|
|
Reference
|
|
|
*** Guide to community preventive services: Promoting physical activity: Environmental and policy approaches. Available from: http://www.thecommunityguide.org [updated 2009 February 10]
|
|
|
*** (2014) Guide to clinical preventive services 2014: Recommendations of the U.S. preventive services task force. Rockville, MD: Agency for Health Care Research and Quality, Available from: http://www.ahrq.gov/professionals/clinicians-providers/guidelines-recommendations/guide/index.html [cited June 2014]
|
|
|
*** (2015) Neurens trofinetide successful in proof of concept phase 2 clinical trial in Fragile X syndrome. Washington, DC: National fragile X foundation, National fragile X foundation, Available from: https://fragilex.org/2015/fxs/neurens-trofinetide-successful-in-phase-2-clinical-trial-in-fragile-x-syndrome/ [Accessed 2016 September 23]
|
|
[ 56 ][ GS ]
|
American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders. Washington, DC: DSM Library, 5th ed
|
|
[ CR ] [ PM ] [ EČ ][ 1 ][ GS ]
|
Ascano, M., Mukherjee, N., Bandaru, P., Miller, J.B., Nusbaum, J.D., Corcoran, D.L., Langlois, C., Munschauer, M., Dewell, S., Hafner, M., Williams, Z., Ohler, U., Tuschl, T. (2012) FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature, 492(7429): 382-6
|
|
[ CR ] [ EČ ][ 2 ][ GS ]
|
Bagni, C., Tassone, F., Neri, G., Hagerman, R. (2012) Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. Journal of Clinical Investigation, 122(12): 4314-4322
|
|
[ CR ] [ PM ] [ EČ ][ 1 ][ GS ]
|
Bailey, D.B., Raspa, M., Bishop, E., Holiday, D. (2009) No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics / Pediatrics, 124(2): 527-33
|
|
[ CR ] [ EČ ][ 1 ][ GS ]
|
Bear, M.F., Huber, K.M., Warren, S.T. (2004) The mGluR theory of fragile X mental retardation. Trends in Neurosciences, 27(7): 370-377
|
|
[ GS ]
|
Berry-Kravis, E., Hagerman, R., Visootsak, J., Budimirovic, D., Kaufmann, W., Bear, M., i dr. (2016) Arbaclofen in Fragile X syndrome: Results of phase 3 trials. J Neurodev Disord, An original invited paper, (in press)
|
|
[ CR ] [ EČ ][ GS ]
|
Berry-Kravis, E., Portes, V. D., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L., Barth, G. M., Jaecklin, T., Apostol, G., Raison, F. von (2016) Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Science Translational Medicine, 8(321): 321ra5-321ra5
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Berry-Kravis, E. (2014) Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatric neurology / Pediatr. Neurol., 50(4): 297-302
|
|
|
Budimirovic, D., Haas-Givler, B., Blitz, R., Esler, A., Kaufmann, W., Sudhalter, V., i dr. (2014) Consensus of the Fragile X clinical and research consortium on clinical practices. u: Autism Spectrum Disorder and Fragile X Syndrome, Washington, DC: National Fragile X Foundation, p. 1−15. Available from: http://www.fragilex.org/2014/support-and-resources/fragile-x-syndrome-and-autism-spectrum-disorder-similarities-and-differences/ (accessed 2016 September 23)
|
|
[ GS ]
|
Budimirovic, D., Berry-Kravis, E., Erickson, C., Hall, S., Hessl, D., Reiss, A., i dr. (2016) Updates report on tools to measure outcomes of clinical trials in fragile X syndrome: An invited review. J Neurodev Disord, In press
|
|
[ GS ]
|
Budimirovic, D.B., Phan, D.Q. (2016) Challenges in translating therapeutic frontiers in clinical trials: Where are we now and what’s next?. Madridge J Neuro Sci, 1(1): e1−e3
|
|
[ 1 ][ GS ]
|
Budimirovic, D.B., Subramanian, M. (2016) Neurobiology of autism and intellectual disability: Fragile X syndrome. u: Johnston M.V. [ur.] Neurobiology of Disease, New York: Oxford University Press, p. 375-84
|
|
[ CR ] [ PM ] [ EČ ][ 2 ][ GS ]
|
Budimirovic, D.B., Kaufmann, W.E. (2011) What can we learn about autism from studying fragile X syndrome?. Developmental neuroscience / Dev. Neurosci., 33(5): 379-94
|
|
[ CR ] [ EČ ][ 2 ][ GS ]
|
Budimirovic, D.B., Bukelis, I., Cox, C., Gray, R.M., Tierney, E., Kaufmann, W.E. (2006) Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal. American Journal of Medical Genetics Part A, 140A(17): 1814-1826
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Chen, L., Hadd, A., Sah, S., Filipovic-Sadic, S., Krosting, J., Sekinger, E., Pan, R., Hagerman, P.J., Stenzel, T.T., Tassone, F., Latham, G.J. (2010) An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. Journal of molecular diagnostics, 12(5): 589-600
|
|
[ CR ][ GS ]
|
Choi, C.H., Schoenfeld, B.P., Bell, A.J., Hinchey, J., Rosenfelt, C., Gertner, M.J., Campbell, S.R., Emerson, D., Hinchey, P., Kollaros, M., Ferrick, N.J., Chambers, D.B., Langer, S., Sust, S., Malik, A. (2016) Multiple Drug Treatments That Increase cAMP Signaling Restore Long-Term Memory and Aberrant Signaling in Fragile X Syndrome Models. Frontiers in Behavioral Neuroscience, 10
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Coates, W.C., Lin, M., Clarke, S., Jordan, J., Guth, T., Santen, S.A., Yarris, L.M. (2012) Defining a core curriculum for education scholarship fellowships in emergency medicine. Academic emergency medicine, 19(12): 1411-8
|
|
[ CR ] [ PM ] [ EČ ][ 1 ][ GS ]
|
Coffee, B., Ikeda, M., Budimirovic, D.B., Hjelm, L.N., Kaufmann, W.E., Warren, S.T. (2008) Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. American journal of medical genetics. Part A / Am. J. Med. Genet. A, 146A(10): 1358-67
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Darnell, J.C., van Driesche, S.J., Zhang, C., Hung, K.Y.S., Mele, A., Fraser, C.E., Stone, E.F., Chen, C., Fak, J.J., Chi, S.W., Licatalosi, D.D., Richter, J.D., Darnell, R.B. (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell / Cell, 146(2): 247-61
|
|
[ CR ] [ EČ ][ GS ]
|
Davenport, M.H., Schaefer, T.L., Friedmann, K.J., Fitzpatrick, S.E., Erickson, C.A. (2016) Pharmacotherapy for Fragile X Syndrome: Progress to Date. Drugs, 76(4): 431-445
|
|
[ EČ ][ GS ]
|
de Rubeis, S., He, X., Goldberg, A.P., Poultney, C.S., Samocha, K., Cicek, A.E., i dr. (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 515(7526); 209-15
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., Hagerman, P.J., Stenzel, T.T., Hadd, A.G., Latham, G.J., Tassone, F. (2010) A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clinical chemistry / Clin. Chem., 56(3): 399-408
|
|
[ CR ] [ EČ ][ GS ]
|
Gantois, I., Pop, A.S., de Esch, C.E.F., Buijsen, R.A.M., Pooters, T., Gomez-Mancilla, B., Gasparini, F., Oostra, B.A., D’Hooge, R., Willemsen, R. (2013) Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice. Behavioural Brain Research, 239: 72-79
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Hagerman, R.J., Hagerman, P. (2016) Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nature reviews. Neurology / Nat Rev Neurol, 12(7): 403-12
|
|
[ CR ] [ PM ] [ EČ ][ 1 ][ GS ]
|
Hagerman, R.J., Berry-Kravis, E., Kaufmann, W.E., Ono, M.Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., Picker, J., Gane, L., Tranfaglia, M. (2009) Advances in the treatment of fragile X syndrome. Pediatrics / Pediatrics, 123(1): 378-90
|
|
[ CR ] [ EČ ][ 1 ][ GS ]
|
Henderson, C., Wijetunge, L., Kinoshita, M. N., Shumway, M., Hammond, R. S., Postma, F. R., Brynczka, C., Rush, R., Thomas, A., Paylor, R., Warren, S. T., Vanderklish, P. W., Kind, P. C., Carpenter, R. L., Bear, M. F., Healy, A. M. (2012) Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen. Science Translational Medicine, 4(152): 152ra128-152ra128
|
|
[ CR ] [ PM ] [ EČ ][ 1 ][ GS ]
|
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks, S., Rodgers, L., Stepansky, A., Troge, J. (2012) De novo gene disruptions in children on the autistic spectrum. Neuron / Neuron, 74(2): 285-99
|
|
[ CR ] [ EČ ][ 1 ][ GS ]
|
Jeste, S. S., Geschwind, D. H. (2016) Clinical trials for neurodevelopmental disorders: At a therapeutic frontier. Science Translational Medicine, 8(321): 321fs1-321fs1
|
|
[ EČ ][ GS ]
|
Kaufmann, W.E., Kidd, S.A., Andrews, H.F., Budimirovic, D.B., Esler, A., Haas-Givler, B., i dr. (2015) Autism spectrum disorder in Fragile X syndrome: Characterization using the Fragile X online registry with accessible research database (FORWARD). Pediatrics, Invited an original article, (In press)
|
|
[ 1 ][ GS ]
|
Kaufmann, W.E., Capone, G., Clarke, M., Budimirovic, D.B. (2008) Autism in genetic intellectual disability: Insights into idiopathic autism. u: Zimmerman A.W. [ur.] Autism: Current Theories and Evidence Totowa, New York: Humana Press Inc, p. 81-108
|
|
[ CR ] [ EČ ][ GS ]
|
Kaufmann, W.E., Reiss, A.L. (1999) Molecular and cellular genetics of fragile X syndrome. American Journal of Medical Genetics, 88(1): 11-24
|
|
[ CR ][ GS ]
|
Kemper, A.R., Bailey, D.B. (2009) Pediatricians’ Knowledge of and Attitudes Toward Fragile X Syndrome Screening. Academic Pediatrics, 9(2): 114-117
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Kremer, E.J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S.T., Schlessinger, D., Sutherland, G.R., Richards, R.I. (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science (New York, N.Y.) / Science, 252(5013): 1711-4
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
LaFauci, G., Adayev, T., Kascsak, R., Kascsak, R., Nolin, S., Mehta, P., Brown, W., Dobkin, C. (2013) Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay. Journal of molecular diagnostics, 15(4): 508-17
|
|
|
Lalonde, M. (1974) A new perspective on the health of Canadians. Ottawa: Government of Canada, A working document, Available from http://www.phac-aspc.gc.ca/ph-sp/pube-pubf/perintrod-eng.php [accessed 2016 September 5]
|
|
[ CR ] [ EČ ][ 1 ][ GS ]
|
Marschik, P.B., Sigafoos, J., Kaufmann, W.E., Wolin, T., Talisa, V.B., Bartl-Pokorny, K.D., Budimirovic, D.B., Vollmann, R., Einspieler, C. (2012) Peculiarities in the gestural repertoire: An early marker for Rett syndrome?. Research in Developmental Disabilities, 33(6): 1715-1721
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
McLennan, J.D., Huculak, S., Sheehan, D. (2008) Brief report: pilot investigation of service receipt by young children with autistic spectrum disorders. Journal of autism and developmental disorders / J Autism Dev Disord, 38(6): 1192-6
|
|
[ GS ]
|
Monyak, R.E., Emerson, D., Schoenfeld, B.P., Zheng, X., Chambers, D.B., Rosenfelt, C., i dr. (2016) Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. Mol Psychiatry, In press
|
|
|
National fragile X foundation Testing for Fragile X. Available from: https://fragilex.org/fragile-x/testing
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Nolin, S.L., Glicksman, A., Ersalesi, N., Dobkin, C., Brown, W., Cao, R., Blatt, E., Sah, S., Latham, G.J., Hadd, A.G. (2015) Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genetics in medicine, 17(5): 358-64
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Robertson, E.E., Hall, D.A., McAsey, A.R., O`Keefe, J.A. (2016) Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. Clinical neuropsychologist / Clin Neuropsychol, 30(6): 849-900
|
|
[ CR ][ 1 ][ GS ]
|
Santoro, M.R., Bray, S.M., Warren, S.T. (2012) Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective. Annual Review of Pathology: Mechanisms of Disease, 7(1): 219-245
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Sheridan, S.D., Theriault, K.M., Reis, S.A., Zhou, F., Madison, J.M., Daheron, L., Loring, J.F., Haggarty, S.J. (2011) Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PloS one, 6(10): e26203
|
|
[ GS ]
|
Snape, M., Horrigan, J., Glass, L., Berry-Kravis, E., Hatti, S., Visootsak, J., i dr. (2014) Improving outcome measures for Fragile X syndrome clinical trials: Developmental of Fragile X syndrome specific rating scales. u: Abstracts for Poster Presentations: 17th SSBP International Research Symposium: Developmental trajectories of behavioural phenotypes: Programme Book, New York, 10-13 October 2014, New York, USA: Society for the Study of Behavioral Phenotypes
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Tabolacci, E., Moscato, U., Zalfa, F., Bagni, C., Chiurazzi, P., Neri, G. (2008) Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. European journal of human genetics, 16(12): 1487-98
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell / Cell, 65(5): 905-14
|
|
[ CR ] [ PM ] [ EČ ][ GS ]
|
Vincent, A., Heitz, D., Petit, C., Kretz, C., Oberlé, I., Mandel, J.L. (1991) Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature, 349(6310): 624-6
|
|
|
|
|