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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology

Autor: Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ, Bakker EB, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J, Netherlands Brain Bank, International Parkinsonism Genetics Network, Ferreira J, Correia Guedes L, Chien HF, Barbosa ER, Merola A, Zibetti M, Lopiano L, Tassorelli C, Pacchetti C, Nappi G, Riboldazzi G, Bono G, Padovani A, Borroni B, Fincati E, Bertolasi L, Tinazzi M, Bonizzato A, Dalla Libera A, Guidi M, Marini P, Massaro F, Marconi R, Onofrj M, Thomas A, Vanacore N, Meco G, Fabbrini G, Fabrizio E, Manfredi M, Berardelli A, Stocchi F, Vacca L, De Mari M, Dell'Aquila C, Iliceto G, Lamberti P, Toni V, Trianni G, Saddi V, Cossu G, Melis M., CORTELLI, PIETRO, CAPELLARI, SABINA

Publikováno v: Brain, 137, 1361-1373
Wong, T H, Chiu, W Z, Breedveld, G J, Li, K W, Verkerk, A J, Hondius, D C, Hukema, R K, Seelaar, H, Frick, P, Severijnen, L A, Lammers, G J, Lebbink, J, van Duinen, S G, Kamphorst, W, Rozemuller, A J M, Bakker, E B, Neumann, M, Willemsen, R, Bonifati, V, Smit, A B & van Swieten, J C 2014, ' PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology ', Brain, vol. 137, no. 5, pp. 1361-1373 . https://doi.org/10.1093/brain/awu067
Brain, 137(5), 1361-1373. Oxford University Press
Brain, 137, 1361-1373. Oxford University Press
Brain: a journal of neurology, 137(Pt 5), 1361-73. Oxford University Press
Brain 137(5), 1361-1373 (2014). doi:10.1093/brain/awu067

Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong and Chiu et al. identify a new familial neurodegenerative disease with intermediate filament

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75fa646b3cfb07151e5070a075e377f
https://doi.org/10.1093/brain/awu067

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Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Autor: Ripke, S, O'Dushlaine, C, Chambert, K, Moran, Jl, Kähler, Ak, Akterin, S, Bergen, Se, Collins, Al, Crowley, Jj, Fromer, M, Kim, Y, Lee, Sh, Magnusson, Pk, Sanchez, N, Stahl, Ea, Williams, S, Wray, Nr, Xia, K, Bettella, F, Borglum, Ad, Bulik Sullivan, Bk, Cormican, P, Craddock, N, Leeuw, De, C, Durmishi, N, Gill, M, Golimbet, V, Hamshere, Ml, Holmans, P, Hougaard, Dm, Kendler, Ks, Lin, K, Morris, Dw, Mors, O, Mortensen, Pb, Neale, Bm, O'Neill, Fa, Owen, Mj, Milovancevic, Mp, Posthuma, D, Powell, J, Richards, Al, Riley, Bp, Ruderfer, D, Rujescu, D, Sigurdsson, E, Silagadze, T, Smit, Ab, Stefansson, H, Steinberg, S, Suvisaari, J, Tosato, Sarah, Verhage, M, Walters, Jt, Multicenter Genetic Studies of Schizophrenia Consortium, Levinson, Df, Gejman, Pv, Laurent, C, Mowry, Bj, O'Donovan, Mc, Pulver, Ae, Schwab, Sg, Wildenauer, Db, Dudbridge, F, Shi, J, Albus, M, Alexander, M, Campion, D, Cohen, D, Dikeos, D, Duan, J, Eichhammer, P, Godard, S, Hansen, M, Lerer, Fb, Liang, Ky, Maier, W, Mallet, J, Nertney, Da, Nestadt, G, Norton, N, Papadimitriou, Gn, Ribble, R, Sanders, Ar, Silverman, Jm, Walsh, D, Williams, Nm, Wormley, B, Psychosis Endophenotypes International Consortium, Arranz, Mj, Bakker, S, Bender, S, Bramon, E, Collier, D, Crespo Facorro, B, Hall, J, Iyegbe, C, Jablensky, A, Kahn, Rs, Kalaydjieva, L, Lawrie, S, Lewis, Cm, Linszen, Dh, Mata, I, Mcintosh, A, Murray, Rm, Ophoff, Ra, Van, Os, J, Walshe, M, Weisbrod, M, Wiersma, D, Wellcome Trust Case Control Consortium 2, Donnelly, P, Barroso, I, Blackwell, Jm, Brown, Ma, Casas, Jp, Corvin, Ap, Deloukas, P, Duncanson, A, Jankowski, J, Markus, Hs, Mathew, Cg, Palmer, Cn, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cc, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, Rd, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Tashakkori Ghanbaria, A, Waller, Mj, Weston, P, Widaa, S, Whittaker, P, Mccarthy, Mi, Stefansson, K, Scolnick, E, Purcell, S, Mccarroll, Sa, Sklar, P, Hultman, Cm, Sullivan, P. F.

Publikováno v: Nature Genetics, 45(10), 1150-1159. Nature Publishing Group
Ripke, S, O'Dushlaine, C, Chambert, K, Moran, J L, Kähler, A K, Akterin, S, Bergen, S E, Collins, A L, Crowley, J J, Fromer, M, Kim, Y, Lee, S H, Magnusson, P K, Sanchez, N, Stahl, E A, Williams, S, Wray, N R, Xia, K, Bettella, F, Borglum, A D, Bulik-Sullivan, B K, Cormican, P, Craddock, N, de Leeuw, C A, Durmishi, N, Gill, M, Golimbet, V, Hamshere, M L, Holmans, P, Hougaard, D M, Kendler, K S, Lin, K, Morris, D W, Mors, O, Mortensen, P B, Neale, B M, O'Neill, F A, Owen, M J, Milovancevic, M P, Posthuma, D, Powell, J, Richards, A L, Riley, B P, Ruderfer, D, Rujescu, D, Sigurdsson, E, Silagadze, T, Smit, A B, Stefansson, H, Steinberg, S, Suvisaari, J, Tosato, S, Verhage, M, Walters, T J, Levinson, D F, Gejman, P V, Laurent, C, Mowry, B J, O'Donovan, M C, Pulver, A E, Schwab, S G, Wildenauer, D B, Dudbridge, F, Shi, J, Albus, M, Alexander, M, Campion, D, Cohen, D, Dikeos, D, Duan, J, Eichhammer, P, Godard, S, Hansen, M, Lerer, F B, Liang, K Y, Maier, W, Mallet, J, Nertney, D A, Nestadt, G, Norton, N, O'Neill, F A, Papadimitriou, G N, Ribble, R, Sanders, A R, Silverman, J M, Wormley, B, Arranz, M J, Bakker, S, Bender, S, Bramon, E, Collier, D, Crespo-Facorro, B, Hall, J, Iyegbe, C, Jablensky, A, Kahn, R S, Kalaydjieva, L, Lawrie, S M, Lewis, C M, Linszen, D H, Mata, I, McIntosh, A, Murray, R M, Ophoff, R A, van Os, J, Walshe, M, Weisbrod, M, Wiersma, D, Donnely, P, Barasso, I, Blackwell, J M, Brown, M A, Casas, J P, Corvin, A P, Deloukas, P, Duncanson, A, Jankowski, J, Markus, H S, Mathew, C G, Palmer, C N, Plomin, R, Rautanen, A, Sawcer, S J, Trembath, R C, Viswanathan, A C, Wood, N W, Spencer, C C, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R D, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, S E, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, S, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, O T, Liddle, J, Potter, S C, Ravindrarajah, R, Ricketts, M, Tashakkori-Ghanbaria, A, Waller, M J, Weston, P, Widaa, S, Whittaker, P, Barrroso, I, McCarthy, M I, Spencer, C C, Stefansson, K, Scolnick, E, Purcell, S, McCarroll, S A, Sklar, P, Hultman, C M & Sullivan, P F 2013, ' Genome-wide association analysis identifies 13 new risk loci for schizophrenia ', Nature Genetics, vol. 45, no. 10, pp. 1150-1159 . https://doi.org/10.1038/ng.2742
Nature genetics, 45(10), 1150-1159. Nature Publishing Group
Nature Genetics, 45(10), 1150-U282. Nature Publishing Group
Ripke, S, O'Dushlaine, C, Chambert, K, Moran, J L, Kähler, A K, Akterin, S, Bergen, S E, Collins, A L, Crowley, J J, Fromer, M, Kim, Y, Lee, S H, Magnusson, P K E, Sanchez, N, Stahl, E A, Williams, S, Wray, N R, Xia, K, Bettella, F, Bulik-Sullivan, B K, Cormican, P, Craddock, N, de Leeuw, C, Durmishi, N, Gill, M, Golimbet, V, Hamshere, M L, Holmans, P, Hougaard, D M, Kendler, K S, Lin, K, Morris, D W, Mors, O, Mortensen, P B, Neale, B M, O'Neill, F A, Owen, M J, Milovancevic, M P, Posthuma, D, Powell, J, Richards, A L, Riley, B P, Ruderfer, D, Rujescu, D, Sigurdsson, E, Silagadze, T, Smit, A B, Stefansson, H, Steinberg, S, Børglum, A & Multicenter Genetic Studies of Schizophrenia Consortium 2013, ' Genome-wide association analysis identifies 13 new risk loci for schizophrenia ', Nature Genetics . https://doi.org/10.1038/ng.2742
Ripke, S, O'Dushlaine, C, Chambert, K, Moran, J L, Kähler, A K, Akterin, S, Bergen, S E, Collins, A L, Crowley, J J, Fromer, M, Kim, Y, Lee, S H, Magnusson, P K E, Sanchez, N, Stahl, E A, Williams, S, Wray, N R, Xia, K, Bettella, F, Borglum, A D, Bulik-Sullivan, B K, Cormican, P, Craddock, N, de Leeuw, C, Durmishi, N, Gill, M, Golimbet, V, Hamshere, M L, Holmans, P, Hougaard, D M, Kendler, K S, Lin, K, Morris, D W, Mors, O, Mortensen, P B, Neale, B M, O'Neill, F A, Owen, M J, Milovancevic, M P, Posthuma, D, Powell, J, Richards, A L, Riley, B P, Ruderfer, D, Rujescu, D, Sigurdsson, E, Silagadze, T, Hall, J & Lawrie, S & McIntosh, A 2013, ' Genome-wide association analysis identifies 13 new risk loci for schizophrenia ', Nature Genetics, vol. 45, no. 10, pp. 1150-9 . https://doi.org/10.1038/ng.2742

To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field. Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ab6ab602c5351fa2e6cf88ebf1ab07
https://research.vu.nl/en/publications/6b6dbab0-5943-46a4-acf1-10e6003c769a

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