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1دورية أكاديمية
المؤلفون: Meijer, M, Agirre, E, Kabbe, M, van Tuijn, CA, Heskol, A, Zheng, C, Falcao, AM, Bartosovic, M, Kirby, L, Calini, D, Johnson, MR, Corces, MR, Montine, TJ, Chen, XQ, Chang, HY, Malhotra, D, Castelo-Branco, G
المصدر: Neuron. 110(7):1193
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Bryois, J, Calini, D, Macnair, W, Foo, L, Urich, E, Ortmann, W, Iglesias, VA, Selvaraj, S, Nutma, E, Marzin, M, Amor, S, Williams, A, Castelo-Branco, G, Menon, V, De Jager, P, Malhotra, D
المصدر: Nature neuroscience. 25(8):1104
مصطلحات موضوعية: Medicin och hälsovetenskap
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3مؤتمر
المؤلفون: Calini, D, McNair, W, Agirre, E, Bryois, J, Jakel, S, Kukanja, P, Stokar, N, Ott, V, Foo, LC, Collin, L, Schippling, S, Urich, E, Nutma, E, Marzin, M, Amor, S, Magliozzi, R, Heidari, E, Robinson, MD, Ffrench-Constant, C, Castelo-Branco, G, Williams, A, Malhotra, D
المصدر: MULTIPLE SCLEROSIS JOURNAL. 28(3_SUPPL):504-505
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
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المؤلفون: Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M., Ticozzi, N., Kenna, B.J., Diekstra, F.P., van Rheenen, W., van Eijk, K.R., Jones, A.R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B.N., van Es, M.A., Topp, S.D., Kenna, A., Miller, J.W., Fallini, C., Tiloca, C., McLaughlin, R.L., Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., de Belleroche, J., Baas, F., van der Kooi, A.J., de Visser, M., ten Asbroek, A.L.M.A., Sapp, P.C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J.L., Strom, T.M., Meitinger, T., Morrison, K.E., D'Alfonso, S., Mazzini, L., Comi, G.P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Lauria, G., Williams, K.L., Leigh, P.N., Nicholson, G.A., Blair, I.P., Leblond, C.S., Dion, P.A., Rouleau, G.A., Pall, H., Shaw, P.J., Turner, M.R., Talbot, K., Taroni, F., Boylan, K.B., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., García-Redondo, A., Van Damme, P., Robberecht, W., Chio, A., Gellera, C., Drepper, C., Sendtner, M., Ratti, A., Glass, J.D., Mora, J.S., Basak, N.A., Hardiman, O., Ludolph, A.C., Andersen, P.M., Weishaupt, J.H., Brown, R.H., Al-Chalabi, A., Silani, V., Shaw, C.E., van den Berg, L.H., Veldink, J.H., Landers, J.E.
المساهمون: Medical Research Council (MRC), Human Genetics, Neurology, ANS - Neurodegeneration, SLAGEN Consortium
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature genetics, 48(9), 1037-1042. Nature Publishing Group
Nature Genetics, 48(9), 1037–1042. Nature Publishing Group
Nature geneticsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genomics, Biology, medicine.disease_cause, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Journal Article, Genetics, medicine, Humans, Comparative Study, Exome, Genetic Predisposition to Disease, SLAGEN Consortium, Risk factor, Amyotrophic lateral sclerosis, Gene, Genetic Association Studies, Netherlands, Mutation, Amyotrophic Lateral Sclerosis, Case-control study, 11 Medical And Health Sciences, 06 Biological Sciences, medicine.disease, 3. Good health, NIMA-Related Kinase 1, 030104 developmental biology, RC0346, Case-Control Studies, Medical genetics, Human medicine, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf; text; image/pdf; Print-Electronic
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المؤلفون: Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna Yasek D, McLaughlin RL, Polak M, Asress S, Esteban Pérez J, Muñoz Blanco JL, Simpson M, SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, COMI , GIANCARLO
المساهمون: Smith, Bn, Ticozzi, N, Fallini, C, Gkazi, A, Topp, S, Kenna, Kp, Scotter, El, Kost, J, Keagle, P, Miller, Jw, Calini, D, Vance, C, Danielson, Ew, Troakes, C, Tiloca, C, Al Sarraj, S, Lewis, Ea, King, A, Colombrita, C, Pensato, V, Castellotti, B, de Belleroche, J, Baas, F, ten Asbroek, Al, Sapp, Pc, McKenna Yasek, D, Mclaughlin, Rl, Polak, M, Asress, S, Esteban Pérez, J, Muñoz Blanco, Jl, Simpson, M, Slagen, Consortium, van Rheenen, W, Diekstra, Fp, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Morrison, Ke, Williams, Kl, Nicholson, Ga, Blair, Ip, Dion, Pa, Leblond, C, Rouleau, Ga, Hardiman, O, Veldink, Jh, van den Berg, Lh, Al Chalabi, A, Pall, H, Shaw, Pj, Turner, Mr, Talbot, K, Taroni, F, García Redondo, A, Wu, Z, Glass, Jd, Gellera, C, Ratti, A, Brown RH, Jr, Silani, V, Comi, Giancarlo, Shaw, Ce, Landers, Je
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10495::6daeffcca4d8b64c305b41c71ab61433
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المؤلفون: Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al Chalabi A, Powell J, Silani V, SLAGEN Consortium, Collaborators, Among the collaborators, MONSURRO', Maria Rosaria
المساهمون: Fogh, I, Ratti, A, Gellera, C, Lin, K, Tiloca, C, Moskvina, V, Corrado, L, Sorarù, G, Cereda, C, Corti, S, Gentilini, D, Calini, D, Castellotti, B, Mazzini, L, Querin, G, Gagliardi, S, Del Bo, R, Conforti, Fl, Siciliano, G, Inghilleri, M, Saccà, F, Bongioanni, P, Penco, S, Corbo, M, Sorbi, S, Filosto, M, Ferlini, A, Di Blasio, Am, Signorini, S, Shatunov, A, Jones, A, Shaw, Pj, Morrison, Ke, Farmer, Ae, Van Damme, P, Robberecht, W, Chiò, A, Traynor, Bj, Sendtner, M, Melki, J, Meininger, V, Hardiman, O, Andersen, Pm, Leigh, Np, Glass, Jd, Overste, D, Diekstra, Fp, Veldink, Jh, van Es, Ma, Shaw, Ce, Weale, Me, Lewis, Cm, Williams, J, Brown, Rh, Landers, Je, Ticozzi, N, Ceroni, M, Pegoraro, E, Comi, Gp, D'Alfonso, S, van den Berg, Lh, Taroni, F, Al Chalabi, A, Powell, J, Silani, V, Slagen, Consortium, Collaborators, Among the, Collaborator, Monsurro', Maria Rosaria
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3977::0e196c22b73216ed5001de520812e7fc
http://hdl.handle.net/11591/182013 -
8دورية أكاديمية
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المؤلفون: Pensato, V, Tiloca, C, Corrado, L, Bertolin, C, Sardone, V, Del Bo, R, Calini, D, Mandrioli, J, Lauria, G, Mazzini, L, Querin, G, Ceroni, M, Cantello, R, Corti, S, Castellotti, B, Soldà, G, Duga, S, Comi, Gp, Cereda, C, Sorarù, G, D'Alfonso, S, Taroni, F, Shaw, Ce, Landers, Je, Ticozzi, N, Ratti, A, Gellera, C, Silani, V, Slagen, Consortium
مصطلحات موضوعية: Genetics, Male, media_common.quotation_subject, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, Art, TUBA4A gene, Middle Aged, Article, Female, Humans, Mutation, Tubulin, Neurology, Neurology (clinical), Humanities, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce7c8abb59a8751905bbffec9b4dcb2
https://hdl.handle.net/11380/1237943 -
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المؤلفون: Akimoto, C, Volk, AE, van Blitterswijk, M, Van den Broeck, M, Leblond, CS, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, DC, Just, W, Daoud, H, Angerbauer, S, DeJesus-Hernandez, M, Konno, T, Lloyd-Jani, A, de Carvalho, M, Mouzat, K, Landers, JE, Veldink, JH, Silani, V, Gitler, AD, Shaw, CE, Rouleau, GA, van den Berg, LH, Van Broeckhoven, C, Rademakers, R, Andersen, PM, Kubisch, C
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of medical geneticsمصطلحات موضوعية: Male, medicine.medical_specialty, C9orf72, Internal medicine, Genotype, Motor neurone disease, Methods, Genetics, medicine, Humans, In patient, Genetic Testing, Molecular genetics, Genotyping, Genetics (clinical), Reliability (statistics), Genetic testing, Southern blot, C9orf72 Protein, medicine.diagnostic_test, business.industry, Amyotrophic Lateral Sclerosis, Proteins, Reproducibility of Results, Gold standard (test), Clinical Laboratory Services, Neurology, Frontotemporal Dementia, Female, Human medicine, business
وصف الملف: application/pdf; pdf
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