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 (359)

Items 301–359 of 359

  1. Cell type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behaviour in fragile X syndrome model mice
    Francesco Longo, Sameer Aryal, Paul G. Anastasiades, Marta Maltese, Corey Baimel, Federica Albanese, Joanna Tabor, Jeffrey D. Zhu, Mauricio Martins Oliveira, Denise Gastaldo et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  2. Development and Developmental Disorders of the Cerebral Cortex
    Hans J. ten Donkelaar, Lana Vasung, Zoltán Molnár, Eleonora Aronica, Martin M. Y. Lammens, Hans van Bokhoven, Karin Kamphuis-van Ulzen, Akira Hori · 2023 · Springer eBooks
  3. How dendritic spines shape is determined by MMP-9 activity in FXS
    Magdalena Dziembowska · 2023 · International review of neurobiology
  4. Fragile X—A Family of Disorders: Changing Phenotype and Molecular Genetics
    Elaine Spector · 2012 · Springer eBooks
  5. Fragile X Syndrome: A Disorder of Synaptic Protein Synthesis Dynamics
    Ravi Sondekoppa Muddashetty, Vijayalaxmi Nalavadi, Gary Jonathan Bassell · 2012 · Journal of the Indian Institute of Science
  6. Zebrafish as a Model to study Human Disease: Functional Studies of the FXR Proteins
    Sandra van ‘t Padje · 2007
  7. From genes to brain to behavior: the case of fragile X syndrome
    Susan Michelle Rivera, Allan L. Reiss · 2009 · Cambridge University Press eBooks
  8. Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction
    Maria Syrrou, Ioannis A. Georgiou, Philippos C. Patsalis, Ioanna Bouba, George Adonakis, Gerassimos N. Pagoulatos · 1999 · American Journal of Medical Genetics
  9. Spine Morphology and Plasticity in X-linked Mental Retardations
    Jyothi Arikkath · 2014 · The Open Neuroscience Journal
  10. Dysplasias in Chromosome Anomalies
    Reinhard L. Friede · 1989 · Springer eBooks
  11. Historical review: The golden age of the Golgi method in human neuropathology
    Isidró Ferrer · 2024 · Journal of Neuropathology & Experimental Neurology
  12. Fragile-X syndrome: genetic aspects and stomatologic evaluations.
    Fabiana Muzzi, F Santini, Gabriela Romanini, F N Bartuli, Claudia Arcuri · 2010 · Europe PMC (PubMed Central)
  13. Neuroanatomical Considerations Specific to the Study of Neurogenetics
    Albert M. Galaburda, J. Eric Schmitt · 2003 · Humana Press eBooks
  14. Chromosomal Abnormalities and Cortical Malformations
    Maurizio Elia · 2019 · Springer eBooks
  15. Accelerators, Brakes, and Gears of Actin Dynamics in Dendritic Spines
    Crystal G. Pontrello, Iryna M. Ethell · 2014 · The Open Neuroscience Journal
  16. Gelsolin : a regulator of postsynaptic actin assembly and AMPA receptor expression
    Pingwei Zhao · 2003 · edoc (University of Basel)
  17. Genetic interaction between Fmr1 and Grm5: A role for mGluR5 in the pathogenesis of Fragile X Syndrome
    Gül Dölen · 2008
  18. Fragile X Syndrome as a Multilevel Model for Understanding Behaviorally Defined Disorders
    Annette Karmiloff‐Smith, Brianna Ruth Doherty, Kim M. Cornish, Gaia Scerif · 2016
  19. Differentiation of neural stem cells in fragile X syndrome
    Topi Aulis Tervonen · 2008 · Työväentutkimus Vuosikirja
  20. Role of mGluR5 and FMRP in mouse primary somatosensory cortex
    Lasani S. Wijetunge · 2009 · OpenGrey (Institut de l'Information Scientifique et Technique)
  21. Positive Modulation of AMPA Receptors as a Broad-Spectrum Strategy for Treating Neuropsychiatric Disorders
    GARY S. LYNCH, Julie C. Lauterborn, Christine M. Gall · 2010 · Birkhäuser Basel eBooks
  22. Ephrins and Eph Receptors in Spinogenesis and Synaptic Plasticity
    Yu Yamaguchi, Fumitoshi Irie · 2006 · Springer eBooks
  23. Investigação de elementos regulatórios do éxon 14 do gene Fmr1 e análise de expressão de suas isoformas
    Juliana da Cruz Corrêa · 2014 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  24. Measurement of Cerebral and Cerebellar Volumes in Children with Fragile X Syndrome
    Nimet Kabakuş, Mustafa Aydın, Ahmet Kavaklı, Hanefi Yıldırım, Haluk Akın · 2006 · DergiPark (Istanbul University)
  25. The role of RhoD in actin dynamics, receptor trafficking and cancer cell migration
    Vishal Nehru · 2013 · Figshare
  26. A Fragile Synapse: Changes at the Synapse in Fragile X Syndrome
    Alina J. Webber, Brian R. Christie · 2006 · Springer eBooks
  27. Fragile X Syndrome: Steps towards Therapy
    Andreea Pop · 2013 · RePub (Erasmus University Rotterdam)
  28. Thefragile X syndrome
    Martinus FNiermeijer · 1998
  29. Brain-DerivedNeurotrophicFactorRescuesSynaptic PlasticityinaMouseModelofFragileXSyndrome
    Julie C. Lauterborn · 2007
  30. In Vivo Visualization of Single Axons and Synaptic Remodeling in Normal and Pathological Conditions
    Federico W. Grillo, Alison Jane Canty, Peter S. Bloomfield, Vincenzo De Paola · 2016 · Elsevier eBooks
  31. Rôle de la protéine FMRP dans la formation et le dynamisme des granules à ARN
    Samia Mellaoui · 2012 · Corpus Université Laval (Université Laval)
  32. The Role of SAD-1 Kinase in Caenorhabditis elegans Neuronal Circuit Development and Function
    Tetyana Pekar · 2013 · TSpace (University of Toronto)
  33. Funktionelle Charakterisierung von FMRP, dem Krankheitsgenprodukt des Fragilen X-Syndroms
    Ludwig-Maximilians-Universität München · 2004
  34. FMRP and the Pathophysiology of Fragile X Syndrome
    Stephanie A. Barnes, Sophie R. Thomson, Peter C. Kind, Emily K. Osterweil · 2016 · Elsevier eBooks
  35. Molecular Correlates of Fragile X Syndrome and FXTAS
    Flora Tassone, Paul J. Hagerman · 2007 · Springer eBooks
  36. Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome
    Snigdha Roy · 2012
  37. A drosophila model of cellular and molecular mechanisms of fragile x syndrome.
    Luyuan Pan · 2007
  38. Neural response to repeated auditory stimuli and its association with early language development in children with Fragile X syndrome
    Winko Wenkang An, Charles A. Nelson, Carol L. Wilkinson · 2022 · medRxiv
  39. Translational modulation by ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome
    Rochelle L. Coulson, Valentina Frattini, Caitlin E. Moyer, Jennifer Hodges, Peter Walter, Philippe Mourrain, Yi Zuo, Gordon X. Wang · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  40. Behavioral benefits of GSK-3β inhibition and state-dependent microtubule signatures in the Fmr1-KO mouse
    John Kealy, Charlotte K. Callaghan, Aimée Freeburn, Aoife M. Thornton, Chris Greene, Beatrice Garrone, Claudio Milanese, Massimiliano Bianchi · 2025 · Frontiers in Neuroscience
  41. Upregulated SEMA3C in astrocytes contributes to Rett Syndrome phenotypes
    Krissy A. Lyon, Adrien Paumier, Ananya Kandikonda, Andrea Melendez, Nicola J. Allen · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  42. Oxytocin and Vasopressin in Autism and Genetic Syndromes
    Tal Levin‐Decanini, Sunday M. Francis, Angela Sagar, Wensheng Liu, Carol Sue Carter, Suma Jacob · 2015 · Contemporary clinical neuroscience
  43. Olfactory Deficits in Fragile X Syndrome
    Praveen Kuruppath · 2026 · European Journal of Neuroscience
  44. Organisation et dynamique des protéines d'échafaudage de la postsynapse glutamatergique : implications dans la physio-pathologie de la transmission synaptique.
    Enora Moutin · 2011 · theses.fr (ABES)
  45. Involvement of mGluR5/Homer crosstalk disruption in the pathophysiology of Fragile X Syndrome
    Elisabetta Aloisi · 2015 · theses.fr (ABES)
  46. Anomalies sensorielles visuelles du Syndrome de l'X fragile, contribution rétinienne au phénotype de dys-sensibilité
    Chloé Felgerolle · 2019
  47. Pathophysiological consequences of a Fragile X missense mutation
    Marta Prieto Garcia · 2020 · theses.fr (ABES)
  48. Identifying therapeutic targets for the treatment of Fragile X Syndrome : Implications for Autism Spectrum Disorders
    William Fyke · 2021
  49. Rôle de la phosphodiestérase 2A dans la physiopathologie du syndrome de l’X fragile
    Sébastien Delhaye · 2021 · theses.fr (ABES)
  50. Etude du développement cortical à travers la caractérisation d'un modèle murin d'autisme et l'inférence des interactions cellulaires par séquençage en cellules uniques
    Rémi Mathieu · 2022
  51. BKCa channels as therapeutic targets in neurodevelopmental disorders : focus on acoustic dysfunction
    Celeste Ferraguto · 2024 · theses.fr (ABES)
  52. Pathophysiology of the FMRP-R138Q Fragile X Syndrome missense mutation in mice
    Isabel Chato-Astrain · 2025 · theses.fr (ABES)
  53. Age‐Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome
    Neelam Noorie Umar Farooqi, Jens Randel Nyengaard, Tue G. Banke · 2026 · Developmental Neurobiology
  54. Loss of Fmr1 causes subnucleus-specific decreases in dendritic complexity in mediodorsal thalamus
    Alena Kizimenko, Polina N. Lyuboslavsky, Audrey C. Brumback · 2026 · Brain Structure and Function
  55. BindingDB Entry 50022520: Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486.
    BindingDB · 2025 · UC San Diego
  56. Rho-Linked Mental Retardation Genes
    Nael Nadif Kasri, Linda Van Aelst · 2010 · Advances in neurobiology
  57. Untitled work
    Irwin · 2001 · 10.1002/1096-8628(20010115)98:2
  58. Functional neuroimaging studies of reading and reading disability (developmental dyslexia)
    2000
  59. Untitled work
    Miller · 1999 · 10.1002/(sici)1096-8628(19990402)83:4