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CDKL5 deficiency disorder: a pathophysiology of neural maintenance

The Journal of clinical investigation, 2021-11, Vol.131 (21)

2021

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The Subtype of GluN2 C-terminal Domain Determines the Response to Excitotoxic Insults

Neuron (Cambridge, Mass.), 2012-05, Vol.74 (3), p.543-556

2012

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Delayed recruitment of activity‐dependent bulk endocytosis in Fmr1 knockout neurons

Journal of neurochemistry, 2024-09, Vol.168 (9), p.3019-3033

2024

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FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis

The Journal of neuroscience, 2022-02, Vol.42 (8), p.1618-1628

2022

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Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology

Nature communications, 2022-01, Vol.13 (1), p.135-135, Article 135

2022

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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

PloS one, 2016-06, Vol.11 (6), p.e0157758-e0157758

2016

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Medial septal GABAergic neurons reduce seizure duration upon optogenetic closed-loop stimulation

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1576-1589

2021

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NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease

International journal of molecular sciences, 2022-09, Vol.23 (19), p.11392

2022

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Mechanisms regulating input-output function and plasticity of neurons in the absence of FMRP

Brain research bulletin, 2021-10, Vol.175, p.69-80

2021

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Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals

The Journal of neuroscience, 2023-03, Vol.43 (11), p.2002-2020

2023

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Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex

Nature communications, 2019-10, Vol.10 (1), p.4814-18, Article 4814

2019

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Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder

Brain (London, England : 1878), 2020-03, Vol.143 (3), p.716-718

2020

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Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome

Science translational medicine, 2019-05, Vol.11 (494)

2019

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Selective vulnerability of inhibitory networks in multiple sclerosis

Acta neuropathologica, 2021-03, Vol.141 (3), p.415-429

2021

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Altered dendritic spine function and integration in a mouse model of fragile X syndrome

Nature communications, 2019-10, Vol.10 (1), p.4813-14, Article 4813

2019

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Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen

Science translational medicine, 2012-09, Vol.4 (152), p.152ra128

2012

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GRIN2A-related disorders: genotype and functional consequence predict phenotype

Brain (London, England : 1878), 2019-01, Vol.142 (1), p.80-92

2019

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Cell-Type-Specific Translation Profiling Reveals a Novel Strategy for Treating Fragile X Syndrome

Neuron (Cambridge, Mass.), 2017-08, Vol.95 (3), p.550-563.e5

2017

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Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Nature communications, 2022-06, Vol.13 (1), p.3236-3236, Article 3236

2022

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Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome

Cell reports (Cambridge), 2020-08, Vol.32 (6), p.107988-107988, Article 107988

2020

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Stimulated emission depletion (STED) microscopy reveals nanoscale defects in the developmental trajectory of dendritic spine morphogenesis in a mouse model of fragile X syndrome

The Journal of neuroscience, 2014-04, Vol.34 (18), p.6405-6412

2014

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Expression of mRNA Encoding Mcu and Other Mitochondrial Calcium Regulatory Genes Depends on Cell Type, Neuronal Subtype, and Ca2+ Signaling

PloS one, 2016-02, Vol.11 (2), p.e0148164-e0148164

2016

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Cross-species considerations in models of neurodevelopmental disorders

Trends in neurosciences (Regular ed.), 2022-03, Vol.45 (3), p.171-172

2022

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A comparison of basal and activity-dependent exon splicing in cortical-patterned neurons of human and mouse origin

Frontiers in molecular neuroscience, 2024-08, Vol.17, p.1392408

2024

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Maturation and electrophysiological properties of human pluripotent stem cell‐derived oligodendrocytes

Stem cells (Dayton, Ohio), 2016-04, Vol.34 (4), p.1040-1053

2016

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CDKL5 deficiency disorder: a pathophysiology of neural maintenance

The Subtype of GluN2 C-terminal Domain Determines the Response to Excitotoxic Insults

Delayed recruitment of activity‐dependent bulk endocytosis in Fmr1 knockout neurons

FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis

Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

Medial septal GABAergic neurons reduce seizure duration upon optogenetic closed-loop stimulation

NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease

Mechanisms regulating input-output function and plasticity of neurons in the absence of FMRP

Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals

Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex

Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder

Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome

Selective vulnerability of inhibitory networks in multiple sclerosis

Altered dendritic spine function and integration in a mouse model of fragile X syndrome

Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Cell-Type-Specific Translation Profiling Reveals a Novel Strategy for Treating Fragile X Syndrome

Excess ribosomal protein production unbalances translation in a model of Fragile X Syndrome

Input-Output Relationship of CA1 Pyramidal Neurons Reveals Intact Homeostatic Mechanisms in a Mouse Model of Fragile X Syndrome

Stimulated emission depletion (STED) microscopy reveals nanoscale defects in the developmental trajectory of dendritic spine morphogenesis in a mouse model of fragile X syndrome

Expression of mRNA Encoding Mcu and Other Mitochondrial Calcium Regulatory Genes Depends on Cell Type, Neuronal Subtype, and Ca2+ Signaling

Cross-species considerations in models of neurodevelopmental disorders

A comparison of basal and activity-dependent exon splicing in cortical-patterned neurons of human and mouse origin

Maturation and electrophysiological properties of human pluripotent stem cell‐derived oligodendrocytes

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