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Neurodiversity Studies: A New Critical Paradigm

1st, 2020

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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

Developmental medicine and child neurology, 2019-12, Vol.61 (12), p.1439-1447

2019

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The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

Annual review of neuroscience, 2012-01, Vol.35 (1), p.417-443

2012

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A History of Intelligence and "Intellectual Disability": The Shaping of Psychology in Early Modern Europe

Goodey, C.F

1, 2011

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Genetic mimics of cerebral palsy

Movement disorders, 2019-05, Vol.34 (5), p.625-636

2019

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Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction

Molecular psychiatry, 2020-08, Vol.25 (8), p.1688-1703

2020

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Creatine biosynthesis and transport in health and disease

Biochimie, 2015-12, Vol.119, p.146-165

2015

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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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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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Disorders of creatine transport and metabolism

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.72-78

2011

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MECP2 disorders: from the clinic to mice and back

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.2914-2923

2015

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The emerging structural complexity of G-quadruplex RNAs

RNA (Cambridge), 2021-04, Vol.27 (4), p.390-402

2021

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Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

Neuron (Cambridge, Mass.), 2012-04, Vol.74 (1), p.49-56

2012

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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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FMRP regulates postnatal neuronal migration via MAP1B

eLife, 2024-05, Vol.12

2024

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Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

The Journal of neuroscience, 2007-05, Vol.27 (20), p.5338-5348

2007

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Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

Molecular cell, 2011-06, Vol.42 (5), p.673-688

2011

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CGG repeat in the FMR1 gene: size matters

Clinical genetics, 2011-09, Vol.80 (3), p.214-225

2011

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The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

Cell, 2008-09, Vol.134 (6), p.1042-1054

2008

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Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome

The Journal of neuroscience, 2013-12, Vol.33 (50), p.19518-19533

2013

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CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

Neuron (Cambridge, Mass.), 2013-09, Vol.79 (6), p.1169-1182

2013

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Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction

Human molecular genetics, 2017-03, Vol.26 (5), p.955-968

2017

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FMRP promotes RNA localization to neuronal projections through interactions between its RGG domain and G-quadruplex RNA sequences

eLife, 2020-06, Vol.9

2020

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Neurodiversity Studies: A New Critical Paradigm

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)

A History of Intelligence and "Intellectual Disability": The Shaping of Psychology in Early Modern Europe

Genetic mimics of cerebral palsy

Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Creatine biosynthesis and transport in health and disease

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

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

Disorders of creatine transport and metabolism

MECP2 disorders: from the clinic to mice and back

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

The emerging structural complexity of G-quadruplex RNAs

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

Altered Neuronal and Circuit Excitability in Fragile X Syndrome

FMRP regulates postnatal neuronal migration via MAP1B

Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

CGG repeat in the FMR1 gene: size matters

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction

FMRP promotes RNA localization to neuronal projections through interactions between its RGG domain and G-quadruplex RNA sequences

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