Zobrazeno 1 - 10
of 492
pro vyhledávání: '"Turner Mr"'
Autor:
Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
Publikováno v:
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10862114c06ef9a5b843bbe1b0efa405
https://hdl.handle.net/11585/852152
https://hdl.handle.net/11585/852152
Autor:
van Eijk, Ruben P. A, Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Shaw, Pamela J., Leigh, P. Nigel, Young, Carolyn A., Shaw, Christopher E., Mora, Gabriele, Mandrioli, Jessica, Borghero, Giuseppe, Volanti, Paolo, Diekstra, Frank P., van Rheenen, Wouter, Verstraete, Esther, Eijkemans, Marinus J. C, Veldink, Jan H., Chio, Adriano, Al-Chalabi, Ammar, van den Berg, Leonard H., van Es, Michael A, For UKMND-LiCALS and LITALS Study Group: Allen C, Counsell C, Farrin A, Al-Chalabi A, Dickie B, Kelly J, Leigh PN, Murphy CL, Payan C, Reynolds G, Shaw P, Steen IN, Thornhill M, Waters J, Zajicek J, Shaw PJ, Young CA, Morrison KE, Dhariwal S, Hornabrook R, Savage L, Burn DJ, Khoo TK, Dougherty A, Wijesekera L, Ellis CM, Ali R, O'Hanlon K, Panicker J, Pate L, Ray P, Wyatt L, Copeland L, Ealing J, Hamdalla H, Leroi I, Murphy C, O'Keeffe F, Oughton E, Partington L, Paterson P, Rog D, Sathish A, Sexton D, Smith J, Vanek H, Dodds S, Williams TL, Clarke J, Eziefula C, Howard R, Orrell R, Sidle K, Sylvester R, Barrett W, Merritt C, Talbot K, Turner MR, Whatley C, Williams C, Williams J, Cosby C, Hanemann CO, Imam I, Phillips C, Timings L, Crawford SE, Hewamadduma C, Hibberd R, Hollinger H, McDermott C, Mills G, Rafiq M, Taylor A, Waines E, Walsh T, Addison-Jones R, Birt J, Hare M, Majid T, Tortelli R, D'Errico E, Bartolomei I, Barbarossa E, Depau B, Costantino E, D'Amico E, Uncini A, Manzoli C, Quatrale R, Sette E, Montanari E, Merello M, Zarcone D, Mascolo M, Vignolo M, Messina S, Morelli C, Marinou K, Papetti L, Lunetta C, Gorni K, De Cicco D, Pipia C, Sola P, Georgoulopoulou E, Sagnelli A, Tedeschi, Gioacchino, Oggioni G, Nasuelli N, D'Ascenzo C, Cima V, Aiello M, Rizzi R, Rinaldi E, Luigetti M, Conte A, Torzini A, Greco G, Mutani R, Fuda G, Tommasi MA
Publikováno v:
Neurology
Neurology, 89(18), 1915. Lippincott Williams and Wilkins
van Eijk, R P A, Jones, A, Sproviero, W, Shatunov, A, Shaw, P J, Leigh, P N, Young, C A, Shaw, C E, Mora, G, Mandrioli, J, Borghero, G, Volanti, P, Diekstra, F P, van Rheenen, W, Verstraete, E, Eijkemans, M J C, Veldink, J H, Chio, A, Al-Chalabi, A, van den Berg, L H, van Es, M A 2017, ' Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials ', Neurology, vol. 89, no. 18, pp. 1915-1922 . https://doi.org/10.1212/WNL.0000000000004606
Neurology, 89(18), 1915. Lippincott Williams and Wilkins
van Eijk, R P A, Jones, A, Sproviero, W, Shatunov, A, Shaw, P J, Leigh, P N, Young, C A, Shaw, C E, Mora, G, Mandrioli, J, Borghero, G, Volanti, P, Diekstra, F P, van Rheenen, W, Verstraete, E, Eijkemans, M J C, Veldink, J H, Chio, A, Al-Chalabi, A, van den Berg, L H, van Es, M A 2017, ' Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials ', Neurology, vol. 89, no. 18, pp. 1915-1922 . https://doi.org/10.1212/WNL.0000000000004606
OBJECTIVE\ud \ud To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large cohort of nonresponders.\ud \ud METHODS\ud \ud
Autor:
Varatharaj, A, Thomas, N, Ellul, MA, Davies, NWS, Pollak, TA, Tenorio, EL, Sultan, M, Easton, A, Breen, G, Zandi, MS, Coles, JP, Manji, H, Al-Shahi Salman, R, Menon, DK, Nicholson, TR, Benjamin, LA, Carson, A, Smith, C, Turner, MR, Solomon, T, Kneen, R, Pett, S, Galea, I, Thomas, RH, Michael, BD, Group, CoroNerve Studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::7b5cca73b0e2608fde916f4b027e28e9
https://doi.org/10.1016/s2215-0366(20)30287-x
https://doi.org/10.1016/s2215-0366(20)30287-x
Publikováno v:
Neurology. 95(13)
SOD1 mutations are a frequent cause of autosomal dominant familial amyotrophic lateral sclerosis (fALS).1 The D91A SOD1 variant is unique in its association with an atypical form of autosomal recessive fALS in Scandinavia. ALS has also been described
Autor:
Habibi, R, Hoffman, SJ, Burci, GL, de Campos, TC, Chirwa, D, Cinà, M, Dagron, S, Eccleston-Turner, MR, Forman, L, Gostin, LO, Meier, BM, Negri, S, Ooms, G, Sekalala, S, Taylor, A, Yamin, AE
Publikováno v:
International Organizations Law Review (2020) pp. 1-68
The International Health Regulations (ihr), of which the World Health Organization is custodian, govern how countries collectively promote global health security, including prevention, detection, and response to global health emergencies such as the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fa5e14bee051c1b5d06e5fe42770aef5
https://archive-ouverte.unige.ch/unige:148462
https://archive-ouverte.unige.ch/unige:148462
Autor:
Turner, MR
Publikováno v:
Practical neurology. 19(5)
Autor:
Wei, W, Keogh, MJ, Aryaman, J, Golder, Z, Kullar, PJ, Wilson, I, Talbot, K, Turner, MR, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Sarraj, SA, Morris, CM, Ansorge, O, Jones, NS, Ironside, JW, Chinnery, PF
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Wei, W, Keogh, M J, Aryaman, J, Golder, Z, Kullar, P J, Wilson, I, Talbot, K, Turner, M R, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Sarraj, S A, Morris, C M, Ansorge, O, Jones, N S, Ironside, J W & Chinnery, P F 2018, ' Frequency and signature of somatic variants in 1461 human brain exomes ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0274-3
Wei, W, Keogh, M J, Aryaman, J, Golder, Z, Kullar, P J, Wilson, I, Talbot, K, Turner, M R, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Sarraj, S A, Morris, C M, Ansorge, O, Jones, N S, Ironside, J W & Chinnery, P F 2018, ' Frequency and signature of somatic variants in 1461 human brain exomes ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0274-3
Purpose To systematically study somatic variants arising during development in the human brain across a spectrum of neurodegenerative disorders. Methods In this study we developed a pipeline to identify somatic variants from exome sequencing data in
Autor:
Lewczuk, P, Riederer, P, O'Bryant, SE, Verbeek, MM, Dubois, B, Visser, PJ, Jellinger, KA, Engelborghs, S, Ramirez, A, Parnetti, L, Jack, CR, Teunissen, CE, Hampel, H, Lleo, A, Jessen, F, Glodzik, L, de Leon, MJ, Fagan, AM, Molinuevo, JL, Jansen, WJ, Winblad, B, Shaw, LM, Andreasson, U, Otto, M, Mollenhauer, B, Wiltfang, J, Turner, MR, Zerr, I, Handels, R, Thompson, AG, Johansson, G, Ermann, N, Trojanowski, JQ, Karaca, I, Wagner, H, Oeckl, P, van Doorn, LV, Bjerke, M, Kapogiannis, D, Kuiperij, HB, Farotti, L, Li, Y, Gordon, BA, Epelbaum, S, Vos, SJB, Klijn, CJM, Van Nostrand, WE, Minguillon, C, Schmitz, M, Gallo, C, Mato, AL, Thibaut, F, Lista, S, Alcolea, D, Zetterberg, H, Blennow, K, Kornhuber, J, WFSBP Task Force
Publikováno v:
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The world journal of biological psychiatry 19(4), 244-328 (2017). doi:10.1080/15622975.2017.1375556
Lewczuk, P, O’Bryant, S E, Verbeek, M M, Dubois, B, Visser, P J, Jellinger, K A, Engelborghs, S, Ramirez, A, Parnetti, L, Jack, C R, Teunissen, C E, Hampel, H, Lleó, A, Jessen, F, Glodzik, L, de Leon, M J, Fagan, A M, Molinuevo, J L, Jansen, W J, Winblad, B, Shaw, L M, Andreasson, U, Otto, M, Mollenhauer, B, Wiltfang, J, Turner, M R, Zerr, I, Handels, R, Thompson, A G, Johansson, G, Ermann, N, Trojanowski, J Q, Karaca, I, Wagner, H, Oeckl, P, van Waalwijk van Doorn, L, Bjerke, M, Kuiperij, H B, Farotti, L, Li, Y, Gordon, B A, Epelbaum, S, Vos, S J B, Klijn, C J M, Van Nostrand, W E, Minguillon, C, Schmitz, M & on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence Thibaut 2018, ' Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias : An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry ', World Journal of Biological Psychiatry, vol. 19, no. 4, pp. 244-328 . https://doi.org/10.1080/15622975.2017.1375556
World journal of biological psychiatry
World Journal of Biological Psychiatry, 19, 244-328
World Journal of Biological Psychiatry, 19, 4, pp. 244-328
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The world journal of biological psychiatry 19(4), 244-328 (2017). doi:10.1080/15622975.2017.1375556
Lewczuk, P, O’Bryant, S E, Verbeek, M M, Dubois, B, Visser, P J, Jellinger, K A, Engelborghs, S, Ramirez, A, Parnetti, L, Jack, C R, Teunissen, C E, Hampel, H, Lleó, A, Jessen, F, Glodzik, L, de Leon, M J, Fagan, A M, Molinuevo, J L, Jansen, W J, Winblad, B, Shaw, L M, Andreasson, U, Otto, M, Mollenhauer, B, Wiltfang, J, Turner, M R, Zerr, I, Handels, R, Thompson, A G, Johansson, G, Ermann, N, Trojanowski, J Q, Karaca, I, Wagner, H, Oeckl, P, van Waalwijk van Doorn, L, Bjerke, M, Kuiperij, H B, Farotti, L, Li, Y, Gordon, B A, Epelbaum, S, Vos, S J B, Klijn, C J M, Van Nostrand, W E, Minguillon, C, Schmitz, M & on Behalf of the Members of the WFSBP Task Force Working on this Topic: Peter Riederer, Carla Gallo, Dimitrios Kapogiannis, Andrea Lopez Mato, Florence Thibaut 2018, ' Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias : An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry ', World Journal of Biological Psychiatry, vol. 19, no. 4, pp. 244-328 . https://doi.org/10.1080/15622975.2017.1375556
World journal of biological psychiatry
World Journal of Biological Psychiatry, 19, 244-328
World Journal of Biological Psychiatry, 19, 4, pp. 244-328
In the 12 years since the publication of the first Consensus Paper of the WFSBP on biomarkers of neurodegenerative dementias, enormous advancement has taken place in the field, and the Task Force takes now the opportunity to extend and update the ori
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::229c0c87fbb9a9f4317a911b71ed52e6
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3677
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3677
Publikováno v:
In Clinical Medicine June 2011 11(3):292-293
Autor:
de Carvalho, Mamede, Kiernan, Matthew C., Pullman, Seth L, Rezania, Kourosh, Turner, MR, Simmons, Zachary
Publikováno v:
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; 2020 Supplement, Vol. 21, p11-17, 7p