|
Reference
|
|
Abekhoukh, S., Bardoni, B. (2007) CYFIP family proteins between autism and intellectual disability: Links with Fragile X syndrome. u: Neural and Synaptic Defects in Autism Spectrum Disorders, 73
|
|
Adayev, T., la Fauci, G., Dobkin, C., Caggana, M., Wiley, V., Field, M., Wotton, T., Kascsak, R., Nolin, S.L., Glicksman, A. (2014) Fragile X protein in newborn dried blood spots. BMC Medical Genetics, 15(1): 119
|
118
|
American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders. Washington, DC, 5th ed
|
|
Ascano, M., Mukherjee, N., Bandaru, P., Miller, J.B., Nusbaum, J.D., Corcoran, D.L., Langlois, C., Munschauer, M., Dewell, S., Hafner, M. (2012) FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature, 492(7429): 382-6
|
2
|
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
|
1
|
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, 124(2): 527-33
|
|
Baio, J. (2012) Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network. Morbidity and Mortality Weekly Report, 61: 3
|
1
|
Bassell, G.J., Warren, S.T. (2008) Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron, 60(2): 201-14
|
1
|
Bear, M.F., Huber, K.M., Warren, S.T. (2004) The mGluR theory of fragile X mental retardation. Trends in neurosciences, 27(7): 370-7
|
|
Berry-Kravis, E., Rubin, J., Harary, E., Daniely, Y. (2015) A 6-week, DBPC, randomized study of MDX (Metadoxine ER) compared to placebo in adolescents and adults with Fragule X. u: Poster at the 62nd AACAP meeting, San Antonio, TX
|
|
Berry-Kravis, E., Portes, V. D., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L. (2016) Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Science Translational Medicine, 8(321): 321ra5-321ra5
|
|
Berry-Kravis, E., Hessl, D., Coffey, S., Hervey, C., Schneider, A., Yuhas, J., Hutchison, J., Snape, M., Tranfaglia, M., Nguyen, D.V. (2009) A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. Journal of medical genetics, 46(4): 266-71
|
|
Berry-Kravis, E., Sumis, A., Hervey, C., i dr. (2008) Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. Journal of Developmental & Behavioral Pediatrics, 29(4); 293-302
|
|
Berry-Kravis, E., Visootsak, J., Hagerman, R., i dr. (2014) Arbaclofen in fragile X syndrome: Results of phase 3 trials. Annals of neurology, 76: 174
|
|
Berry-Kravis, E.M., Hessl, D., Rathmell, B., Zarevics, P., Cherubini, M., Walton-Bowen, K., Mu, Y., Nguyen, D.V., Gonzalez-Heydrich, J., Wang, P.P. (2012) Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial. Science Translational Medicine, 4(152): 152ra127-152ra127
|
|
Berry-Kravis, E., Hessl, D., Abbeduto, L., Reiss, A.L., Beckel-Mitchener, A., Urv, T.K. (2013) Outcome Measures for Clinical Trials in Fragile X Syndrome. Journal of Developmental & Behavioral Pediatrics, 34(7): 508-522
|
|
Berry-Kravis, E., Krause, S.E., Block, S.S., Guter, S., Wuu, J., Leurgans, S., Decle, P., Potanos, K., Cook, E., Salt, J. (2006) Effect of CX516, an AMPA-Modulating Compound, on Cognition and Behavior in Fragile X Syndrome: AControlled Trial. Journal of Child and Adolescent Psychopharmacology, 16(5): 525-540
|
|
Brock, M., Hatton, D. (2010) Distinguishing features of autism in boys with fragile X syndrome. Journal of intellectual disability research, 54(10): 894-905
|
|
Budimirovic, D., Haas-Givler, B., Blitz, R., i dr. (2014) Consensus of the Fragile X clinical and research consortium on clinical practices. u: Autism Spectrum Disorder and Fragile X Syndrome, National Fragile X Foundation, Website, p. 1-15
|
2
|
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
|
2
|
Budimirovic, D.B., Kaufmann, W.E. (2011) What can we learn about autism from studying fragile X syndrome?. Developmental neuroscience, 33(5): 379-94
|
|
Budimirović, 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, 2nd ed. Chapter 52 (375-384)
|
|
Çaku, A., Pellerin, D., Bouvier, P., Riou, E., Corbin, F. (2014) Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open label study. American Journal of Medical Genetics Part A, 164(11); 2834-42
|
|
Cao, Z., Hulsizer, S., Tassone, F., i dr. (2012) Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Human molecular genetics, 21(13); 2923-35
|
1
|
Castrén, M., Lampinen, K.E., Miettinen, R., Koponen, E., Sipola, I., Bakker, C.E., Oostra, B.A., Castrén, E. (2002) BDNF regulates the expression of fragile X mental retardation protein mRNA in the hippocampus. Neurobiology of disease, 11(1): 221-9
|
1
|
Castrén, M.L. (2016) Cortical neurogenesis in fragile X syndrome. Frontiers in Bioscience, 8(1): 160-168
|
|
Chen, E., Sharma, M.R., Shi, X., Agrawal, R.K., Joseph, S. (2014) Fragile X mental retardation protein regulates translation by binding directly to the ribosome. Molecular cell, 54(3): 407-17
|
|
Chen, L., Hadd, A.G., Sah, S., i dr. (2011) High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genetics in Medicine, 13(6); 528-38
|
|
Chen, L., Hadd, A., Sah, S., i dr. (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
|
|
Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S.W., Laird, M., Mu, Y., Tassone, F., Nguyen, D.V., Hagerman, R.J. (2012) Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Human genetics, 131(4): 581-9
|
1
|
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, 146A(10): 1358-1367
|
1
|
Cordeiro, L., Ballinger, E., Hagerman, R., Hessl, D. (2011) Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. Journal of Neurodevelopmental Disorders, 3(1): 57-67
|
|
Darnell, J.C. (2005) Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes & Development, 19(8): 903-918
|
|
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. (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell, 146(2): 247-61
|
1
|
de Diego-Otero, Y., Romero-Zerbo, Y., el Bekay, R., Decara, J., Sanchez, L., Rodriguez-de, F.F., del Arco-Herrera, I. (2009) Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency. Neuropsychopharmacology, 34(4): 1011-26
|
|
de Rubeis, S., Xin, H., Goldberg, A.P., i dr. (2014) Homozygosity Mapping Collaborative. Nature, 515(7526); 209
|
|
de Sonia, A., Visootsak, J., Smith, M., i dr. (2004) FXCRC analysis of arbaclofen responses in fragile X syndrome. u: The 14th International Fragile X Conference, Orange County, CA, Proceedings of
|
|
Dölen, G., Bear, M.F. (2005) Courting a cure for fragile X. Neuron, 45(5): 642-4
|
|
Dziembowska, M., Pretto, D.I., Janusz, A., Kaczmarek, L., Leigh, M.J., Gabriel, N., Durbin-Johnson, B., Hagerman, R.J., Tassone, F. (2013) High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. American Journal of Medical Genetics Part A, 161(8): 1897-1903
|
|
Eberhart, D.E., Malter, H.E., Feng, Y., Warren, S.T. (1996) The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Human molecular genetics, 5(8): 1083-91
|
|
Erickson, C.A., Weng, N., Weiler, I.J., i dr. (2011) Open-label riluzole in fragile X syndrome. Brain research, 1380: 264-70
|
1
|
Erickson, C.A., Ray, B., Maloney, B., Wink, L.K., Bowers, K., Schaefer, T.L., McDougle, C.J., Sokol, D.K., Lahiri, D.K. (2014) Impact of acamprosate on plasma amyloid-β precursor protein in youth: A pilot analysis in fragile X syndrome-associated and idiopathic autism spectrum disorder suggests a pharmacodynamic protein marker. Journal of Psychiatric Research, 59: 220-228
|
|
Erickson, C.A., Wink, L.K., Ray, B., Early, M.C., Stiegelmeyer, E., Mathieu-Frasier, L., Patrick, V., Lahiri, D.K., McDougle, C.J. (2013) Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. Psychopharmacology, 228(1): 75-84
|
|
Fatemi, S., Folsom, T.D., Kneeland, R.E., Yousefi, M.K., Liesch, S.B., Thuras, P.D. (2013) Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase,. Molecular Autism, 4(1): 21
|
|
Fatemi, S.H., Kneeland, R.E., Liesch, S.B., Folsom, T.D. (2010) Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophrenia research, 124(1-3); 246
|
|
Feng, Y., Absher, D., Eberhart, D.E., Brown, V., Malter, H.E., Warren, S.T. (1997) FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Molecular cell, 1(1): 109-18
|
|
Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P.J., Tassone, F. (2009) Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of molecular diagnostics, 11(4): 324-9
|
|
Folsom, T.D., Thuras, P.D., Fatemi, S. (2015) Protein expression of targets of the FMRP regulon is altered in brains of subjects with schizophrenia and mood disorders. Schizophrenia research, 165(2-3): 201-11
|
|
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 Rudi,, Willemsen, R. (2013) Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice. Behavioural Brain Research, 239: 72-79
|
|
Garcia-Arocena, D., Hagerman, P.J. (2010) Advances in understanding the molecular basis of FXTAS. Human Molecular Genetics, 19(R1): R83-R89
|
|
Gholizadeh, S., Halder, S.K., Hampson, D.R. (2015) Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain. Brain Research, 1596: 22-30
|
|
Gkogkas, C.G., Khoutorsky, A., Cao, R., Jafarnejad, S.M., Prager-Khoutorsky, M., Giannakas, N., Kaminari, A., Fragkouli, A., Nader, K., Price, T.J. (2014) Pharmacogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses fragile X syndrome-like phenotypes. Cell reports, 9(5): 1742-55
|
|
Hagerman, P.J. (2008) The fragile X prevalence paradox. Journal of medical genetics, 45(8): 498-9
|
|
Hagerman, R., Hagerman, P. (2013) Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurology, 12(8): 786-798
|
|
Hagerman, R.J., Ono, M.Y., Hagerman, P.J. (2005) Recent advances in fragile X: a model for autism and neurodegeneration. Current opinion in psychiatry, 18(5): 490-6
|
|
Hagerman, R.J., Berry-Kravis, E., Kaufmann, W.E., Ono, M.Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J. (2009) Advances in the treatment of fragile X syndrome. Pediatrics, 123(1): 378-90
|
|
Henderson, C., Wijetunge, L., Kinoshita, M.N., Shumway, M., Hammond, R.S., Postma, F.R., Brynczka, C., Rush, R., Thomas, A., Paylor, R. (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
|
|
Hess, L.G.B.S. (2014) Effects of sertraline treatment for young children with fragile X syndrome: Examination of developmental outcomes and family contexts. M.S. DISSERTATION; p.101-3
|
|
Hinton, R., Budimirovic, D.B., Marschik, P.B., Talisa, V.B., Einspieler, C., Gipson, T., Johnston, M.V. (2013) Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders. Developmental neurorehabilitation, 16(1): 58-66
|
|
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y., Narzisi, G., Leotta, A. (2012) De novo gene disruptions in children on the autistic spectrum. Neuron, 74(2): 285-99
|
|
Jacquemont, S., Curie, A., Portes, V. des, Torrioli, M.G., Berry-Kravis, E., Hagerman, R.J., Ramos, F.J., Cornish, K., He, Y., Paulding, C. (2011) Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056. Science Translational Medicine, 3(64): 64ra1-64ra1
|
1
|
Jacquemont, S., Berry-Kravis, E., Hagerman, R., von Raison, F., Gasparini, F., Apostol, G., Ufer, M., Des, P.V., Gomez-Mancilla, B. (2014) The challenges of clinical trials in fragile X syndrome. Psychopharmacology, 231(6): 1237-50
|
|
Jeste, S.S., Geschwind, D.H. (2016) Clinical trials for neurodevelopmental disorders: At a therapeutic frontier. Science translational medicine, 8(321): 321fs1
|
|
Kaufmann, W.E., Reiss, A.L. (1999) Molecular and cellular genetics of fragile X syndrome. American journal of medical genetics, 88(1): 11-24
|
1
|
Kaufmann, W.E., Moser, H.W. (2000) Dendritic anomalies in disorders associated with mental retardation. Cerebral cortex, 10(10): 981-91
|
|
Kaufmann, W.E., Capone, G., Clarke, M., Budimirović, D.B. (2008) Autism in genetic intellectual disability: Insights into idiopathic autism. u: Aimmerman A.W. [ur.] Autism: Current theories and evidence, Totowa, NJ: Humana Press Inc, p. 81-108
|
|
Kesler, S.R., Lightbody, A.A., Reiss, A.L. (2009) Cholinergic dysfunction in fragile X syndrome and potential intervention: A preliminary 1 H MRS study. American Journal of Medical Genetics Part A, 149A(3): 403-407
|
|
Klaiman, C., Quintin, E.M., Jo, B., i dr. (2014) Longitudinal profiles of adaptive behavior in fragile X syndrome. Pediatrics
|
|
Kovács, T., Kelemen, O., Kéri, S. (2013) Decreased fragile X mental retardation protein (FMRP) is associated with lower IQ and earlier illness onset in patients with schizophrenia. Psychiatry research, 210(3): 690-3
|
|
la Fauci, 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
|
1
|
Lauterborn, J.C., Rex, C.S., Kramár, E., Chen, L.Y., Pandyarajan, V., Lynch, G., Gall, C.M. (2007) Brain-derived neurotrophic factor rescues synaptic plasticity in a mouse model of fragile X syndrome. Journal of neuroscience, 27(40): 10685-94
|
|
Lavelle, T.A., Weinstein, M.C., Newhouse, J.P., Munir, K., Kuhlthau, K.A., Prosser, L.A. (2014) Economic Burden of Childhood Autism Spectrum Disorders. Pediatrics, 133(3): e520-e529
|
|
Lee, E.K., Kim, H.H., Kuwano, Y., Abdelmohsen, K., Srikantan, S., Subaran, S.S., Gleichmann, M., Mughal, M.R., Martindale, J.L., Yang, X. (2010) hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies. Nature Structural & Molecular Biology, 17(6): 732-739
|
|
Leigh, M.J.S., Nguyen, D.V., Mu, Y., Winarni, T.I., Schneider, A., Chechi, T., Polussa, J., Doucet, P., Tassone, F., Rivera, S.M. (2013) A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. Journal of developmental and behavioral pediatrics, 34(3): 147-55
|
|
Loesch, D.Z., Huggins, R.M., Hagerman, R.J. (2004) Phenotypic variation and FMRP levels in fragile X. Mental retardation and developmental disabilities research reviews, 10(1): 31-41
|
|
Lozano, R., Hagerman, R.J., Duyzend, M., Budimirovic, D.B., Eichler, E.E., Tassone, F. (2014) Genomic studies in fragile X premutation carriers. Journal of Neurodevelopmental Disorders, 6(1): 27
|
|
Ludwig, A.L., Espinal, G.M., Pretto, D.I., Jamal, A.L., Arque, G., Tassone, F., Berman, R.F., Hagerman, P.J. (2014) CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Human Molecular Genetics, 23(12): 3228-3238
|
1
|
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
|
|
McKinney, B.C., Grossman, A.W., Elisseou, N.M., Greenough, W.T. (2005) Dendritic spine abnormalities in the occipital cortex of C57BL/6Fmr1 knockout mice. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 136B(1): 98-102
|
|
Michalon, A., Sidorov, M., Ballard, T.M., Ozmen, L., Spooren, W., Wettstein, J.G., Jaeschke, G., Bear, M.F., Lindemann, L. (2012) Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Neuron, 74(1): 49-56
|
|
Napoli, I., Mercaldo, V., Boyl, P.P., Eleuteri, B., Zalfa, F., de Rubeis, S., di Marino, D., Mohr, E., Massimi, M., Falconi, M. (2008) The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell, 134(6): 1042-54
|
|
Nishimura, Y., Martin, C.L., Vazquez-Lopez, A., i dr. (2007) Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Human molecular genetics, 16(14); 1682-98
|
|
Nolin, S.L., Glicksman, A., Ersalesi, N., i dr. (2015) Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genet Med., 17(5); 358-64
|
|
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M.F., Mandel, J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252(5009): 1097-102
|
|
Oguro-Ando, A., Rosensweig, C., Herman, E., i dr. (2014) Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR. Molecular psychiatry
|
|
Pop, A.S., Levenga, J., de Esch, C.E.F., Buijsen, R.A.M., Nieuwenhuizen, I.M., Li, T., Isaacs, A., Gasparini, F., Oostra, B.A., Willemsen, R. (2012) Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant. Psychopharmacology, 231(6): 1227-1235
|
|
Primerano, B., Tassone, F., Hagerman, R.J., Hagerman, P., Amaldi, F., Bagni, C. (2002) Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. Rna, 8(12): 1482-88
|
|
Qin, M., Huang, T., Kader, M., i dr. (2015) R-baclofen reverses a social behavior deficit and elevated protein synthesis in a mouse model of fragile X syndrome. International Journal of Neuropsychopharmacology, 18(9); 34
|
|
Sahu, J.K., Gulati, S., Sapra, S., Arya, R., Chauhan, S., Chowdhury, M.R., Gupta, N., Kabra, M., Gupta, Y.K., Dwivedi, S.N. (2012) Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A Double-Blind, Randomized, Controlled Pilot Study. Journal of Child Neurology, 28(5): 570-575
|
1
|
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
|
|
Schaefer, T.L., Davenport, M.H., Erickson, C.A. (2015) Emerging pharmacologic treatment options for fragile X syndrome. Application of clinical genetics, 8: 75
|
1
|
Scharf, S.H., Jaeschke, G., Wettstein, J.G., Lindemann, L. (2015) Metabotropic glutamate receptor 5 as drug target for Fragile X syndrome. Current Opinion in Pharmacology, 20: 124-134
|
|
Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.L., Giangrande, A. (2003) CYFIP/ Sra-1 controls neuronal connectivity in drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron, 38(6): 887-98
|
|
Sellier, C., Freyermuth, F., Tabet, R., Tran, T., He, F., Ruffenach, F., Alunni, V., Moine, H., Thibault, C., Page, A. (2013) Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome. Cell Reports, 3(3): 869-880
|
|
Sethna, F., Moon, C., Wang, H. (2014) From FMRP function to potential therapies for fragile X syndrome. Neurochemical research, 39(6): 1016-31
|
|
Sharma, A., Hoeffer, C.A., Takayasu, Y., Miyawaki, T., McBride, S.M., Klann, E., Zukin, R. (2010) Dysregulation of mTOR signaling in fragile X syndrome. Journal of neuroscience, 30(2): 694-702
|
|
Shattuck, P.T., Durkin, M., Maenner, M., Newschaffer, C., Mandell, D.S., Wiggins, L., Lee, L., Rice, C., Giarelli, E., Kirby, R. (2009) Timing of Identification Among Children With an Autism Spectrum Disorder: Findings From a Population-Based Surveillance Study. Journal of the American Academy of Child & Adolescent Psychiatry, 48(5): 474-483
|
|
Sherman, S.L., Curnow, E.C., Easley, C.A., Jin, P., Hukema, R.K., Tejada, M.I., Willemsen, R., Usdin, K. (2014) Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). Journal of Neurodevelopmental Disorders, 6(1): 26
|
1
|
Sidorov, M.S., Auerbach, B.D., Bear, M.F. (2013) Fragile X mental retardation protein and synaptic plasticity. Molecular Brain, 6(1): 15
|
2
|
Sultana, R., Perluigi, M., Butterfield, A.D. (2006) Protein oxidation and lipid peroxidation in brain of subjects with Alzheimer's disease: Insights into mechanism of neurodegeneration from redox proteomics. Antioxidants & redox signaling, 8(11-12): 2021-37
|
|
Tassone, F., Greco, C.M., Hunsaker, M.R., Seritan, A.L., Berman, R.F., Gane, L.W., Jacquemont, S., Basuta, K., Jin, L.-W., Hagerman, P.J. (2012) Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes, Brain and Behavior, 11(5): 577-585
|
|
Tassone, F. (2014) Newborn screening for fragile X syndrome. JAMA neurology, 71(3): 355-9
|
|
Tassone, F. (2015) Advanced technologies for the molecular diagnosis of fragile X syndrome. Expert review of molecular diagnostics, 15(11): 1465-73
|
|
Uutela, M., Lindholm, J., Rantamäki, T., Umemori, J., Hunter, K., Võikar, V., Castrén, M.L. (2014) Distinctive behavioral and cellular responses to fluoxetine in the mouse model for Fragile X syndrome. Frontiers in Cellular Neuroscience, 8: 150
|
|
Wang, H., Dictenberg, J.B., Ku, L., Li, W., Bassell, G.J., Feng, Y. (2008) Dynamic association of the fragile X mental retardation protein as a messenger ribonucleoprotein between microtubules and polyribosomes. Molecular biology of the cell, 19(1): 105-14
|
|
Weiler, I.J., Irwin, S.A., Klintsova, A.Y., Spencer, C.M., Brazelton, A.D., Miyashiro, K., Comery, T.A., Patel, B., Eberwine, J., Greenough, W.T. (1997) Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proceedings of the National Academy of Sciences, 94(10): 5395-5400
|
|
Wenger, T.L., Kao, C., Mcdonald-Mcginn, D.M., i dr. (2016) The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Scientific reports, 6: 19372
|
1
|
Westmark, C.J., Malter, J.S. (2007) FMRP Mediates mGluR5-Dependent Translation of Amyloid Precursor Protein. PLoS Biology, 5(3): e52
|
|
Wöhrle, D., Salat, U., Gläser, D., Mücke, J., Meisel-Stosiek, M., Schindler, D., Vogel, W., Steinbach, P. (1998) Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. Journal of medical genetics, 35(2): 103-11
|
|
Wolff, J.J., Bodfish, J.W., Hazlett, H.C., Lightbody, A.A., Reiss, A.L., Piven, J. (2012) Evidence of a Distinct Behavioral Phenotype in Young Boys With Fragile X Syndrome and Autism. Journal of the American Academy of Child & Adolescent Psychiatry, 51(12): 1324-1332
|
|
Yang, J., Niu, Y., Simon, C., Seritan, A.L., Chen, L., Schneider, A., Moghaddam, S.T., Hagerman, P.J., Hagerman, R.J., Olichney, J.M. (2014) Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study. Neuropsychopharmacology, 39(12): 2760-8
|
|
Zhang, W., Xu, C., Tu, H., i dr. (2015) GABAB receptor upregulates fragile X mental retardation protein expression in neurons. Scientific reports, 5
|
|
|
|