PUBLICATIONS PROFESSIONNELLES

SYNDROME X FRAGILE :

  • Syndrome de l’X Fragile : Guide ressource pour comprendre et accompagner
    – Gérald Bussy, Caroline Kientz – Publication : octobre 2012 – Cerveau et psycho n°89 – juin 2017 / page 30
    – Gérald Bussy, Collection « Concrétement que faire ? » Edition Tom Pousse à partir du 27 août 2020

FXTAS :

  • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130
  • Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002 Aug;125:1760-71
  • Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ. Fragile X premutation carriers : characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002 Nov-Dec;23(10):1757-66
  • Leehey M, Munhoz RP, Lang A, Brunberg J, Grigsby C, Jacquemont S, Tassone F, Lozano A, Hagerman R. The fragile X premutation presenting as essential tremor. Arch Neurol. 2003 60: 117-21.
  • Fragile X Premutation Tremor / Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates.Am J hum genet; 72(4):869-78
  • S. Jacquemont, F. Farzin, D. Hall, M. Leehey, F. Tassone, L. Gane, L. Zhang, J. Grigsby, T. Jardini, F. Lewin, E. Berry-Kravis, P. J. Hagerman, and R. J. Hagerman. Aging in Individuals with the FMR1 Mutation, American Journal of Mental Retardation 2003, (sous press).
  • Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang Lin, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco C, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population : Initial results from a California family-based study, (sous press).