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81دورية أكاديمية
المؤلفون: Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V., GOFFRINI, Paola
المساهمون: Dusi, S, Valletta, L, Haack, Tb, Tsuchiya, Y, Venco, P, Pasqualato, S, Goffrini, Paola, Tigano, M, Demchenko, N, Wieland, T, Schwarzmayr, T, Strom, Tm, Invernizzi, F, Garavaglia, B, Gregory, A, Sanford, L, Hamada, J, Bettencourt, C, Houlden, H, Chiapparini, L, Zorzi, G, Kurian, Ma, Nardocci, N, Prokisch, H, Hayflick, S, Gout, I, Tiranti, V.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000329888400002; volume:1; issue:94; firstpage:11; lastpage:22; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11381/2745504Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84891835067; http://dx.doi.org/10.1016/j.ajhg.2013.11.008Test
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82دورية أكاديمية
المؤلفون: Gang, Q., Bettencourt, C., Machado, P.M., Brady, S., Holton, J.L., Pittman, A.M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P.B., Needham, M., Liang, C., Zanoteli, E., de Camargo, L.V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A.B., Hanna, M.G., Houlden, H.
المصدر: Gang, Q., Bettencourt, C., Machado, P.M., Brady, S., Holton, J.L., Pittman, A.M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P.B., Needham, M. , Liang, C., Zanoteli, E., de Camargo, L.V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A.B., Hanna, M.G. and Houlden, H. (2016) Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiology of Aging, 47 . e1-e9.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/33227Test/; full_text_status:public
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83دورية أكاديمية
المؤلفون: Heidari, M., Gerami, S.H., Bassett, B., Graham, R.M., Chua, A.C.G., Aryal, R., House, M.J., Collingwood, J.F., Bettencourt, C., Houlden, H., Ryten, M., Olynyk, J.K., Trinder, D., Johnstone, D.M., Milward, E.A.
المصدر: Heidari, M. , Gerami, S.H., Bassett, B., Graham, R.M., Chua, A.C.G., Aryal, R., House, M.J., Collingwood, J.F., Bettencourt, C., Houlden, H., Ryten, M., Olynyk, J.K. , Trinder, D. , Johnstone, D.M. and Milward, E.A. (2016) Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases. Rare Diseases, 4 (1). e1198458.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/33005Test/; full_text_status:public
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84
المؤلفون: Gonçalo-Marques, J, Cunha, F, Bettencourt, C, Lavado, D, Grupo de estudo da doença invasiva a Haemophilus influenzae na criança
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Infeções por Haemophilus, Criança, Haemophilus influenzae/isolamento & purificação
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3056::51410a4cf3b241c8ea846492eb24bfbcTest
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85
المؤلفون: Gonçalo-Marques, J, Cunha, F, Bettencourt, C, Lavado, D, Grupo de estudo da doença invasiva a Haemophilus influenzae na criança
مصطلحات موضوعية: Infeções por Haemophilus, Criança, Haemophilus influenzae/isolamento & purificação
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1714::51410a4cf3b241c8ea846492eb24bfbcTest
https://hdl.handle.net/10400.26/12716Test -
86دورية أكاديمية
المؤلفون: Bettencourt, C., Yebenes, J.G., Lopez-Sendon, J.L., Shomroni, O., Zhang, X.Q., Qian, S.B., Bakker, I.M.C., Heetveld, S., Ros, R., Quintans, B., Sobrido, M.J., Bevova, M.R., Jain, S., Bugiani, M., Heutink, P., Rizzu, P.
المصدر: Bettencourt , C , Yebenes , J G , Lopez-Sendon , J L , Shomroni , O , Zhang , X Q , Qian , S B , Bakker , I M C , Heetveld , S , Ros , R , Quintans , B , Sobrido , M J , Bevova , M R , Jain , S , Bugiani , M , Heutink , P & Rizzu , P 2015 , ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ' , Cerebellum , vol. 14 , ....
الإتاحة: https://doi.org/10.1007/s12311-014-0643-7Test
https://research.vumc.nl/en/publications/82b5e8f9-9e81-47cd-b3b3-de9b50b58d92Test -
87دورية أكاديميةUltrastructural Characterization of Fresh and Vitrified In Vitro- and In Vivo-Produced Sheep Embryos
المؤلفون: Romão, R, Bettencourt, E, Pereira, RMLN, Marques, C C, Baptista, MC, Barbas, J P, Oliveira, E, Bettencourt, C, Sousa, Mário
المساهمون: Sinowatzt, Fred, Abbott, Louise
العلاقة: Romão, R., Bettencourt, E., Pereira, R. M. L. N., Marques, C. C., Baptista, M. C., Barbas, J. P., . & Sousa, M. (2015). Ultrastructural Characterization of Fresh and Vitrified In Vitro‐and In Vivo‐Produced Sheep Embryos. Anatomia, Histologia, Embryologia.; http://hdl.handle.net/10174/16550Test; rjromao@uevora.pt; emvb@uevora.pt; nd; 206
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88دورية أكاديمية
المؤلفون: Gami, P., Murray, C., Schottlaender, L., Bettencourt, C., Fernandez, E.D.P., Mudanohwo, E., Mizielinska, S., Polke, J.M., Holton, J.L., Isaacs, A.M., Houlden, H., Revesz, T., Lashley, T.
مصطلحات موضوعية: Brain, Humans, Dipeptides, Proteins, DNA-Binding Proteins, DNA Repeat Expansion, Aged, 80 and over, C9orf72 Protein
العلاقة: Acta Neuropathologica, 2015; 130(4):599-601; http://hdl.handle.net/2440/120776Test; Revesz, T. [0000-0003-2501-0259]
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89دورية أكاديمية
المؤلفون: Mencacci, N E, Rubio-Agusti, I, Zdebik, A, Asmus, F, Ludtmann, M H R, Ryten, M, Plagnol, V, Hauser, A K, Bandres-Ciga, S, Bettencourt, C, Forabosco, P, Hughes, D, Soutar, M M, Peall, K, Morris, H R, Trabzuni, D, Tekman, M, Stanescu, H C, Kleta, R, Carecchio, M, Zorzi, G, Nardocci, N, Garavaglia, B, Lohmann, E, Weissbach, A, Klein, C, Hardy, J, Pittman, A M, Foltynie, T, Abramov, A Y, Gasser, T, Bhatia, K P, Wood, N W
العلاقة: Mencacci, N E and Rubio-Agusti, I and Zdebik, A and Asmus, F and Ludtmann, M H R and Ryten, M and Plagnol, V and Hauser, A K and Bandres-Ciga, S and Bettencourt, C and Forabosco, P and Hughes, D and Soutar, M M and Peall, K and Morris, H R and Trabzuni, D and Tekman, M and Stanescu, H C and Kleta, R and Carecchio, M and Zorzi, G and Nardocci, N and Garavaglia, B and Lohmann, E and Weissbach, A and Klein, C and Hardy, J and Pittman, A M and Foltynie, T and Abramov, A Y and Gasser, T and Bhatia, K P and Wood, N W (2015) A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia. American Journal of Human Genetics, 96 (6). pp. 938-47.
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90دورية أكاديمية
المؤلفون: Gang, Q., Bettencourt, C., Machado, P.M., Fox, Z., Brady, S., Healy, E., Parton, M., Holton, J.L., Hilton-Jones, D., Shieh, P.B., Zanoteli, E., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Hanna, M.G., Houlden, H., Needham, M., Mastaglia, F.
المصدر: Gang, Q., Bettencourt, C., Machado, P.M., Fox, Z., Brady, S., Healy, E., Parton, M., Holton, J.L., Hilton-Jones, D., Shieh, P.B., Zanoteli, E., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R.J., Dimachkie, M.M., Mora, M., Mantegazza, R., Zanotti, S., Hanna, M.G., Houlden, H., Needham, M. and Mastaglia, F. (2015) The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiology of Aging, 36 (4). 1766.e1-1766.e3.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/33253Test/; full_text_status:public
