Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Bagni, Claudia, Tassone, Flora, Neri, Giovanni, Hagerman, Randi·2012·Journal of Clinical Investigation

Cited by (318)

Items 201–300 of 318

  1. Low-Dose Sertraline Improves Receptive Language in Children with Fragile X Syndrome when Eye Tracking Methodology is used to Measure Treatment Outcome
    Susan Michelle Rivera · 2017 · Journal of Psychology & Clinical Psychiatry
  2. Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1
    Carla E. M. Golden, Yohan Yee, Victoria X. Wang, Hala Harony‐Nicolas, Patrick R. Hof, Jason P. Lerch, Joseph D. Buxbaum · 2020 · Translational Psychiatry
  3. FMR1 loss in a human stem cell model reveals early changes to intrinsic membrane excitability
    Sara G. Susco, Mario A. Arias-García, Violeta G. López-Huerta, Amanda Beccard, Anne M. Bara, Jessica Moffitt, Justin A. Korn, Zhanyan Fu, Lindy E. Barrett · 2020 · Developmental Biology
  4. Mosaicism in Fragile X syndrome: A family case series
    Wilmar Saldarriaga, Laura Yuriko González-Teshima, José Vicente Forero-Forero, Hiu-Tung Tang, Flora Tassone · 2021 · Journal of Intellectual Disabilities
  5. The characteristics, tumorigenicities and therapeutics of cancer stem cells based on circRNAs
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  6. EEG Microstates as Markers for Cognitive Impairments in Fragile X Syndrome
    Yukari Takarae, Anthony Paul Zanesco, Craig A. Erickson, Ernest V. Pedapati · 2023 · Brain Topography
  7. Reduction of α1GABAA receptor mediated by tyrosine kinase C (PKC) phosphorylation in a mouse model of fragile X syndrome.
    Weidong Zhao, Jiaqin Wang, Shunyi Song, Fang Li, Fangfang Yuan · 2015 · Europe PMC (PubMed Central)
  8. The role of prenatal choline and its impact on neurodevelopmental disorders
    María Fernanda Mujica-Coopman, Evan M. Paules, Isis Trujillo‐Gonzalez · 2024 · Frontiers in Nutrition
  9. Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence
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  10. Guía clínica de las enfermedades asociadas al gen FMR1: síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia
    Montserrat Milà, Feliciano J. Ramos, María‐Isabel Tejada · 2013 · Medicina Clínica
  11. Epigenomic Mechanisms of Human Developmental Disorders
    Erfan Aref‐Eshghi, Laila Cigana Schenkel, Deanna Alexis Carere, David I. Rodenhiser, Bekim Sadiković · 2018 · Elsevier eBooks
  12. Protein expression profiles that underpin the preventive and therapeutic potential of Moringa oleifera Lam against azoxymethane and dextran sodium sulfate‑induced mouse colon carcinogenesis
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  13. Dendritic spine membrane proteome and its alterations in autistic spectrum disorder
    Ana Sofía Vallés, Francisco José Barrantes · 2022 · Advances in protein chemistry and structural biology
  14. Pirenperone relieves the symptoms of fragile X syndrome in Fmr1 knockout mice
    Yujeong Kim, Se Jin Jeon, Edson Luck Gonzales, Dongpil Shin, Chilly Gay Remonde, TaeJin Ahn, Chan Young Shin · 2022 · Scientific Reports
  15. FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome system
    Hideo Shimizu, Hirohiko Hohjoh · 2023 · Scientific Reports
  16. Neuroendocrinology and the Genetics of Obesity
    Rebecca Elizabeth Ruggiero-Ruff, Djurdjica Coss · 2025 · Endocrinology
  17. FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal Differentiation
    Jinbae Yu, Youngsik Woo, Heesun Kim, Sihyeon An, Sang Ki Park, Sung Key Jang · 2023 · International Journal of Molecular Sciences
  18. Activation of the 5-HT1A Receptor by Eltoprazine Restores Mitochondrial and Motor Deficits in a Drosophila Model of Fragile X Syndrome
    Anna Vannelli, Vittoria Mariano, Claudia Bagni, Alexandros K. Kanellopoulos · 2024 · International Journal of Molecular Sciences
  19. Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals
    Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace et al. · 2023 · Cells
  20. Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders
    Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, C Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini et al. · 2024 · International Journal of Molecular Sciences
  21. Impact of FMR1 Pre-Mutation Status on Blastocyst Development in Patients Undergoing Pre-Implantation Genetic Diagnosis
    Anne P. Hutchinson, Nigel Pereira, Debra Lilienthal, Siobhán Coveney, Jovana P. Lekovich, Rony T. Elias, Zev Rosenwaks · 2017 · Gynecologic and Obstetric Investigation
  22. The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities
    Alice Romagnoli, Daniele Di Marino · 2021 · Frontiers in Psychiatry
  23. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report
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  24. Selective vulnerability of the ventral hippocampus-prelimbic cortex axis parvalbumin interneuron network underlies learning deficits of fragile X mice
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  25. Disco‐Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder
    Emilie T. Théberge, Kate Durbano, Diane Demailly, Sophie Huby, Aleksandra Mitina, Yue Yin, Arezoo Mohajeri, Clara van Karnebeek, Gabriella Ana Horvath, Ryan K. C. Yuen et al. · 2025 · Movement Disorders
  26. 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
    Xiaoyu Wang, Qiwei Fan, Xiaoyan Yu, Yuan Wang · 2022 · The Journal of Comparative Neurology
  27. Challenges in Translating Therapeutic Frontiers in Clinical Trials: Where Are We Now and What's Next?
    Dejan B. Budimirovic, Phan Q. Duy · 2017 · Madridge Journal of Neuroscience
  28. Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenario
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  29. Life is fragile: FMRP controls cell death in liver disease
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  30. Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazil
    Jorge Frank Braga Ferreira, Jacqueline da Silva Batista, Cleiton Fantin · 2019 · Anais da Academia Brasileira de Ciências
  31. Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
    Mirna Lechpammer, Verónica Martínez‐Cerdeño, Michael Ryan Hunsaker, Mina Hah, Hilary Gonzales, Stephen H. Tisch, Ronald Joffe, Roger Pamphlett, Flora Tassone, Paul J. Hagerman et al. · 2017 · Croatian Medical Journal
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    Jennifer M. Walters, Hayden A. Noblet, Hee Jung Chung · 2024 · Neurobiology of Disease
  33. Neural connections and molecular mechanisms underlying motor skill deficits in genetic models of autism spectrum disorders
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  34. G‐Quadruplex RNA Based PROTAC Enables Targeted Degradation of RNA Binding Protein FMRP for Tumor Immunotherapy
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  35. Exploring the dynamics of messenger ribonucleoprotein-mediated translation repression
    Julia Meyer, Marco Payr, Olivier Duss, Janosch Hennig · 2024 · Biochemical Society Transactions
  36. A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouse
    Jessica L. Huebschman, Samantha L. Hodges, Conner D. Reynolds, Suzanne O. Nolan, Joaquín N. Lugo · 2020 · Epilepsy & Behavior
  37. The Impact of Mild Chronic Stress and Maternal Experience in the Fmr1 Mouse Model of Fragile X Syndrome
    Enejda Subashi, Valérie Lemaire, Valeria Petroni, Susanna Pietropaolo · 2023 · International Journal of Molecular Sciences
  38. A novel link between FMR gene and the JNK pathway provides clues to possible role in malignant pleural mesothelioma
    Ajay Kumar Srivastava · 2015 · FEBS Open Bio
  39. Genetische Diagnostik vor assistierter Reproduktion – Empfehlungen der neuen S2k-Leitlinie 2019
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  40. Application of brain organoids in neurodevelopmental disorders
    Chao Zhao, Yong Qi, Lu Xia, Tengfei Zhu, Kun Xia · 2025 · Biochemical and Biophysical Research Communications
  41. Growth-suppressor microRNAs mediate synaptic overgrowth and behavioral deficits in Fragile X mental retardation protein deficiency
    Megha P. Subramanian, William T. Mills, Manish D. Paranjpe, Uche S Onuchukwu, Manasi Inamdar, Amanda R Maytin, Xinbei Li, Joel L. Pomerantz, Mollie K. Meffert · 2023 · iScience
  42. Diagnosemitteilung beim Fragilen-X-Syndrom – retrospektive Befragung von Eltern
    Julia Lessmann, Klaus Sarimski · 2013 · Praxis der Kinderpsychologie und Kinderpsychiatrie
  43. Anaesthesia and orphan disease
    Johannes Prottengeier, Tino Münster, Sibylle Pohmer, Joachim Schmidt · 2014 · European Journal of Anaesthesiology
  44. A decision tree model for predicting live birth in FMR1 premutation carriers undergoing preimplantation genetic testing for monogenic/single gene defects
    Yoni Cohen, Noga Nattiv, Sarit Avraham, Yuval Fouks, Michal Rosenberg Friedman, Joseph Hasson, Yael Kalma, Foad Azem, Mira Malcov, Benny Almog · 2021 · Reproductive BioMedicine Online
  45. Single-cell sequencing: promises and challenges for human genetics
    Varun K. A. Sreenivasan, Jana Henck, Malte Spielmann · 2022 · Medizinische Genetik
  46. Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
    David Eugeny Godler, Yoshimi Inaba, Minh Bui, David I. Francis, Cindy D. Skinner, Charles E. Schwartz, David J. Amor · 2023 · International Journal of Molecular Sciences
  47. Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome
    Shu-Yuan Bai, De-Yang Zeng, Ming Ouyang, Yan Zeng, Wei Tan, Lang Xu · 2024 · Frontiers in Cellular Neuroscience
  48. Pure psychiatric presentation of Fragile X‐associated tremor/ataxia syndrome
    Peggy Reiner, Irina Taifas, H Massiou, Éric Jouvent · 2013 · European Journal of Neurology
  49. Pilotstudie zu psychiatrischen und sozialen Aspekten bei Kindern und Jugendlichen mit Fragilem-X-Syndrom (FRX)
    Frank Häßler, Franziska Gaese, Michael Colla, Michael Huß, Christoph Kretschmar, Marc Brinkman, Helmut Peters, Samuel Elstner, Steffen Weirich, David Pittrow · 2016 · Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie
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  53. “We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia
    Jacintha Luermans, Jane Fleming, Rosie O’Shea, Kristine K Barlow-Stewart, Elizabeth E. Palmer, Melanie Leffler · 2023 · American Journal of Medical Genetics Part A
  54. Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline
    Julián Ramírez‐Cheyne, Diana López, César Payán‐Gómez, Mauricio Arcos‐Burgos, Wilmar Saldarriaga · 2024 · American Journal of Medical Genetics Part A
  55. Neurodevelopmental Disorders Caused by Genetic Defects in Structure of Glutamatergic Receptors
    A. V. Abramov, Евгений Вадимович Макушкин · 2024 · Psikhiatriya
  56. FMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome
    Xian Zhou, Chen-Jun Guo, Rui Ying Wang, Yi‐Lan Li, Tianyi Zhang, Zhuangyi Qiu, Shaorong Gao, Ji‐Long Liu, Yawei Gao · 2025 · Experimental Cell Research
  57. Autophagy controls the hippocampal postsynaptic organization and affects cognition in a mouse model of Fragile X syndrome
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  58. FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia
    Dejan B. Budimirovic, Dragana D. Protic · 2016 · Vojnosanitetski pregled
  59. Applications of Long-Read Sequencing Technology in Clinical Genomics
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  60. Knowledge and perceptions about fragile X syndrome and fragile X‐premutation‐associated conditions among medical doctors in Nigeria
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  62. Decoding Autism: The Role of Synaptic Dysfunction in Neurodevelopment
    Fatma Bal Cetinkaya, Duygu Bandırmalı, Guvem Gumus Akay · 2025 · Ankara Üniversitesi Tıp Fakültesi Mecmuası
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  64. Electroencephalography signals in a female Fragile X Syndrome mouse model
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  65. Deficits in Forelimb Reach Learning in a Mouse Model of Fragile X Syndrome
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