Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome by Martina Parente, Claudia Tonini, Valeria Buzzelli, Emilia Carbone, Viviana Trezza, Valentina Pallottini

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Maternal Mental Health and Parenting Stress and Their Relationships to Characteristics of the Child With Fragile X Syndrome by Lauren Bullard, Lauren Bullard, Danielle Harvey, Leonard Abbeduto, Leonard Abbeduto

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Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells by Jill M. Haenfler, Jill M. Haenfler, Geena Skariah, Caitlin M. Rodriguez, Andre Monteiro da Rocha, Jack M. Parent, Jack M. Parent, Gary D. Smith, Peter K. Todd, Peter K. Todd

Subjects: “…Fragile X Syndrome…”
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CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome by Barbara eBardoni, Sabiha eAbekhoukh

“…An example is the Fragile X Mental retardation gene, FMR1, whose silencing causes the Fragile X syndrome, the most common form of intellectual disability and autism, also characterized by physical hallmarks. …”
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Maternal well-being and family adaptation during COVID-19 in fragile X syndrome by Heather Fielding-Gebhardt, Rebecca Swinburne Romine, Shelley Bredin-Oja, Nancy Brady, Nancy Brady, Steven F. Warren, Steven F. Warren

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Impaired synaptic incorporation of AMPA receptors in a mouse model of fragile X syndrome by Magdalena Chojnacka, Anna Beroun, Marta Magnowska, Aleksandra Stawikowska, Dominik Cysewski, Jacek Milek, Magdalena Dziembowska, Bozena Kuzniewska

“…Fragile X syndrome (FXS) is the most common monogenetic cause of inherited intellectual disability and autism in humans. …”
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Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model by Amit Modgil, Thuy N. Vien, Michael A. Ackley, James J. Doherty, Stephen J. Moss, Stephen J. Moss, Paul A. Davies

“…Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. …”
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Rates and predictors of co-occurring autism spectrum disorder in boys with fragile X syndrome by Eileen Haebig, Audra Sterling, Andrea Barton-Hulsey, Laura Friedman

“…Background and aims Males with fragile X syndrome display many behavioral features of autism spectrum disorder. …”
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Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome by Sang S. Seo, Susana R. Louros, Natasha Anstey, Miguel A. Gonzalez-Lozano, Callista B. Harper, Nicholas C. Verity, Owen Dando, Sophie R. Thomson, Jennifer C. Darnell, Peter C. Kind, Ka Wan Li, Emily K. Osterweil

“…Dysregulated protein synthesis is key contributor to Fragile X syndrome. Here the authors identify a relationship between ribosome expression and the translation of long mRNAs that contributes to synaptic weakening in a model of Fragile X syndrome.…”
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EPIGENETIC MECHANISM AFFECTS MICROGLIA STATUS AND SYNAPTIC PRUNING MECHANISM IN FRAGILE X SYNDROME by Antonella Borreca, Giulia Santamaria, Michela Matteoli

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Phenotypic Trade-Offs: Deciphering the Impact of Neurodiversity on Drug Development in Fragile X Syndrome by Truong An Bui, Julie Shatto, Tania Cuppens, Arnaud Droit, François V. Bolduc, François V. Bolduc, François V. Bolduc

Subjects: “…fragile X syndrome…”
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Corrigendum: EEG Signal Complexity Is Reduced During Resting-State in Fragile X Syndrome by Mélodie Proteau-Lemieux, Mélodie Proteau-Lemieux, Inga Sophia Knoth, Kristian Agbogba, Valérie Côté, Hazel Maridith Barlahan Biag, Angela John Thurman, Charles-Olivier Martin, Anne-Marie Bélanger, Cory Rosenfelt, Flora Tassone, Flora Tassone, Leonard J. Abbeduto, Leonard J. Abbeduto, Sébastien Jacquemont, Sébastien Jacquemont, Randi Hagerman, François Bolduc, David Hessl, David Hessl, Andrea Schneider, Andrea Schneider, Sarah Lippé, Sarah Lippé

Subjects: “…fragile X syndrome…”
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Multielectrode array analysis of EEG biomarkers in a mouse model of Fragile X Syndrome by Carrie R. Jonak, Jonathan W. Lovelace, Iryna M. Ethell, Khaleel A. Razak, Devin K. Binder

Subjects: “…Fragile X syndrome…”
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Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome by Denise M. Christofolini, Monica V.N. Lipay, Marco Antonio P. Ramos, Silvia S. Costa, Fernanda T.S. Bellucco, Sintia I. Nogueira, Leslie D. Kulikowski, Décio Brunoni, Maria Isabel Melaragno

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The Application of Adeno-Associated Viral Vector Gene Therapy to the Treatment of Fragile X Syndrome by David R. Hampson, Alexander W. M. Hooper, Yosuke Niibori

“…Collectively, the findings to date from the mouse studies on fragile X syndrome, and data from clinical trials testing AAVs in other neurological conditions, indicate that AAV-mediated gene therapy could be a viable strategy for treating fragile X syndrome.…”
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Multimodal assessment of the GABA system in patients with fragile-X syndrome and neurofibromatosis of type 1 by Angelina Lacroix, Mélodie Proteau-Lemieux, Samantha Côté, Jamie Near, Steve C.N. Hui, Richard A.E. Edden, Sarah Lippé, Artuela Çaku, François Corbin, Jean-François Lepage

“…Fragile-X syndrome (FXS) and Neurofibromatosis of type 1 (NF-1) are two monogenic disorders sharing neurobehavioral symptoms and pathophysiological mechanisms. …”
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Visual Behavior Impairments as an Aberrant Sensory Processing in the Mouse Model of Fragile X Syndrome by Chloé Felgerolle, Chloé Felgerolle, Betty Hébert, Betty Hébert, Maryvonne Ardourel, Maryvonne Ardourel, Géraldine Meyer-Dilhet, Géraldine Meyer-Dilhet, Arnaud Menuet, Arnaud Menuet, Kimberley Pinto-Morais, Kimberley Pinto-Morais, Jean-Charles Bizot, Jacques Pichon, Jacques Pichon, Sylvain Briault, Sylvain Briault, Sylvain Briault, Olivier Perche, Olivier Perche, Olivier Perche

Subjects: “…Fragile X Syndrome…”
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Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype by Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W

“…César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle, Cali, ColombiaCorrespondence: Wilmar SaldarriagaHealth Faculty, Universidad del Valle, Calle 4b #36 00, Building 116 Office 29, Cali, ColombiaTel/Fax +57 3182800698Email wilmar.saldarriaga@correounivalle.edu.coAbstract: Fragile X syndrome (FXS), is an X-linked inherited genetic disease. …”
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Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells by Rakhi Pal, Aditi Bhattacharya

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A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome by Debra L. Reisinger, Rebecca C. Shaffer, Ernest V. Pedapati, Kelli C. Dominick, Craig A. Erickson

Subjects: “…fragile X syndrome…”
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