المؤلفون: Gautier, O, Blum, JA, Maksymetz, J, Chen, D, Schweingruber, C, Mei, I, Hermann, A, Hackos, DH, Hedlund, E, Ravits, J, Gitler, AD

المصدر: Neuron. 111(23):3739-3741

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154508560

المؤلفون: Lee, T, Li, YR, Ingre, C, Weber, M, Grehl, T, Gredal, O, de Carvalho, M, Meyer, T, Tysnes, OB, Auburger, G, Gispert, S, Bonini, NM, Andersen, PM, Gitler, AD

المصدر: Human molecular genetics. 20(9):1697-1700

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122372809

المؤلفون: Couthouis, J, Hart, MP, Shorter, J, DeJesus-Hernandez, M, Erion, R, Oristano, R, Liu, AX, Ramos, D, Jethava, N, Hosangadi, D, Epstein, J, Chiang, A, Diaz, Z, Nakaya, T, Ibrahim, F, Kim, HJ, Solski, JA, Williams, KL, Mojsilovic-Petrovic, J, Ingre, C, Boylan, K, Graff-Radford, NR, Dickson, DW, Clay-Falcone, D, Elman, L, McCluskey, L, Greene, R, Kalb, RG, Lee, VMY, Trojanowski, JQ, Ludolph, A, Robberecht, W, Andersen, PM, Nicholson, GA, Blair, IP, King, OD, Bonini, NM, Van Deerlin, V, Rademakers, R, Mourelatos, Z, Gitler, AD

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 108(52):20881-20890

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123783914

المؤلفون: Finkbeiner, Steven, Kim, H-J, Raphael, AR, LaDow, ES, McGurk, L, Weber, RA, Trojanowski, JQ, Lee, VM-Y, Gitler, AD, Bonini, NM

URL الوصول: https://escholarship.org/uc/item/7gr7n6sv

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: 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 genetics

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b956165adffc96021c985bf49b25688
https://hdl.handle.net/10451/51170

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