Hagelsrum, GD, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, DA, Lev, D, Levrat, V, Livingston, JH, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Perez-Duenas, B, Popp, B, Rodero, MP, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Vila, MT, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, CJ, Zerem, A, Zweier, C, Zuberi, SM, Orcesi, S, Vanderver, AL, Hur, S, Crow, YJ

المصدر: Human Mutation (2020) (In press).

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10090388Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10090388Test/