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Accueil Tous les numéros Volume 21 / Numéro 11 (Novembre 2005) Med Sci (Paris), 21 11 (2005) 947-953 Références
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Numéro
Med Sci (Paris)
Volume 21, Numéro 11, Novembre 2005
Page(s) 947 - 953
Section M/S revues
DOI https://doi.org/10.1051/medsci/20052111947
Publié en ligne 15 novembre 2005
  1. Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet 2005; 6 : 46–57. [Google Scholar]
  2. Hagerman RJ, Silverman AC. Fragile X syndrome : diagnosis, treatment, and research. Baltimore : Johns Hopkins University Press, 1991; XIV : 378 p. [Google Scholar]
  3. Fisch GS, Simensen R, Tarleton J, et al. Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males : a prospective multicenter analysis. Am J Med Genet 1996; 64 : 356–61. [Google Scholar]
  4. Irwin SA, Galvez R, Greenough WT. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 2000; 10 : 1038–44. [Google Scholar]
  5. Hagerman PJ, Hagerman RJ. The fragile-X premutation : a maturing perspective. Am J Hum Genet 2004; 74 : 805–16. [Google Scholar]
  6. Bardoni B, Mandel JL. Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev 2002; 12 : 284–93. [Google Scholar]
  7. Zalfa F, Giorgi M, Primerano B, et al. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell 2003; 112 : 317–27. [Google Scholar]
  8. Ishizuka A, Siomi MC, Siomi H. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev 2002; 16 : 2497–508. [Google Scholar]
  9. Schenck A, Bardoni B, Langmann C, et al. CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 2003; 38 : 887–98. [Google Scholar]
  10. Billuart P, Chelly J. From fragile X mental retardation protein to Rac1 GTPase : new insights from Fly CYFIP. Neuron 2003; 38 : 843–5. [Google Scholar]
  11. Bienvenu T, Poirier K, Friocourt G, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002; 11 : 981–91. [Google Scholar]
  12. Poirier K, Van Esch H, Friocourt G, et al. Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res 2004; 122 : 35–46. [Google Scholar]
  13. Nasrallah IM, Minarcik JC, Golden JA. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol 2004; 167 : 411–6. [Google Scholar]
  14. Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002; 24 : 266–8. [Google Scholar]
  15. Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32 : 359–69. [Google Scholar]
  16. Mandel JL, Chelly J. Monogenic X-linked mental retardation : is it as frequent as currently estimated ? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004; 12 : 689–93. [Google Scholar]
  17. Billuart P, Bienvenu T, Ronce N, et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998; 392 : 923–6. [Google Scholar]
  18. Bergmann C, Zerres K, Senderek J, et al. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 2003; 126 : 1537–44. [Google Scholar]
  19. Philip N, Chabrol B, Lossi AM, et al. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet 2003; 40 : 441–6. [Google Scholar]
  20. Des Portes V, Boddaert N, Sacco S, et al. Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. Am J Med Genet 2004; 124A : 364–71. [Google Scholar]
  21. Zanni G, Saillour Y, Nagara M, et al. OPHN1 mutations are a frequent cause of X-linked mental retardation with cerebellar hypoplasia. Neurology 2005 (sous presse). [Google Scholar]
  22. Mostofsky SH, Mazzocco MM, Aakalu G, et al. Decreased cerebellar posterior vermis size in fragile X syndrome : correlation with neurocognitive performance. Neurology 1998; 50 : 121–30. [Google Scholar]
  23. Kaufmann WE, Cooper KL, Mostofsky SH, et al. Specificity of cerebellar vermian abnormalities in autism : a quantitative magnetic resonance imaging study. J Child Neurol 2003; 18 : 463–70. [Google Scholar]
  24. Govek EE, Newey SE, Akerman CJ, et al. The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci 2004; 7 : 364–72. [Google Scholar]
  25. Luo L. Rho GTPases in neuronal morphogenesis. Nat Rev Neurosci 2000; 1 : 173–80. [Google Scholar]
  26. Renieri A, Pescucci C, Longo I, et al. Non-syndromic X-linked mental retardation : from a molecular to a clinical point of view. J Cell Physiol 2005; 240 : 8–20. [Google Scholar]

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