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1
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76249116225
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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
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Giannandrea, M., Bianchi, V., Mignogna, M.L., Sirri, A., Carrabino, S., D'Elia, E., Vecellio, M., Russo, S., Cogliati, F., Larizza, L., Ropers, H.H., Tzschach, A., Kalscheuer, V., Oehl-Jaschkowitz, B., Skinner, C., Schwartz, C.E., Gecz, J., Van Esch, H., Raynaud, M., Chelly, J., de Brouwer, A.P., Toniolo, D., D'Adamo, P., Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am. J. Hum. Genet. 86 (2010), 185–195.
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(2010)
Am. J. Hum. Genet.
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Giannandrea, M.1
Bianchi, V.2
Mignogna, M.L.3
Sirri, A.4
Carrabino, S.5
D'Elia, E.6
Vecellio, M.7
Russo, S.8
Cogliati, F.9
Larizza, L.10
Ropers, H.H.11
Tzschach, A.12
Kalscheuer, V.13
Oehl-Jaschkowitz, B.14
Skinner, C.15
Schwartz, C.E.16
Gecz, J.17
Van Esch, H.18
Raynaud, M.19
Chelly, J.20
de Brouwer, A.P.21
Toniolo, D.22
D'Adamo, P.23
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2
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84976440927
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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease
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Lesage, S., Bras, J., Cormier-Dequaire, F., Condroyer, C., Nicolas, A., Darwent, L., Guerreiro, R., Majounie, E., Federoff, M., Heutink, P., Wood, N., Gasser, T., Hardy, J., Tison, F., Singleton, A., Brice, A., Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol. Genet., 1, 2015, 1.
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(2015)
Neurol. Genet.
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, pp. 1
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Lesage, S.1
Bras, J.2
Cormier-Dequaire, F.3
Condroyer, C.4
Nicolas, A.5
Darwent, L.6
Guerreiro, R.7
Majounie, E.8
Federoff, M.9
Heutink, P.10
Wood, N.11
Gasser, T.12
Hardy, J.13
Tison, F.14
Singleton, A.15
Brice, A.16
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3
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84953290571
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RAB39B mutations are a rare finding in Parkinson disease patients
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Lochte, T., Bruggemann, N., Vollstedt, E.J., Krause, P., Domingo, A., Rosales, R., Lee, L.V., Hopfner, F., Westenberger, A., Kuhn, A., Klein, C., Lohmann, K., RAB39B mutations are a rare finding in Parkinson disease patients. Parkinsonism Relat. Disord. 23 (2016), 116–117.
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(2016)
Parkinsonism Relat. Disord.
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, pp. 116-117
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Lochte, T.1
Bruggemann, N.2
Vollstedt, E.J.3
Krause, P.4
Domingo, A.5
Rosales, R.6
Lee, L.V.7
Hopfner, F.8
Westenberger, A.9
Kuhn, A.10
Klein, C.11
Lohmann, K.12
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4
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84958520687
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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease
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Mata, I.F., Jang, Y., Kim, C.H., Hanna, D.S., Dorschner, M.O., Samii, A., Agarwal, P., Roberts, J.W., Klepitskaya, O., Shprecher, D.R., Chung, K.A., Factor, S.A., Espay, A.J., Revilla, F.J., Higgins, D.S., Litvan, I., Leverenz, J.B., Yearout, D., Inca-Martinez, M., Martinez, E., Thompson, T.R., Cholerton, B.A., Hu, S.C., Edwards, K.L., Kim, K.S., Zabetian, C.P., The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. Mol. Neurodegeneration, 10, 2015, 50.
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(2015)
Mol. Neurodegeneration
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, pp. 50
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Mata, I.F.1
Jang, Y.2
Kim, C.H.3
Hanna, D.S.4
Dorschner, M.O.5
Samii, A.6
Agarwal, P.7
Roberts, J.W.8
Klepitskaya, O.9
Shprecher, D.R.10
Chung, K.A.11
Factor, S.A.12
Espay, A.J.13
Revilla, F.J.14
Higgins, D.S.15
Litvan, I.16
Leverenz, J.B.17
Yearout, D.18
Inca-Martinez, M.19
Martinez, E.20
Thompson, T.R.21
Cholerton, B.A.22
Hu, S.C.23
Edwards, K.L.24
Kim, K.S.25
Zabetian, C.P.26
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5
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84919650942
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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology
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Wilson, G.R., Sim, J.C., McLean, C., Giannandrea, M., Galea, C.A., Riseley, J.R., Stephenson, S.E., Fitzpatrick, E., Haas, S.A., Pope, K., Hogan, K.J., Gregg, R.G., Bromhead, C.J., Wargowski, D.S., Lawrence, C.H., James, P.A., Churchyard, A., Gao, Y., Phelan, D.G., Gillies, G., Salce, N., Stanford, L., Marsh, A.P., Mignogna, M.L., Hayflick, S.J., Leventer, R.J., Delatycki, M.B., Mellick, G.D., Kalscheuer, V.M., D'Adamo, P., Bahlo, M., Amor, D.J., Lockhart, P.J., Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology. Am. J. Hum. Genet. 95 (2014), 729–735.
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(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 729-735
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Wilson, G.R.1
Sim, J.C.2
McLean, C.3
Giannandrea, M.4
Galea, C.A.5
Riseley, J.R.6
Stephenson, S.E.7
Fitzpatrick, E.8
Haas, S.A.9
Pope, K.10
Hogan, K.J.11
Gregg, R.G.12
Bromhead, C.J.13
Wargowski, D.S.14
Lawrence, C.H.15
James, P.A.16
Churchyard, A.17
Gao, Y.18
Phelan, D.G.19
Gillies, G.20
Salce, N.21
Stanford, L.22
Marsh, A.P.23
Mignogna, M.L.24
Hayflick, S.J.25
Leventer, R.J.26
Delatycki, M.B.27
Mellick, G.D.28
Kalscheuer, V.M.29
D'Adamo, P.30
Bahlo, M.31
Amor, D.J.32
Lockhart, P.J.33
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