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Towards Mechanism-based Treatments for Fragile X Syndrome

2019

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The translation of translational control by FMRP: therapeutic targets for FXS

Nature neuroscience, 2013-11, Vol.16 (11), p.1530-1536

2013

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A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

Neuron (Cambridge, Mass.), 2019-03, Vol.101 (6), p.1070-1088

2019

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Fragile X syndrome and associated disorders: Clinical aspects and pathology

Neurobiology of disease, 2020-03, Vol.136, p.104740-104740, Article 104740

2020

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Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management

Nature reviews. Neurology, 2016-07, Vol.12 (7), p.403-412

2016

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

The Journal of clinical investigation, 2012-12, Vol.122 (12), p.4314-4322

2012

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Das Fragile-X-Syndrom: Ein Ratgeber für Eltern

2, 2024

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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4391

2020

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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible

Nature neuroscience, 2018-10, Vol.21 (10), p.1404-1411

2018

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The molecular biology of FMRP: new insights into fragile X syndrome

Nature reviews. Neuroscience, 2021-04, Vol.22 (4), p.209-222

2021

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Altered Neuronal and Circuit Excitability in Fragile X Syndrome

Neuron (Cambridge, Mass.), 2015-08, Vol.87 (4), p.699-715

2015

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Advances in the treatment of fragile X syndrome

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.378-390

2009

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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

Pediatrics (Evanston), 2017-06, Vol.139 (Suppl 3), p.S194-S206

2017

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Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

Neuron (Cambridge, Mass.), 2012-10, Vol.76 (2), p.325-337

2012

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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (4), p.949-956

2015

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Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice

Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (41), p.E9707-E9716

2018

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Channelopathies in fragile X syndrome

Nature reviews. Neuroscience, 2021-05, Vol.22 (5), p.275-289

2021

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Metformin as targeted treatment in fragile X syndrome

Clinical genetics, 2018-02, Vol.93 (2), p.216-222

2018

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Metformin ameliorates core deficits in a mouse model of fragile X syndrome

Nature medicine, 2017-06, Vol.23 (6), p.674-677

2017

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FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

Cell, 2011-07, Vol.146 (2), p.247-261

2011

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Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model

The Journal of neuroscience, 2014-07, Vol.34 (30), p.9867-9879

2014

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Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome

Neuroscience and biobehavioral reviews, 2014-10, Vol.46 Pt 2, p.202-217

2014

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Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology

Proceedings of the National Academy of Sciences - PNAS, 2024-07, Vol.121 (31), p.e2407546121

2024

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Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning

Nature medicine, 2011-05, Vol.17 (5), p.559-565

2011

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Fragile X-associated tremor/ataxia syndrome

Annals of the New York Academy of Sciences, 2015-03, Vol.1338 (1), p.58-70

2015

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Towards Mechanism-based Treatments for Fragile X Syndrome

The translation of translational control by FMRP: therapeutic targets for FXS

A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders

Fragile X syndrome and associated disorders: Clinical aspects and pathology

Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management

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

Das Fragile-X-Syndrom: Ein Ratgeber für Eltern

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible

The molecular biology of FMRP: new insights into fragile X syndrome

Altered Neuronal and Circuit Excitability in Fragile X Syndrome

Advances in the treatment of fragile X syndrome

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice

Channelopathies in fragile X syndrome

Metformin as targeted treatment in fragile X syndrome

Metformin ameliorates core deficits in a mouse model of fragile X syndrome

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome

Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology

Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning

Fragile X-associated tremor/ataxia syndrome

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