Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Sproviero, W."'
Autor:
Newby, D, Winchester, LM, Sproviero, W, Fernandes, M, Ghose, U, Li, QS, Launer, LJ, Nevado-Holgado, AJ
Publikováno v:
Alzheimer's & Dementia. 17
Autor:
Iacoangeli, A., Al Khleifat, A., Jones, A.R., Sproviero, W., Shatunov, A., Opie-Martin, S., Morrison, K.E., Shaw, P.J., Shaw, C.E., Fogh, I., Dobson, R.J., Newhouse, S.J., Al-Chalabi, A.
The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known cause of ALS accounting for ~ 40% familial cases and ~ 7% sporadic cases in the European population. In most people, the repeat length is 2, but in people with ALS, h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::a5a7db119e0da0d8f80a15dc63660978
Autor:
Prieto-Alhambra, D, Bourke, A, Burkard, TS, Burn, E, Costello, RE, Culliford, DJ, Delmestri, A, Duarte-Salles, T, He, Y, John, LH, Kolovos, S, Morales, DR, O'Leary, C, Pinedo-Villanueva, R, Prats-Uribe, A, Reps, J, Robinson, D, Sena, AG, Sproviero, W, Strauss, VY, Williams, RD, Yimer, BB, Yu, D, Ryan, P
Objective\ud Total knee replacement (TKR) is the most effective intervention available for the treatment of severe knee osteoarthritis. A small proportion of patients undergoing TKR are at risk of postoperative complications. We aimed to develop and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::15c430c53a4bde1b03cb4af05e1428c7
Autor:
Al Khleifat, A., Iacoangeli, A., Shatunov, A., Fang, T., Sproviero, W., Jones, A.R., Opie-Martin, S., Morrison, K.E., Shaw, P.J., Shaw, C.E., Powell, J.F., Dobson, R., Newhouse, S.J., Al-Chalabi, A.
BACKGROUND: Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons resulting in progressive paralysis and death, typically within 3-5 years. Although the heritability of ALS is about 60%, only about 11% is explained by common g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::71e6d3a2c6742db96aa1b8a269f47bd6
Autor:
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.
Publikováno v:
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 genetics
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 genetics
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained wit
Autor:
Project, M.A.S.C., van Rheenen, W., Pulit, S.L., Dekker, A.M., Al Khleifat, A., Brands, W.J., Iacoangeli, A., Kenna, K.P., Kavak, E., Kooyman, M., McLaughlin, R.L., Middelkoop, B., Moisse, M., Schellevis, R.D., Shatunov, A., Sproviero, W., Tazelaar, G.H.P., van der Spek, R.A.A., van Doormaal, P.T.C., van Eijk, K.R., van Vugt, J., Basak, A.N., Blair, I.P., Glass, J.D., Hardiman, O., Hide, W., Landers, J.E., Mora, J.S., Morrison, K.E., Newhouse, S., Robberecht, W., Shaw, C.E., Shaw, P.J., van Damme, P., van Es, M.A., Wray, N.R., Al-Chalabi, A., van Den Berg, L.H., Veldink, J.H.
The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun Project MinE, an international
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c5538d9365603c302c0a4ab24d403e2c
https://eprints.whiterose.ac.uk/133970/7/s41431-018-0177-4.pdf
https://eprints.whiterose.ac.uk/133970/7/s41431-018-0177-4.pdf
Autor:
Tazelaar, G.H.P., Dekker, A.M., van Vugt, J.J.F.A., van der Spek, R.A., Westeneng, H.-J., Kool, L.J.B.G., Kenna, K.P., van Rheenen, W., Pulit, S.L., McLaughlin, R.L., Sproviero, W., Iacoangeli, A., Hübers, A., Brenner, D., Morrison, K.E., Shaw, P.J., Shaw, C.E., Panadés, M.P., Mora Pardina, J.S., Glass, J.D., Hardiman, O., Al-Chalabi, A., van Damme, P., Robberecht, W., Landers, J.E., Ludolph, A.C., Weishaupt, J.H., van den Berg, L.H., Veldink, J.H., van Es, M.A., Project MinE ALS Sequencing Consortium, .
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::61b9def76cbbfcdc6c62708eb960f616
Autor:
Consortium, P.M.A.L.S.S., Veldink, J.H., Shaw, P.J., Tazelaar, G.H.P., van Rheenen, W., Pulit, S.L., van der Spek, R., Dekker, A.M., Moisse, M., McLaughlin, R.L., Sproviero, W., Kenna, K.P., Kooyman, M., van Doormaal, P.T.C., van Eijk, K.E., Middelkoop, B.M., Schellevis , R.D., Brands, W.J., Al-Chalabi , A., Morrison, K.E., Newhouse, S.E., Shaw, C.E., van Es, M.A., Nazli Basak, A., Akçimen, F., Kocoglu, C., Tunca, C., Povedano, M., Mora, J.S., Glass , J.D., van Damme, P., Robberecht , W., Hardiman, O., Landers, J.E., van den Berg, L.H.
Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause for ALS. However, the exact pathogenicity a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::90777d1589c2383ec4fd13138bdc3fc3
https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf
https://eprints.whiterose.ac.uk/139462/3/CHCHD10_Manuscript_Annals_v10.0.pdf
Autor:
Tazelaar, GHP, van Rheenen, W, Pulit, SL, van der Spek, RAA, Dekker, AM, Moisse, M, McLaughlin, RL, Sproviero, W, Kenna, KP, Kooyman, M, van Doormaal, PTC, van Eijk, KE, Middelkoop, BM, Schellevis, RD, Brands, WJ, Al-Chalabi, A, Morrison, KE, Shaw, PJ, Shaw, CE, Newhouse, SE, van Es, MA, Basak, AN, Akçimen, F, Kocoglu, C, Tunca, C, Povedano, M, Mora, JS, Glass, JD, Van Damme, P, Robberecht, W, HardimanMD, O, Landers, JE, van den Berg, LH, Veldink, JH
© 2018 American Neurological Association Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6822f0c8d0228b9641fa10e04b8adf79
https://eprints.soton.ac.uk/425106/
https://eprints.soton.ac.uk/425106/
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