{"id":4406,"date":"2020-10-31T13:14:47","date_gmt":"2020-10-31T12:14:47","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4406"},"modified":"2024-01-05T12:55:30","modified_gmt":"2024-01-05T11:55:30","slug":"fragile-x","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/fragile-x\/","title":{"rendered":"Fragiele X Syndroom"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Fragile X Syndroom” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]M\u00fcller AR, et.al. (2024) Cannabidiol (Epidyolex\u00ae) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. <\/strong>BMC Psychiatry.<\/em> Pubmed<\/a><\/span><\/p>\n

Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.<\/strong> Front Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Ottenhoff MJ, et.al. <\/em>(2020) Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders. <\/strong>eNeuro<\/em>. 7; 1-5. Pubmed<\/span><\/a><\/p>\n

Van Remmerden MC, et al.<\/em> (2020) Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.<\/strong> J Autism Dev Disord<\/em>. Pubmed<\/span><\/a><\/p>\n

Zeidler S,\u00a0et.al.<\/em>(2018)\u00a0Fragile X Syndrome: new therapeutic strategies.\u00a0<\/strong>Tijdschr Psychiatr.\u00a0<\/em>60(5); 338-42\u00a0Link<\/span><\/a><\/p>\n

Zeidler S,\u00a0et.al.<\/em> (2017)\u00a0Leidraad voor diagnostiek en behandeling van kinderen met het Fragiele X Syndroom. <\/strong>Expertisecentrum ENCORE. Link<\/a><\/em><\/p>\n

van der Vaart T, et.al<\/em>. (2015) Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments.<\/strong> JAMA Neurol<\/em> 72; 1052\u201360. Pubmed<\/span><\/a><\/p>\n

Pop, A.S. et al.<\/em> (2013) Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development.<\/strong> Psychopharmacology (Berl.)<\/em> Pubmed<\/span><\/a><\/p>\n

de Esch, C.E.F. et al.<\/em> (2013) Translational endpoints in fragile X syndrome. <\/strong>Neurosci Biobehav Rev.<\/em> Pubmed<\/span><\/a><\/p>\n

Pop, A.S. et al.<\/em> (2012) Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056\/Mavoglurant.<\/strong> Psychopharmacology (Berl.)<\/em> Pubmed<\/span><\/a><\/p>\n

Vinueza Veloz, M.F. et al.<\/em> (2012) The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.<\/strong> Genes Brain Behav<\/em> 11, 325\u2013331. Pubmed<\/span><\/a><\/p>\n

Castr\u00e9n, E. et al.<\/em> (2012) Treatment of neurodevelopmental disorders in adulthood.<\/strong> J Neurosci<\/em> 32, 14074\u201314079. Link<\/span><\/a><\/p>\n

Levenga, J. et al.<\/em> (2011) AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.<\/strong> Neurobiol Dis<\/em> 42, 311\u2013317. Pubmed<\/span><\/a><\/p>\n

Levenga, J. et al.<\/em> (2011) Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice. <\/strong>Neurobiol Learn Mem<\/em> 95, 467\u2013472. Pubmed<\/span><\/a><\/p>\n

Levenga, J. et al.<\/em> (2010) Potential therapeutic interventions for fragile X syndrome.<\/strong> Trends Mol Med<\/em> 16, 516\u2013527. Pubmed<\/span><\/a><\/p>\n

Brouwer, J.R. et al.<\/em> (2009) The FMR1 gene and fragile X-associated tremor\/ataxia syndrome. <\/strong>Am. J. Med Genet B Neuropsychiatr Genet, <\/em>150, 782\u2013798. Pubmed<\/a><\/span><\/p>\n

Levenga, J. et al.<\/em> (2009) Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. <\/strong>Neurobiol Dis<\/em> 35, 241\u2013250. Pubmed<\/span><\/a><\/p>\n

Van’t Padje, S. et al.<\/em> (2009) Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.<\/strong> J. Exp. Biol.<\/em> 212, 2564\u20132570. Pubmed<\/span><\/a><\/p>\n

Brouwer, J.R. et al.<\/em> (2008) CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor\/ataxia syndrome.<\/strong> J Neurochem<\/em> 107, 1671\u20131682. Pubmed<\/span><\/a><\/p>\n

Smit, A.E. et al.<\/em> (2008) Savings and extinction of conditioned eyeblink responses in fragile X syndrome.<\/strong> Genes Brain Behav<\/em> 7, 770\u2013777. Pubmed<\/span><\/a><\/p>\n

de Vrij, F.M.S. et al.<\/em> (2008) Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice.<\/strong> Neurobiol Dis<\/em> 31, 127\u2013132. Pubmed<\/span><\/a><\/p>\n

Brouwer, J.R. et al.<\/em> (2008) Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor\/ataxia syndrome.<\/strong> Psychoneuroendocrinology<\/em> 33, 863\u2013873. Pubmed<\/span><\/a><\/p>\n

Govaerts, L.C.P. et al.<\/em> (2007) Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.<\/strong> Clin Genet<\/em> 72, 138\u2013144. Pubmed<\/span><\/a><\/p>\n

Brouwer, J.R. et al.<\/em> (2007) Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.<\/strong> Exp Cell Res<\/em> 313, 244\u2013253. Pubmed<\/span><\/a><\/p>\n

Mientjes, E.J. et al.<\/em> (2006) The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo<\/strong>. Neurobiol Dis<\/em> 21, 549\u2013555. Pubmed<\/span><\/a><\/p>\n

Koekkoek, S.K.E. et al.<\/em> (2005) Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. <\/strong>Neuron<\/em> 47, 339\u2013352. Pubmed<\/span><\/a><\/p>\n

van ’t Padje, S. et al.<\/em> (2005) Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene. <\/strong>Dev. Genes Evol.<\/em> 215, 198\u2013206. Pubmed<\/span><\/a><\/p>\n

Blonden, L. et al.<\/em> (2005) Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis.<\/strong> Int. J. Dev. Biol.<\/em> 49, 437\u2013441. Pubmed<\/span><\/a><\/p>\n

Stoyanova, V. et al.<\/em> (2004) Loss of FMR1 hypermethylation in somatic cell heterokaryons.<\/strong> FASEB J.<\/em> 18, 1964\u20131966. Pubmed<\/span><\/a><\/p>\n

Schrier, M. et al.<\/em> (2004) Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.<\/strong> Exp Neurol<\/em> 189, 343\u2013353. Pubmed<\/a><\/p>\n

Mientjes, E.J. et al.<\/em> (2004) Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.<\/strong> Hum Mol Genet<\/em> 13, 1291\u20131302. Pubmed<\/span><\/a><\/p>\n

De Diego Otero, Y. et al.<\/em> (2002) Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. <\/strong>Mol Cell Biol<\/em> 22, 8332\u20138341. Pubmed<\/span><\/a><\/p>\n

Willemsen, R. et al.<\/em> (2002) Timing of the absence of FMR1 expression in full mutation chorionic villi.<\/strong> Hum Genet<\/em> 110, 601\u2013605. Pubmed<\/span><\/a><\/p>\n

Bontekoe, C.J.M. et al.<\/em> (2002) Knockout mouse model for Fxr2: a model for mental retardation. <\/strong>Hum Mol Genet<\/em> 11, 487\u2013498. Pubmed<\/span><\/a><\/p>\n

Bontekoe, C.J. et al.<\/em> (2001) Instability of a (CGG)98 repeat in the Fmr1 promoter.<\/strong> Hum Mol Genet<\/em> 10, 1693\u20131699. Pubmed<\/span><\/a><\/p>\n

Willemsen, R. et al.<\/em> (2000) Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype.<\/strong> J Med Genet<\/em> 37, 603\u2013604. Pubmed<\/span><\/a><\/p>\n

Bakker, C.E. et al.<\/em> (2000) Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse.<\/strong> Exp Cell Res<\/em> 258, 162\u2013170. Pubmed<\/span><\/a><\/p>\n

Tamanini, F. et al.<\/em> (2000) The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.<\/strong> Hum Mol Genet<\/em> 9, 1487\u20131493. Pubmed<\/span><\/a><\/p>\n

Willemsen, R. et al.<\/em> (1999) Noninvasive test for fragile X syndrome, using hair root analysis. <\/strong>Am J Hum Genet<\/em> 65, 98\u2013103. Pubmed<\/span><\/a><\/p>\n

de Vries, B.B. et al.<\/em> (1999) Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.<\/strong> J Med Genet<\/em> 36, 467\u2013470. Pubmed<\/span><\/a><\/p>\n

Tamanini, F. et al.<\/em> (1999) Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.<\/strong> Hum Mol Genet<\/em> 8, 863\u2013869. Pubmed<\/span><\/a><\/p>\n

de Vries, B.B. et al.<\/em> (1999) Dilemmas in counselling females with the fragile X syndrome.<\/strong> J Med Genet<\/em> 36, 167\u2013170. Pubmed<\/span><\/a><\/p>\n

Wildhagen, M.F. et al.<\/em> (1999) Efficacy of cascade testing for fragile X syndrome.<\/strong> J Med Screen<\/em> 6, 70\u201376. Pubmed<\/span><\/a><\/p>\n

de Vries, B.B. et al.<\/em> (1998) Screening with the FMR1 protein test among mentally retarded males.<\/strong> Hum Genet<\/em> 103, 520\u2013522. Pubmed<\/span><\/a><\/p>\n

Verheij, C. et al.<\/em> (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.<\/strong> Nature<\/em> 363, 722\u2013724. Pubmed<\/span><\/a><\/p>\n

Reyniers, E. et al.<\/em> (1993) The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.<\/strong> Nat Genet<\/em> 4, 143\u2013146. Pubmed<\/span><\/a><\/p>\n

Verkerk, A.J. et al.<\/em> (1993) Alternative splicing in the fragile X gene FMR1. <\/strong>Hum Mol Genet<\/em> 2, 399\u2013404. Pubmed<\/span><\/a><\/p>\n

De Boulle, K. et al.<\/em> (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation.<\/strong> Nat Genet<\/em> 3, 31\u201335. Pubmed<\/span><\/a><\/p>\n

de Vries, B.B. et al.<\/em> (1993) Mental status and fragile X expression in relation to FMR-1 gene mutation.<\/strong> Eur J Hum Genet <\/em>1, 72\u201379. Pubmed<\/span><\/a><\/p>\n

Willems, P.J. et al.<\/em> (1992) Segregation of the fragile X mutation from an affected male to his normal daughter. <\/strong>Hum Mol Genet<\/em> 1, 511\u2013515. Pubmed<\/span><\/a><\/p>\n

Verkerk, A.J. et al.<\/em> (1992) Intragenic probe used for diagnostics in fragile X families.<\/strong> Am J Med Genet<\/em> 43, 192\u2013196. Pubmed<\/span><\/a><\/p>\n

Oostra, B.A. and Verkerk, A.J. (1992) The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation. <\/strong>Chromosoma<\/em> 101, 381\u2013387. Pubmed<\/span><\/a><\/p>\n

Faust, C.J. et al.<\/em> (1992) Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.<\/strong> Genomics<\/em> 12, 814\u2013817. Pubmed<\/span><\/a><\/p>\n

Verkerk, A.J. et al.<\/em> (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.<\/strong> Cell<\/em> 65, 905\u2013914. Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Fragile X Syndroom” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]M\u00fcller AR, et.al. (2024) Cannabidiol (Epidyolex\u00ae) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. BMC Psychiatry. Pubmed Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4406"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4406"}],"version-history":[{"count":9,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4406\/revisions"}],"predecessor-version":[{"id":5154,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4406\/revisions\/5154"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4406"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}