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1
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80155141546
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Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS
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Dejesus-Hernandez M., Desaro P., Johnston A., Ross O.A., Wszolek Z.K., Ertekin-Taner N., Graff-Radford N.R., Rademakers R., Boylan K. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology 2011, 77:1102-1103.
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Dejesus-Hernandez, M.1
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Ross, O.A.4
Wszolek, Z.K.5
Ertekin-Taner, N.6
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80054832080
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., Kouri N., Wojtas A., Sengdy P., Hsiung G.-Y.R., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., Rademakers R. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron 2011, 72:245-256.
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Neuron
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DeJesus-Hernandez, M.1
Mackenzie, I.R.2
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Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
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Adamson, J.10
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Karydas, A.15
Seeley, W.W.16
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Coppola, G.18
Geschwind, D.H.19
Wszolek, Z.K.20
Feldman, H.21
Knopman, D.S.22
Petersen, R.C.23
Miller, B.L.24
Dickson, D.W.25
Boylan, K.B.26
Graff-Radford, N.R.27
Rademakers, R.28
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3
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78649941297
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Exome sequencing reveals VCP mutations as a cause of familial ALS
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Johnson J.O., Mandrioli J., Benatar M., Abramzon Y., Van Deerlin V.M., Trojanowski J.Q., Gibbs J.R., Brunetti M., Gronka S., Wuu J., Ding J., McCluskey L., Martinez-Lage M., Falcone D., Hernandez D.G., Arepalli S., Chong S., Schymick J.C., Rothstein J., Landi F., Wang Y.D., Calvo A., Mora G., Sabatelli M., Monsurrò M.R., Battistini S., Salvi F., Spataro R., Sola P., Borghero G., Galassi G., Scholz S.W., Taylor J.P., Restagno G., Chio A., Traynor B.J., Traynor B.J. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864.
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Johnson, J.O.1
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Trojanowski, J.Q.6
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Mora, G.23
Sabatelli, M.24
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Spataro, R.28
Sola, P.29
Borghero, G.30
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Scholz, S.W.32
Taylor, J.P.33
Restagno, G.34
Chio, A.35
Traynor, B.J.36
Traynor, B.J.37
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4
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80054837386
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J., Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.-M., Kaivorinne A.-L., Holtta-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chi Ú.A., Restagno G., Borghero G., Sabatelli M., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron 2011, 72:257-268.
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Renton, A.E.1
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Sondervan, D.31
Seelaar, H.32
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Halliwell, N.35
Callister, J.B.36
Toulson, G.37
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Snowden, J.40
Mann, D.41
Neary, D.42
Nalls, M.A.43
Peuralinna, T.44
Jansson, L.45
Isoviita, V.-M.46
Kaivorinne, A.-L.47
Holtta-Vuori, M.48
Ikonen, E.49
Sulkava, R.50
Benatar, M.51
Wuu, J.52
Chi Ú, A.53
Restagno, G.54
Borghero, G.55
Sabatelli, M.56
Heckerman, D.57
Rogaeva, E.58
Zinman, L.59
Rothstein, J.D.60
Sendtner, M.61
Drepper, C.62
Eichler, E.E.63
Alkan, C.64
Abdullaev, Z.65
Pack, S.D.66
Dutra, A.67
Pak, E.68
Hardy, J.69
Singleton, A.70
Williams, N.M.71
Heutink, P.72
Pickering-Brown, S.73
Morris, H.R.74
Tienari, P.J.75
Traynor, B.J.76
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5
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79952840023
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Genetics of familial Amyotrophic lateral sclerosis
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Ticozzi N., Tiloca C., Morelli C., Colombrita C., Poletti B., Doretti A., Maderna L., Messina S., Ratti A., Silani V. Genetics of familial Amyotrophic lateral sclerosis. Arch. Ital. Biol 2011, 149:65-82.
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Ticozzi, N.1
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Poletti, B.5
Doretti, A.6
Maderna, L.7
Messina, S.8
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Silani, V.10
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1842483843
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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
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Watts G.D., Wymer J., Kovach M.J., Mehta S.G., Mumm S., Darvish D., Pestronk A., Whyte M.P., Kimonis V.E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat. Genet 2004, 36:377-381.
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Watts, G.D.1
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