Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, Claudia, Tassone, Flora, Neri, Giovanni, Hagerman, Randi·2012·Journal of Clinical Investigation
DOI 10.1172/jci63141
Cited by (318)
Items 201–300 of 318
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- 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)
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- Guía clínica de las enfermedades asociadas al gen FMR1: síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxiaMontserrat Milà, Feliciano J. Ramos, María‐Isabel Tejada · 2013 · Medicina Clínica
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- FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin–proteasome systemHideo Shimizu, Hirohiko Hohjoh · 2023 · Scientific Reports
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- FMRP Enhances the Translation of 4EBP2 mRNA during Neuronal DifferentiationJinbae Yu, Youngsik Woo, Heesun Kim, Sihyeon An, Sang Ki Park, Sung Key Jang · 2023 · International Journal of Molecular Sciences
- Activation of the 5-HT1A Receptor by Eltoprazine Restores Mitochondrial and Motor Deficits in a Drosophila Model of Fragile X SyndromeAnna Vannelli, Vittoria Mariano, Claudia Bagni, Alexandros K. Kanellopoulos · 2024 · International Journal of Molecular Sciences
- Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X IndividualsGiulia 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
- Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated DisordersMartina 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
- Impact of FMR1 Pre-Mutation Status on Blastocyst Development in Patients Undergoing Pre-Implantation Genetic DiagnosisAnne P. Hutchinson, Nigel Pereira, Debra Lilienthal, Siobhán Coveney, Jovana P. Lekovich, Rony T. Elias, Zev Rosenwaks · 2017 · Gynecologic and Obstetric Investigation
- The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and OpportunitiesAlice Romagnoli, Daniele Di Marino · 2021 · Frontiers in Psychiatry
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- Cellular distribution of the Fragile X mental retardation protein in the inner ear: a developmental and comparative study in the mouse, rat, gerbil, and chickenXiaoyu Wang, Qiwei Fan, Xiaoyan Yu, Yuan Wang · 2022 · The Journal of Comparative Neurology
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- Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenarioDeepika Delsa Dean, Sarita Agarwal, Srinivasan Muthuswamy · 2019 · Expert Review of Molecular Diagnostics
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- Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two casesMirna 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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- G‐Quadruplex RNA Based PROTAC Enables Targeted Degradation of RNA Binding Protein FMRP for Tumor ImmunotherapyRuixi Peng, Qian Huang, Li Wang, Gongxi Qiao, Xiangrong Huang, Jian‐Hui Jiang, Xia Chu · 2024 · Angewandte Chemie
- Exploring the dynamics of messenger ribonucleoprotein-mediated translation repressionJulia Meyer, Marco Payr, Olivier Duss, Janosch Hennig · 2024 · Biochemical Society Transactions
- A single episode of early-life status epilepticus impacts neonatal ultrasonic vocalization behavior in the Fmr1 knockout mouseJessica L. Huebschman, Samantha L. Hodges, Conner D. Reynolds, Suzanne O. Nolan, Joaquín N. Lugo · 2020 · Epilepsy & Behavior
- The Impact of Mild Chronic Stress and Maternal Experience in the Fmr1 Mouse Model of Fragile X SyndromeEnejda Subashi, Valérie Lemaire, Valeria Petroni, Susanna Pietropaolo · 2023 · International Journal of Molecular Sciences
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- Growth-suppressor microRNAs mediate synaptic overgrowth and behavioral deficits in Fragile X mental retardation protein deficiencyMegha 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
- Diagnosemitteilung beim Fragilen-X-Syndrom – retrospektive Befragung von ElternJulia Lessmann, Klaus Sarimski · 2013 · Praxis der Kinderpsychologie und Kinderpsychiatrie
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- Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X SyndromeDavid Eugeny Godler, Yoshimi Inaba, Minh Bui, David I. Francis, Cindy D. Skinner, Charles E. Schwartz, David J. Amor · 2023 · International Journal of Molecular Sciences
- Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndromeShu-Yuan Bai, De-Yang Zeng, Ming Ouyang, Yan Zeng, Wei Tan, Lang Xu · 2024 · Frontiers in Cellular Neuroscience
- Pure psychiatric presentation of Fragile X‐associated tremor/ataxia syndromePeggy Reiner, Irina Taifas, H Massiou, Éric Jouvent · 2013 · European Journal of Neurology
- 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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- “We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in AustraliaJacintha Luermans, Jane Fleming, Rosie O’Shea, Kristine K Barlow-Stewart, Elizabeth E. Palmer, Melanie Leffler · 2023 · American Journal of Medical Genetics Part A
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- Electroencephalography signals in a female Fragile X Syndrome mouse modelAsim Ahmed, Veronica Rasheva, Moonyoung Bae, Kartikeya Murari, Ning Cheng · 2026 · NeuroImage
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