Cited by 527Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchDown syndrome and intellectual disability research

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

Analysis of neocortex in three males with the fragile X syndrome

Hinton, V. J., Brown, W. T., Wisniewski, K., Rudelli, R. D.·1991·American Journal of Medical Genetics

DOI 10.1002/ajmg.1320410306

Open this paper in CoChat — free account

Abstract

Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289-295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra-layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II-VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.

Integrity signals

Registry

Crossref · 10.1002/ajmg.1320410306

Cites

37 of 37 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Hypoplasia of cerebellar vermal lobules VI and VII in autism
Courchesne, E., Yeung-Courchesne, R., Hesselink, J. R., & Jernigan, T. L. (1988) · New England Journal of Medicine · doi:10.1056/nejm198805263182102 · Cited by 1,058
Some morphometric aspects of the brain in senile dementia of the alzheimer type
Terry, R. D., Peck, A., DeTeresa, R., Schechter, R., & Horoupian, D. S. (1981) · Annals of Neurology · doi:10.1002/ana.410100209 · Cited by 801
Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture Medium
Sutherland, G. R. (1977) · Science · doi:10.1126/science.877551 · Cited by 528
Dendritic Spine "Dysgenesis" and Mental Retardation
Purpura, D. P. (1974) · Science · doi:10.1126/science.186.4169.1126 · Cited by 522
Adult fragile X syndrome: Clinico-neuropathologic findings
Rudelli, R. D., Brown, W. T., Wisniewski, K., Jenkins, E. C., Laure-Kamionowska, M., Connell, F., & Wisniewski, H. M. (1985) · Acta Neuropathologica · doi:10.1007/bf00687814 · Cited by 362
Self-citation
Autism and Mental Retardation
Williams, R. S. (1980) · Archives of Neurology · doi:10.1001/archneur.1980.00500610029003 · Cited by 318
Abnormal neuronal development in the visual cortex of the human fetus and infant with down's syndrome. A quantitative and qualitative golgi study
Takashima, S., Becker, L. E., Armstrong, D. L., & Chan, F. (1981) · Brain Research · doi:10.1016/0006-8993(81)90314-0 · Cited by 307
Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study
Marin-Padilla, M. (1972) · Brain Research · doi:10.1016/0006-8993(72)90324-1 · Cited by 290
Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study
Marin‐Padilla, M. (1976) · Journal of Comparative Neurology · doi:10.1002/cne.901670105 · Cited by 285
Intrauterine Asphyxia and the Developing Fetal Brain
(1978) · Archives of Disease in Childhood · doi:10.1136/adc.53.8.696-d · Cited by 278

Show all 37 references

Research works printed but not linked: 2

Caviness VS, 1983, Curative Aspects of Mental Retardation, 43
Gingold M, 1989, Normal relative areas of the cerebellar vermis lobules I through V, compared with VI and VII and VIII, Ann Neurol, 26, 454

Sorted by citations

Items 401–500 of 523

Effects of Fragile X syndrome and an FMR1 knockout mouse model on forebrain neuronal cell biology
Churchill, J. D., Beckel-Mitchener, A. C., Weiler, I. J., & Greenough, W. T. (2002) · Microscopy Research and Technique · doi:10.1002/jemt.10062 · Cited by 7
Correction: Fragile Mental Retardation Protein Interacts with the RNA-Binding Protein Caprin1 in Neuronal RiboNucleoProtein Complexes
Fatimy, R. E., Tremblay, S., Dury, A. Y., Solomon, S., Koninck, P. D., Schrader, J. W., & Khandjian, É. W. (2012) · PLoS ONE · doi:10.1371/annotation/05374d07-34cf-483f-80f4-ec87374cbeb6 · Cited by 7
Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons
Juárez, P., Salcedo‐Arellano, M. J., Dufour, B. D., & Martínez‐Cerdeño, V. (2024) · Cerebral Cortex · doi:10.1093/cercor/bhae103 · Cited by 5
Molecular medicine of fragile X syndrome: based on known molecular mechanisms
Luo, S.-Y., Wu, L., & Duan, R. (2015) · World Journal of Pediatrics · doi:10.1007/s12519-015-0052-0 · Cited by 8
Linking Genes to Cognition: The Case of Fragile X Syndrome
Cornish, K. M., Bertone, A., Kogan, C. S., & Scerif, G. (2012) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780195305012.013.0004 · Cited by 6
The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities
Romagnoli, A., & Marino, D. D. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.754485 · Cited by 9
Neocortical vasculature abnormalities in the Fragile X mental retardation syndrome
Galvan, A. M., & Galvez, R. (2012) · Brain Research · doi:10.1016/j.brainres.2012.06.056 · Cited by 6
Extravasation of hyperalimentation into the spinal epidural space from a central venous line
Perry, M. S., & Billars, L. (2006) · Neurology · doi:10.1212/01.wnl.0000219648.78038.5b · Cited by 6
Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome
Anding, A., Ren, B., Padmashri, R., Burkovetskaya, M. E., & Dunaevsky, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26136510 · Cited by 5
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
The L1 cell adhesion molecule constrains dendritic spine density in pyramidal neurons of the mouse cerebral cortex
Murphy, K. E., Wade, S. D., Sperringer, J. E., Mohan, V., Duncan, B. W., Zhang, E. Y., Pak, Y., Lutz, D., Schachner, M., & Maness, P. F. (2023) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2023.1111525 · Cited by 5
The effect of single-cell knockout of Fragile X Messenger Ribonucleoprotein on synaptic structural plasticity
Gredell, M., Lu, J., & Zuo, Y. (2023) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2023.1135479 · Cited by 5
Progranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome
Life, B. E., Bettio, L. E. B., Gantois, I., Christie, B. R., & Leavitt, B. R. (2023) · Current Research in Neurobiology · doi:10.1016/j.crneur.2023.100094 · Cited by 4
The Role of MicroRNAs in Neurodegenerative Diseases: Implications for Early Detection and Treatment
Majer, A., Boese, A. S., & Booth, S. A. (2011) · Springer eBooks · doi:10.1007/978-3-642-22517-8_18 · Cited by 5
FMRP Regulates Neurogenesis In Vivo in Xenopus laevis Tadpoles
Faulkner, R. L., Wishard, T. J., Thompson, C. K., Liu, H.-H., & Cline, H. T. (2015) · eNeuro · doi:10.1523/eneuro.0055-14.2015 · Cited by 5
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?
Foote, M. M., Careaga, M., & Berman, R. F. (2016) · The Clinical Neuropsychologist · doi:10.1080/13854046.2016.1158254 · Cited by 5
Dysregulated CRMP Mediates Circadian Deficits in a Drosophila Model of Fragile X Syndrome
Zhao, J., Xue, J., Zhu, T., He, H., Kang, H., Jiang, X. J., Huang, W., & Duan, R. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00682-z · Cited by 4
Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers
Hallahan, B. P., Daly, E., Simmons, A., Moore, C. J., Murphy, K. C., & Murphy, D. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-23 · Cited by 4
The fragile X syndrome: bridging the gap from gene to behavior
D, S. E. M., & Feinstein, C. (2001) · Current Opinion in Psychiatry · doi:10.1097/00001504-200109000-00004 · Cited by 4
Synaptic disturbance in neurodevelopmental disorders: Perspectives from fragile X and Rett syndromes
Li, R., Anzai, M., Shibata, A., & Ito, A. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104358 · Cited by 5
Delayed Development of Dendritic Spines in Fxr2 Knockout Mouse
Deng, J., & Dunaevsky, A. (2014) · The Open Neuroscience Journal · doi:10.2174/1874082000903010148 · Cited by 3
Fragile X Syndrome and Autism Spectrum Disorders
Brown, W. T., & Cohen, I. L. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00030-2 · Cited by 3
Self-citation
Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome
Zhao, X., & Bhattacharyya, A. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_2 · Cited by 3
Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation
Edwards, N., Combrinck, C., McCaughey‐Chapman, A., & Connor, B. J. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1254412 · Cited by 3
Genetics of mental retardation
Anisimova, I. V. (2021) · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · doi:10.25557/2073-7998.2021.02.3-20 · Cited by 3
Fragile X syndrome
Phillips, J., & Wilson, G. A. (1998) · The Indian Journal of Pediatrics · doi:10.1007/bf02752293 · Cited by 3
The Origins of Behavior and Cognition in the Developing Brain
Black, J., Jennings, V. L., Aldridge, G. M., & Greenough, W. T. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-04025-9.50007-6 · Cited by 4
Fragile X-Linked Mental Retardation
Gantois, I., Kooy, R. F., & Oostra, B. A. (2006) · Wiley-VCH eBooks · doi:10.1002/3527600906.mcb.200300051 · Cited by 3
The Role of the Postsynaptic Density and the Spine Cytoskeleton in Synaptic Plasticity
Marcora, E. M., Carlisle, H. J., & Kennedy, M. B. (2008) · Elsevier eBooks · doi:10.1016/b978-012370509-9.00036-x · Cited by 4
Autism and Fragile X Syndrome
O’Leary, H., & Benke, T. A. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804066-9.00074-2 · Cited by 2
Development and Developmental Disorders of the Cerebral Cortex
ten Donkelaar, H. J., Vasung, L., Molnár, Z., Aronica, E., Lammens, M. M. Y., van Bokhoven, H., Ulzen, K. K.-V., & Hori, A. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_10 · Cited by 3
Fragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
Spector, E. (2012) · Springer eBooks · doi:10.1007/978-1-4419-1688-4_19 · Cited by 2
Fragile X Syndrome: A Disorder of Synaptic Protein Synthesis Dynamics
Muddashetty, R. S., Nalavadi, V., & Bassell, G. J. (2012) · Journal of the Indian Institute of Science · Cited by 2
Neurologic disorders associated with disease of the ovaries and testis
Kattah, J. C., & Kattah, W. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-7020-4087-0.00052-8 · Cited by 2
Zebrafish as a Model to study Human Disease: Functional Studies of the FXR Proteins
Padje, S. V. ‘. (2007) · Cited by 2
From genes to brain to behavior: the case of fragile X syndrome
Rivera, S. M., & Reiss, A. L. (2009) · Cambridge University Press eBooks · doi:10.1017/cbo9780511757402.017 · Cited by 2
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31
Shrimpton, A. E., Daly, K. M., & Hoo, J. J. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990528)84:3 · Cited by 20
Structural interactions of ankyrin B with NrCAM and β2 spectrin
Chirasani, V. R., Haberman, V. A., Oldre, E. N., Webb, B. D., Pereira, E. B., Yang, W., & Maness, P. F. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.110872 · Cited by 2
Spine Morphology and Plasticity in X-linked Mental Retardations
Arikkath, J. (2014) · The Open Neuroscience Journal · doi:10.2174/1874082000903010134 · Cited by 1
Path to understanding the pathophysiology of Fragile X syndrome
Mulle, J. G., Peñagarikano, O., & Warren, S. T. (2007) · Future Neurology · doi:10.2217/14796708.2.5.567 · Cited by 1
Investigating Therapeutic Strategies for Fragile X Syndrome in Mice
Michalon, A., & Lindemann, L. (2012) · BioValley monographs · doi:10.1159/000339190 · Cited by 1
Organizational Events
Haynes, R. L., Kinney, H. C., & Volpe, J. J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10513-5.00007-3 · Cited by 1
Brain in a Dish
Trujillo, C. A., Negraes, P. D., Hrvoj-Mihić, B., Lins, M. F. C., Semendeferi, K., & Muotri, A. R. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800105-9.00008-1 · Cited by 1
Gelsolin : a regulator of postsynaptic actin assembly and AMPA receptor expression
Zhao, P. (2003) · edoc (University of Basel) · doi:10.5451/unibas-003354194 · Cited by 1
Insights into the human Fragile X syndrome gene family using Drosophila melanogaster
Coffee, R. L. (2011) · Cited by 1
Genetic interaction between Fmr1 and Grm5: A role for mGluR5 in the pathogenesis of Fragile X Syndrome
Dölen, G. (2008) · Cited by 1
Fragile X Syndrome as a Multilevel Model for Understanding Behaviorally Defined Disorders
Karmiloff‐Smith, A., Doherty, B. R., Cornish, K. M., & Scerif, G. (2016) · doi:10.1002/9781119125556.devpsy302 · Cited by 1
Developmental Axonal Pruning and Synaptic Plasticity
Scelfo, B., & Buffelli, M. (2009) · Springer eBooks · doi:10.1007/978-0-387-92708-4_5 · Cited by 2
Impaired dendritic spine development in a zebrafish model of Fragile XPreprint
DeMarco, E. C., Stoner, G., & Robles, E. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.15.480580 · Cited by 1
Maternal exposure to prostaglandin e2 results in abnormal dendritic morphology in the cerebellum and related motor behaviour in mouse offspringPreprint
Kissoondoyal, A., Ho, K., Wong, C. T., & Crawford, D. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.12.562077 · Cited by 1
Differentiation of neural stem cells in fragile X syndrome
Tervonen, T. A. (2008) · Työväentutkimus Vuosikirja
Role of mGluR5 and FMRP in mouse primary somatosensory cortex
Wijetunge, L. S. (2009) · OpenGrey (Institut de l'Information Scientifique et Technique)
Toward Fulfilling the Promise of Molecular Medicine in Fragile X
Krueger‐Burg, D., & Bear, M. F. (2011) · DSpace@MIT (Massachusetts Institute of Technology)
Implicancias del gen FMR1 en la función ovárica
Ferder, I. C. (2014) · Repositorio Digital Institucional de la Universidad de Buenos Aires (Universidad de Buenos Aires)
Targeted therapies for fragile X syndrome: current state and future direction of clinical trials in humans
Kamm, C. (2013) · Clinical Investigation · doi:10.4155/cli.13.45
Ephrins and Eph Receptors in Spinogenesis and Synaptic Plasticity
Yamaguchi, Y., & Irie, F. (2006) · Springer eBooks · doi:10.1007/978-0-387-32562-0_11
Investigação de elementos regulatórios do éxon 14 do gene Fmr1 e análise de expressão de suas isoformas
Corrêa, J. D. C. (2014) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2014.tde-01092014-085006
Mechanisms of Depolarization Induced Dendritic Growth of Drosophila Motor Neurons
Cherry, C. (2006) · UA Campus Repository (The University of Arizona)
Measurement of Cerebral and Cerebellar Volumes in Children with Fragile X Syndrome
Kabakuş, N., Aydın, M., Kavaklı, A., Yıldırım, H., & Akın, H. (2006) · DergiPark (Istanbul University)
The role of RhoD in actin dynamics, receptor trafficking and cancer cell migration
Nehru, V. (2013) · Figshare
Critical period plasticity and sensory function in a neuroligin-3 model of autism
LeBlanc, J. J. (2013) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
Fragile X Syndrome: Steps towards Therapy
Pop, A. (2013) · RePub (Erasmus University Rotterdam)
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual
Garber, K. B., Visootsak, J., & Warren, S. T. (2008)
Brain-DerivedNeurotrophicFactorRescuesSynaptic PlasticityinaMouseModelofFragileXSyndrome
Lauterborn, J. C. (2007)
In Vivo Visualization of Single Axons and Synaptic Remodeling in Normal and Pathological Conditions
Grillo, F. W., Canty, A. J., Bloomfield, P. S., & Paola, V. D. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-801393-9.00011-6
Rôle de la protéine FMRP dans la formation et le dynamisme des granules à ARN
Mellaoui, S. (2012) · Corpus Université Laval (Université Laval)
Understanding Synaptic and Circuit Disruptions of Excitatory and Inhibitory Function In Fragile X Mental Retardation
Patel, A. B. (2013)
Die Reaktivierung der FMR1-Transkription in Fibroblasten von Patienten mit Fragilem-X-Syndrom durch Methotrexat
Gärtner, J. (2014)
Determinants of Synaptic and Circuit Plasticity in the Cerebral Cortex: Implications for Neurodevelopmental Disorders
Wilson, N. R., & Sur, M. (2011) · The MIT Press eBooks · doi:10.7551/mitpress/9780262015233.003.0007
FMRP and the Pathophysiology of Fragile X Syndrome
Barnes, S. A., Thomson, S. R., Kind, P. C., & Osterweil, E. K. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00008-x
How mRNA transport in nerve cells influences synapses and learning
Tübing, F., & Kiebler, M. A. (2006)
Drugs development and fragile X syndrome translational success story
Budimirovic, D. B., & Protic, D. D. (2016) · Medicinski podmladak · doi:10.5937/mp67-12697
Profilin isoforms in the hippocampus in health and disease
Zessin, S. (2014) · Digitale Bibliothek Braunschweig (Verbundzentrale Göttingen (VZG)) · doi:10.24355/dbbs.084-201501221125-0
Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
Roy, S. (2012) · doi:10.21007/etd.cghs.2012.0268
The Role of PAK Signaling in Synaptic Transmission and Plasticity and Social Memory in Mice
Leung, C. (2019) · TSpace (University of Toronto)
A drosophila model of cellular and molecular mechanisms of fragile x syndrome.
Pan, L. (2007)
What Can the Study of Behavioral Phenotypes Teach Us About the Pathway from Genes to Behavior?
Flint, J. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_4
Faculty Opinions recommendation of Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486.
Chelly, J. (2013) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.717992196.793473535
BIBLIOGRAPHY OF DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY: SELECTED BOOKS AND ARTICLES RECEIVED IN 1992
(1993) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1993.tb11741.x
Faculty Opinions recommendation of Spine-neck geometry determines NMDA receptor-dependent Ca2+ signaling in dendrites.
Ehlers, M. (2005) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1024391.323245
Die Reaktivierung der FMR1-Transkription in Fibroblasten von Patienten mit Fragilem-X-Syndrom durch Methotrexat
Mielke, B. (2014) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-4833
Faculty Opinions recommendation of Dendritic spine elimination: molecular mechanisms and implications.
Kano, M., & Watanabe, T. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733168960.793562671
Faculty Opinions recommendation of A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.
Abel, T. G. (2005) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1021688.336118
The L1 Cell Adhesion Molecule Constrains Dendritic Spine Density through Ankyrin Binding in Pyramidal Neurons of the Mouse Cerebral CortexPreprint
Murphy, K. E., Wade, S. D., Sperringer, J. E., Mohan, V., Duncan, B. W., Pak, Y., Lutz, D., Schachner, M., & Maness, P. F. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.05.16.492130
Neural response to repeated auditory stimuli and its association with early language development in children with Fragile X syndromePreprint
An, W. W., Nelson, C. A., & Wilkinson, C. L. (2022) · medRxiv · doi:10.1101/2022.07.05.22277114
Spontaneous Synchronous Network Activity Underlying The Development Of Immature Rodent Medial Prefrontal Cortex
Pires, J. H. D. S. D. (2022) · doi:10.5463/thesis.35
Translational modulation by ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndromePreprint
Coulson, R. L., Frattini, V., Moyer, C. E., Hodges, J., Walter, P., Mourrain, P., Zuo, Y., & Wang, G. X. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.08.553269
Human induced pluripotent stem cell-derived microglia contribute to the pathophysiology of Fragile X syndrome via increased RAC1 signalingPreprint
Banerjee, P., Sharma, S. D., Burr, K., Morris, K. J., Ritakari, T. E., Baxter, P. S., Cooper, J. D., Cardinalli, A., Subash, S., Paza, E., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.24.600387
Rett Syndrome
Percy, A. K., Dragich, J. M., & Schanen, N. C. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_15
Introduction: Reminiscing on Models and Modeling
Denman, R. B. (2011) · Results and problems in cell differentiation · doi:10.1007/978-3-642-21649-7_1
Oxytocin and Vasopressin in Autism and Genetic Syndromes
Levin‐Decanini, T., Francis, S. M., Sagar, A., Liu, W., Carter, C. S., & Jacob, S. (2015) · Contemporary clinical neuroscience · doi:10.1007/978-1-4939-2190-4_14
Olfactory Deficits in Fragile X Syndrome
Kuruppath, P. (2026) · European Journal of Neuroscience · doi:10.1111/ejn.70357
Altered striatal long-term potentiation in the eIF4E- TG ASD mouse modelPreprint
Aaltonen, A., Razquin, J., Oyrer, J., Criscuolo, C., Lieberman, O. J., Klann, E., Borgkvist, A., & Santini, E. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.04.709616
Altered striatal long-term potentiation in the eIF4E-TG mouse model of autism spectrum disorder
Aaltonen, A., Razquin, J., Garton, D. R., Oyrer, J., Criscuolo, C., Lieberman, O. J., Klann, E., Borgkvist, A., & Santini, E. (2026) · iScience · doi:10.1016/j.isci.2026.117278
Organisation et dynamique des protéines d'échafaudage de la postsynapse glutamatergique : implications dans la physio-pathologie de la transmission synaptique.
Moutin, E. (2011) · theses.fr (ABES) · doi:10.70675/05b33070za45dz42c0za7a2z5ae562c649c7
Plasticité d'un réseau du cortex à barils lors de l'apprentissage et dans un modèle murin du syndrome de l'X fragile
Fieschi, M. (2013) · theses.fr (ABES) · doi:10.70675/ff7d5323za503z4617z96ddz313dd4464846
Involvement of mGluR5/Homer crosstalk disruption in the pathophysiology of Fragile X Syndrome
Aloisi, E. (2015) · theses.fr (ABES) · doi:10.70675/e628d840zb6adz4e63z9d1fz71559b23fe24
Studying Neuronal Connectivity in the Mouse Brain in Normal Condition and Fragile X Syndrome
Haberl, M. G. (2014) · theses.fr (ABES) · doi:10.70675/cbb47168z82fbz41a1z9174zd9e36b2b5a6d
Etude de la neurogenèse hippocampique adulte et des fonctions cognitives chez trois souris modèles de déficience intellectuelle
Castillon, C. (2018) · theses.fr (ABES) · doi:10.70675/3cf539d4z8f28z44d5zb94dzf27b0404597b
Investigating the plasticity of sensory cortical circuits in the context of learning in the wild-type mouse and a conditional mouse model of fragile X syndrome
Erlandson, M. A. (2017) · theses.fr (ABES) · doi:10.70675/fd87094dz38adz4f01zbfedza64e51e7f3c7

Authors: Hinton, V. J., Brown, W. T., Wisniewski, K., & Rudelli, R. D.
Affiliations: Queens College, CUNY (US)
Cornell University (US)
Corresponding author: Rudelli, R. D.
ORCID: Hinton, V. J.
Wisniewski, K.
Venue: American Journal of Medical Genetics
Publisher: Wiley
Published: 1991-12
Volume: 41
Issue: 3
Pages: 289-294
ISSN: 0148-7299 (ISSN-L)
1096-8628
DOI: 10.1002/ajmg.1320410306
OpenAlex: W2051541374
Cited by: 527
References: 37
Citations by year: 2026: 8 · 2025: 5 · 2024: 7 · 2023: 11 · 2022: 9 · 2021: 13 · 2020: 14 · 2019: 14 · 2018: 12 · 2017: 20 · 2016: 23 · 2015: 20 · 2014: 25 · 2013: 24 · 2012: 24
FWCI: 0.43
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4933 d)
Locations: American Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: fragile X syndrome, neocortex, dendritic spines, Golgi staining, intellectual disability, neuronal density, cingulate cortex, temporal association cortex, male patients, neuropathology
MeSH terms: Adolescent, Adult, Analysis of Variance, Cell Count, Cerebral Cortex, Fragile X Syndrome, Humans, Karyotyping, Male, Intellectual Disability, Middle Aged, Neurons, Pedigree, Staining and Labeling

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Analysis of neocortex in three males with the fragile X syndrome

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks