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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. 2010, 86:185-195.
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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. 2014, 95:729-735.
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Delatycki, M.B.27
Mellick, G.D.28
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Bahlo, M.31
Amor, D.J.32
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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. Neurodegener. 2015, 10:50.
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
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Domingo A., Westenberger A., Lee L.V., Braenne I., Liu T., Vater I., Rosales R., Jamora R.D., Pasco P.M., Cutiongco-Dela Paz E.M., Freimann K., Schmidt T.G., Dressler D., Kaiser F.J., Bertram L., Erdmann J., Lohmann K., Klein C. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). Eur. J. Hum. Genet. 2015, 23:1334-1340.
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Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease
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Yuan L., Deng X., Song Z., Yang Z., Ni B., Chen Y., Deng H. Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease. Neurobiol. Aging 2015, 36(2907):e2911-e2912.
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Yuan, L.1
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