The Pathophysiology of Fragile X Syndrome

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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The mGluR theory of fragile X mental retardation

Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499

Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476

Altered synaptic plasticity in a mouse model of fragile X mental retardation

Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349

Structure and function of dendritic spines

Nimchinsky, E. A., Sabatini, B. L., & Svoboda, K. (2002) · Annual Review of Physiology · doi:10.1146/annurev.physiol.64.081501.160008 · Cited by 1,208

Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome

Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109

Fmr1 knockout mice: A model to study fragile X mental retardation

THEDUTCHBELGIANFRAGILEXCONSOR (1994) · Cell · doi:10.1016/0092-8674(94)90569-x · Cited by 1,108

The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndrome.

Portis, S. M., Giunta, B. N., Obregon, D. F., & Tan, J. (2012) · Europe PMC (PubMed Central) · Cited by 24

Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome

Simhal, A. K., Zuo, Y., Perez, M. M., Madison, D. V., Sapiro, G., & Micheva, K. D. (2019) · Scientific Reports · doi:10.1038/s41598-019-50240-x · Cited by 24

Reducing glutamate signaling pays off in fragile X

Bassell, G. J., & Groß, C. (2008) · Nature Medicine · doi:10.1038/nm0308-249 · Cited by 24

Current Approaches to Epigenetic Therapy

Griazeva, E. D., Fedoseeva, D. M., Radion, E. I., Ershov, P. V., Meshkov, I. O., Semyanihina, A. V., Makarova, A. S., Makarov, V. V., Yudin, V. S., Keskinov, A. A., et al. (2023) · Epigenomes · doi:10.3390/epigenomes7040023 · Cited by 23

Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome

Rais, M., Lovelace, J. W., Shuai, X. S., Woodard, W., Bishay, S., Estrada, L., Sharma, A. R., Nguy, A. K., Kulinich, A. O., Pirbhoy, P. S., et al. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105577 · Cited by 25

Fragile X syndrome: An aging perspective

Schneider, A., Ligsay, A., & Hagerman, R. J. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1129 · Cited by 23

Circadian Rhythm-Dependent Alterations of Gene Expression in Drosophila Brain Lacking Fragile X Mental Retardation Protein

Xu, S., Poidevin, M., Han, E., Bi, J., & Jin, P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037937 · Cited by 23

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Tassone, F., & Berry‐Kravis, E. (2010) · Springer eBooks · doi:10.1007/978-1-4419-5805-1 · Cited by 24

Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders

Fink, J. J., & Levine, E. S. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00237 · Cited by 26

Dopaminergic Perturbation in the Aetiology of Neurodevelopmental Disorders

Ijomone, O. K., Oria, R. S., Ijomone, O. M., Aschner, M., & Bornhorst, J. (2024) · Molecular Neurobiology · doi:10.1007/s12035-024-04418-8 · Cited by 22

Fragile X mental retardation protein regulates accumulation of the active zone protein Munc18-1 in presynapses via local translation in axons during synaptogenesis

Parvin, S., Takeda, R., Sugiura, Y., Neyazaki, M., Nogi, T., & Sasaki, Y. (2018) · Neuroscience Research · doi:10.1016/j.neures.2018.09.013 · Cited by 22

CRISPR/dCas9 as a Therapeutic Approach for Neurodevelopmental Disorders: Innovations and Limitations Compared to Traditional Strategies

Ricci, R., & Colasante, G. (2021) · Developmental Neuroscience · doi:10.1159/000515845 · Cited by 23

Loss‐of‐function analyses of the fragile X‐related and dopamine receptor genes by RNA interference in the cricket Gryllus bimaculatus

Hamada, A., Miyawaki, K., Honda‐Sumi, E., Tomioka, K., Mito, T., Ohuchi, H., & Noji, S. (2009) · Developmental Dynamics · doi:10.1002/dvdy.22029 · Cited by 22

Hyperexcitability of Sensory Neurons in Fragile X Mouse Model

Deng, P., Avraham, O., Cavalli, V., & Klyachko, V. A. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.796053 · Cited by 21

Group I Metabotropic Glutamate Receptors (mGluRs): Ins and Outs

Mahato, P. K., Ramsakha, N., Ojha, P., Gulia, R., Sharma, R. V., & Bhattacharyya, S. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-3065-0_12 · Cited by 22

Transient Enhanced GluA2 Expression in Young Hippocampal Neurons of a Fragile X Mouse Model

Banke, T. G., & Barría, A. (2020) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2020.588295 · Cited by 20

Mutation Spectra in Fragile X Syndrome Induced by Deletions of CGG·CCG Repeats

Wells, R. D. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.r800024200 · Cited by 20

Analysis of the Fragile X mental retardation protein isoforms 1, 2 and 3 interactions with the G-quadruplex forming semaphorin 3F mRNA

Evans, T. L., Blice‐Baum, A. C., & Mihailescu, M. (2011) · Molecular BioSystems · doi:10.1039/c1mb05322a · Cited by 20

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

Jørgensen, I. F., Russo, F., Jensen, A. B., Westergaard, D., Lademann, M., Hu, J. X., Brunak, S., & Belling, K. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0519-9 · Cited by 20

Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome

Heulens, I., D’Hulst, C., Braat, S., Rooms, L., & Kooy, R. F. (2010) · The Scientific World JOURNAL · doi:10.1100/tsw.2010.211 · Cited by 19

Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5′-UTR

McAninch, D. S., Heinaman, A. M., Lang, C. N., Moss, K. R., Bassell, G. J., Mihailescu, M., & Evans, T. L. (2017) · Molecular BioSystems · doi:10.1039/c7mb00070g · Cited by 19

Deficit in Motor Training-Induced Clustering, but Not Stabilization, of New Dendritic Spines in fmr1 Knock-Out Mice

Reiner, B. C., & Dunaevsky, A. (2015) · PLoS ONE · doi:10.1371/journal.pone.0126572 · Cited by 20

Pathophysiology of Epilepsy in Autism Spectrum Disorders

Stafstrom, C. E., Hagerman, P. J., & Pessah, I. N. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0071 · Cited by 19

Enhancing cognition through pharmacological and environmental interventions: Examples from preclinical models of neurodevelopmental disorders

Morè, L., Lauterborn, J. C., Papaleo, F., & Brambilla, R. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.02.003 · Cited by 20

Fmr1-Deficiency Impacts Body Composition, Skeleton, and Bone Microstructure in a Mouse Model of Fragile X Syndrome

Leboucher, A., Bermudez-Martin, P., Mouska, X., Amri, E., Pisani, D. F., & Davidovic, L. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00678 · Cited by 19

Calsyntenin-1 Negatively Regulates ICAM5 Accumulation in Postsynaptic Membrane and Influences Dendritic Spine Maturation in a Mouse Model of Fragile X Syndrome

Cheng, K., Chen, Y.-S., Yue, C., Zhang, S., Pei, Y.-P., Cheng, G.-R., Liu, D., Xu, L., Dong, H.-X., & Zeng, Y. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.01098 · Cited by 19

Myosin Va is required for the transport of fragile X mental retardation protein (FMRP) granules

Lindsay, A. J., & McCaffrey, M. (2013) · Biology of the Cell · doi:10.1111/boc.201200076 · Cited by 19

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Klusek, J., LaFauci, G., Adayev, T., Brown, W. T., Tassone, F., & Roberts, J. E. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9197-6 · Cited by 20

Splice form‐dependent regulation of axonal arbor complexity by FMRP

Zimmer, S. E., Doll, S. G., Garcia, A. D. R., & Akins, M. R. (2016) · Developmental Neurobiology · doi:10.1002/dneu.22453 · Cited by 17

Age- and sex-related analysis of methylation of 5′-upstream sequences of Fmr-1 gene in mouse brain and modulation by sex steroid hormones

Singh, K., & Prasad, S. (2008) · Biogerontology · doi:10.1007/s10522-008-9178-y · Cited by 18

FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell typesPreprint

Driesche, S. J. V., Sawicka, K., Zhang, C., Hung, K. Y. S., Park, C. Y., Fak, J. J., Yang, C., Darnell, R. B., & Darnell, J. C. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/762500 · Cited by 17

Comparison of TRIBE and STAMP for identifying targets of RNA binding proteins in human and Drosophila cells

Abruzzi, K. C., Ratner, C., & Rosbash, M. (2023) · RNA · doi:10.1261/rna.079608.123 · Cited by 16

Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome

Chang, K. T., Ro, H., Wang, W., & Min, K. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.08.007 · Cited by 17

Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome

Giráldez‐Pérez, R. M., Ávila, M. N., Feijoo‐Cuaresma, M., Heredia, R., de Diego‐Otero, Y., Real, M. A., & Guirado, S. (2012) · The Journal of Comparative Neurology · doi:10.1002/cne.23209 · Cited by 16

Fragile dopamine

Weinshenker, D., & Warren, S. T. (2008) · Nature · doi:10.1038/455607a · Cited by 15

Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models

Maussion, G., Rocha, C., Abdian, N., Yang, D., Turk, J., Valenzuela, D. C., Pimentel, L. S. B., You, Z., Morquette, B., Nicouleau, M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241914926 · Cited by 15

Biochemical and bioinformatic methods for elucidating the role of RNA–protein interactions in posttranscriptional regulation

Kloetgen, A., Münch, P. C., Borkhardt, A., Hoell, J. I., & McHardy, A. C. (2014) · Briefings in Functional Genomics · doi:10.1093/bfgp/elu020 · Cited by 14

Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome

Zhang, B., Zhang, J., Chen, H., Qiao, D., Guo, F., Hu, X., Qin, C., Jin, X., Zhang, K., Wang, C., et al. (2024) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2024.111036 · Cited by 16

Clinical Neurogenetics

Fogel, B. L., & Geschwind, D. H. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0434-1.00040-2 · Cited by 14

Synaptic Plasticity as a Therapeutic Target in the Treatment of Autism-related Single-gene Disorders

Pignatelli, M., Feligioni, M., Piccinin, S., Molinaro, G., Nicoletti, F., & Nisticò, R. (2013) · Current Pharmaceutical Design · doi:10.2174/1381612811319360008 · Cited by 14

Recombinant bacterial expression and purification of human fragile X mental retardation protein isoform 1

Evans, T. L., & Mihailescu, M. (2010) · Protein Expression and Purification · doi:10.1016/j.pep.2010.06.002 · Cited by 14

A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome

Straub, D., Schmitt, L., Boggs, A. E., Horn, P. S., Dominick, K. C., Groß, C., & Erickson, C. A. (2023) · Scientific Reports · doi:10.1038/s41598-023-29786-4 · Cited by 13

Fruitful research: drug target discovery for neurodegenerative diseases in Drosophila

Konsolaki, M. (2013) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2013.849691 · Cited by 13

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome

Perche, O., Lesne, F., Patat, A. A., Raab, S., Twyman, R. E., Ring, R. H., & Briault, S. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09375-0 · Cited by 13

Astrocyte-Secreted Factors Selectively Alter Neural Stem and Progenitor Cell Proliferation in the Fragile X Mouse

Sourial, M. M., & Doering, L. C. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00126 · Cited by 13

Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses

Verhoeven, W. M. A., Egger, J. I. M., Gunning, W. B., M.Bevers, & de Pont, B. J. H. B. (2008) · Biologics · doi:10.2147/btt.s3053 · Cited by 15

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

Jacquemont, S., Birnbaum, S., Redler, S., Steinbach, P. J., & Biancalana, V. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.55 · Cited by 14

The Role of the Postsynaptic Density in the Pathology of the Fragile X Syndrome

Kindler, S., & Kreienkamp, H. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_5 · Cited by 12

A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome

Cannon, B. L., Pan, C., Chen, L., Hadd, A. G., & Russell, R. (2012) · Molecular Biotechnology · doi:10.1007/s12033-012-9505-z · Cited by 12

Subtle differences in synaptic transmission in medial nucleus of trapezoid body neurons between wild-type and Fmr1 knockout mice

Lu, Y. (2019) · Brain Research · doi:10.1016/j.brainres.2019.04.006 · Cited by 14

Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome

Moskalyuk, A., Vijver, S. V. D., Verstraelen, P., Vos, W. H. D., Kooy, R. F., & Giugliano, M. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz068 · Cited by 12

Activity-dependent alterations in the sensitivity to BDNF-TrkB signaling may promote excessive dendritic arborization and spinogenesis in fragile X syndrome in order to compensate for compromised postsynaptic activity

Kim, S. W., & Cho, K. (2014) · Medical Hypotheses · doi:10.1016/j.mehy.2014.07.007 · Cited by 14

Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome

Parente, M., Tonini, C., Buzzelli, V., Carbone, E., Trezza, V., & Pallottini, V. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063408 · Cited by 11

Post‐Transcriptional Regulation of Gene Expression and the Intricate Life of Eukaryotic mRNAs

Lancaster, C. L., Moberg, K. H., & Corbett, A. H. (2025) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.70007 · Cited by 14

Autism spectrum disorder model mice: Focus on copy number variation and epigenetics

Nakai, N., Otsuka, S., Myung, J., & Takumi, T. (2015) · Science China Life Sciences · doi:10.1007/s11427-015-4891-7 · Cited by 11

Mitochondrial bioenergetics of astrocytes in Fragile X syndrome: new perspectives on culture conditions and sex effects

Vandenberg, G. G., Thotakura, A., & Scott, A. L. M. (2021) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00130.2021 · Cited by 11

Across Dimensions: Developing 2D and 3D Human iPSC-Based Models of Fragile X Syndrome

Lee, A., Xu, J., Wen, Z., & Jin, P. (2022) · Cells · doi:10.3390/cells11111725 · Cited by 11

Interaction of USF1/USF2 and α-Pal/Nrf1 to Fmr-1 promoter increases in mouse brain during aging

Prasad, S., & Singh, K. (2008) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2008.08.155 · Cited by 11

Genetic and systems level analysis of Drosophila sticky/citron kinase and dFmr1 mutants reveals common regulation of genetic networks

Bauer, C. R., Epstein, A. M., Sweeney, S., Zarnescu, D. C., & Bosco, G. (2008) · BMC Systems Biology · doi:10.1186/1752-0509-2-101 · Cited by 11

Variable expression of MECP2, CDKL5, and FMR1 in the human brain: Implications for gene restorative therapies

Zito, A., & Lee, J. T. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2312757121 · Cited by 12

Mining and modeling human genetics for autism therapeutics

Smith, D. G., & Ehlers, M. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.03.004 · Cited by 10

Chemogenetic manipulation of astrocyte activity at the synapse— a gateway to manage brain disease

Pereira, M. J., Ayana, R., Holt, M. G., & Arckens, L. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1193130 · Cited by 10

Computational Identification and Experimental Validation of MicroRNAs Binding to the Fragile X Syndrome Gene Fmr1

Gong, X., Wang, Y., Zeng, J., Li, S., & Luo, Y. (2014) · Neurochemical Research · doi:10.1007/s11064-014-1471-3 · Cited by 10

Increased iron content in the heart of the Fmr1 knockout mouse

Talvio, K., Kanninen, K. M., White, A. R., Koıstınaho, J., & Castrén, M. L. (2021) · BioMetals · doi:10.1007/s10534-021-00320-1 · Cited by 10

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother

Cavani, S., Prontera, P., Grasso, M., Ardisia, C., Malacarne, M., Gradassi, C., Cecconi, M., Mencarelli, A., Donti, E., & Pierluigi, M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33515 · Cited by 10

The Cerebellum and Autism: More than Motor Control

Fernández, M. C., Sierra-Arregui, T., & Peñagarikano, O. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.85897 · Cited by 10

dTACC restricts bouton addition and regulates microtubule organization at the Drosophila neuromuscular junction

Chou, V., Johnson, S. A., Long, J. B., Vounatsos, M. V., & Vactor, D. V. (2019) · Cytoskeleton · doi:10.1002/cm.21578 · Cited by 7

The Endocannabinoid System in Prefrontal Synaptopathies

Scheyer, A. F., Martin, H. G. S., & Manzoni, O. J. (2017) · Springer eBooks · doi:10.1007/978-3-319-57371-7_7 · Cited by 10

Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice

Luque, M. A., Morcuende, S., Torres, B., & Herrero, L. (2024) · The Journal of Physiology · doi:10.1113/jp285244 · Cited by 9

Neocortical development as an evolutionary platform for intragenomic conflict

Lewitus, É., & Kalinka, A. T. (2013) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2013.00002 · Cited by 9

Impact of Chromatin Organization and Epigenetics on CRISPR-Cas and TALEN Genome Editing

Jain, S., Xun, G., & Zhao, H. (2024) · ACS Synthetic Biology · doi:10.1021/acssynbio.4c00099 · Cited by 9

Aligning Animal Models with Clinical Epilepsy: Where to Begin?

Harward, S. C., & McNamara, J. O. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-94-017-8914-1_19 · Cited by 9

Alterations in the Sp1 binding and Fmr-1 gene expression in the cortex of the brain during maturation and aging of mouse

Gaur, P., & Prasad, S. (2014) · Molecular Biology Reports · doi:10.1007/s11033-014-3571-1 · Cited by 9

Familial mental retardation: a review and practical classification

Maris, A. F., Barbato, I. T., Trott, A., & Montano, M. A. E. (2013) · Ciência & Saúde Coletiva · doi:10.1590/s1413-81232013000600023 · Cited by 11

Proteomic analyses of nucleus laminaris identified candidate targets of the fragile X mental retardation protein

Sakano, H., Zorio, D. A. R., Wang, X., Ting, Y. S., Noble, W. S., MacCoss, M. J., Rubel, E. W., & Wang, Y. (2017) · The Journal of Comparative Neurology · doi:10.1002/cne.24281 · Cited by 8

Reduction of α1GABAA receptor mediated by tyrosine kinase C (PKC) phosphorylation in a mouse model of fragile X syndrome.

Zhao, W., Wang, J., Song, S., Li, F., & Yuan, F. (2015) · Europe PMC (PubMed Central) · Cited by 8

Diverse Functions and Mechanisms of Mammalian Long Noncoding RNAs

Merry, C. R., Niland, C. N., & Khalil, A. M. (2014) · Methods in molecular biology · doi:10.1007/978-1-4939-1369-5_1 · Cited by 9

Mutated Human Embryonic Stem Cells for the Study of Human Genetic Disorders

Ben‐Yehudah, A., Malcov, M., Frumkin, T., & Ben‐Yosef, D. (2012) · Methods in molecular biology · doi:10.1007/978-1-61779-794-1_11 · Cited by 8

Organizational Events

Kinney, H. C., & Volpe, J. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-42876-7.00007-7 · Cited by 8

Mental Retardation: Definition, Classification and Etiology

Regan, R., & Willatt, L. R. (2010) · Monographs in human genetics · doi:10.1159/000287593 · Cited by 13

De Novo Large Deletion Leading to Fragile X Syndrome

Jiraanont, P., Manor, E., Tabatadze, N., Zafarullah, M., Mendoza‐Morales, G., Melikishvili, G., & Tassone, F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.884424 · Cited by 7

Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review

Ryan, N., & Heron, E. A. (2023) · Journal of Applied Genetics · doi:10.1007/s13353-022-00742-8 · Cited by 8

Deregulation of RNA Metabolism in Microsatellite Expansion Diseases

Misra, C., Lin, F., & Kalsotra, A. (2018) · Advances in neurobiology · doi:10.1007/978-3-319-89689-2_8 · Cited by 7

Dynamics of the Fragile X Mental Retardation Protein Correlates with Cellular and Synaptic Properties in Primary Auditory Neurons following Afferent Deprivation

Yu, X.-Y., Wang, X.-Y., Sakano, H., Zorio, D., & Wang, Y. (2020) · The Journal of comparative neurology · doi:10.1002/cne.24959 · Cited by 7

Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome

Wagner, V. A., Thapa, R., Norman, A. O., Varallo, A., Wimberly, J., Rais, M., Gerasymchuk, D., Piepponen, P. T., Razak, K. A., Castrén, M. L., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107233 · Cited by 8

Age- and Sex-dependent Differential Interaction of Nuclear trans-acting Factors with Fmr-1 Promoter in Mice Brain

Prasad, S., & Singh, K. (2007) · Neurochemical Research · doi:10.1007/s11064-007-9545-0 · Cited by 5

Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chicken

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