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Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

Cell, 2011-09, Vol.147 (1), p.235-246

2011

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Abnormal mTOR Activation in Autism

Annual review of neuroscience, 2018-07, Vol.41 (1), p.1-23

2018

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Functional Genomic Analyses Identify Pathways Dysregulated by Progranulin Deficiency, Implicating Wnt Signaling

Neuron (Cambridge, Mass.), 2011-09, Vol.71 (6), p.1030-1042

2011

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16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Nature communications, 2021-05, Vol.12 (1), p.2897-20, Article 2897

2021

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Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

The Journal of neuroscience, 2019-11, Vol.39 (47), p.9294-9305

2019

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Arthritis flares mediated by tissue-resident memory T cells in the joint

Cell reports (Cambridge), 2021-10, Vol.37 (4), p.109902-109902, Article 109902

2021

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Megalencephaly and Macrocephaly

Seminars in neurology, 2015-06, Vol.35 (3), p.277-287

2015

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Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates

Bio-protocol, 2022-05, Vol.12 (9), p.e4407

2022

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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Neurobiology of disease, 2024-01, Vol.190, p.106386-106386, Article 106386

2024

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A systems level, functional genomics analysis of chronic epilepsy

PloS one, 2011-06, Vol.6 (6), p.e20763-e20763

2011

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Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Cell reports (Cambridge), 2023-08, Vol.42 (8), p.112838-112838, Article 112838

2023

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Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

The Journal of experimental medicine, 2017-03, Vol.214 (3), p.681-697

2017

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Human-specific transcriptional regulation of CNS development genes by FOXP2

Nature (London), 2009-11, Vol.462 (7270), p.213-217

2009

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Human-Specific Transcriptional Networks in the Brain

Neuron (Cambridge, Mass.), 2012-08, Vol.75 (4), p.601-617

2012

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Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

eLife, 2021-07, Vol.10

2021

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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Nature communications, 2024-01, Vol.15 (1), p.584-22, Article 584

2024

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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

Frontiers in psychiatry, 2022-11, Vol.13, p.924956-924956

2022

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Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy

Neurobiology of disease, 2015-06, Vol.78, p.35-44

2015

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The organization of the transcriptional network in specific neuronal classes

Molecular systems biology, 2009-07, Vol.5 (1), p.291-n/a

2009

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Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia

Cell reports (Cambridge), 2020-06, Vol.31 (12), p.107780-107780, Article 107780

2020

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Substrate Sequence Influences γ-Secretase Modulator Activity, Role of the Transmembrane Domain of the Amyloid Precursor Protein

The Journal of biological chemistry, 2011-11, Vol.286 (46), p.39794-39803

2011

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Stroke in Primary Hyperoxaluria Type I

Journal of neuroimaging, 2014-07, Vol.24 (4), p.411-413

2014

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Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

Molecular psychiatry, 2018-11, Vol.23 (11), p.2167-2183

2018

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Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy

Human molecular genetics, 2016-06, Vol.25 (11), p.2168-2181

2016

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Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

Abnormal mTOR Activation in Autism

Functional Genomic Analyses Identify Pathways Dysregulated by Progranulin Deficiency, Implicating Wnt Signaling

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

Arthritis flares mediated by tissue-resident memory T cells in the joint

Megalencephaly and Macrocephaly

Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

A systems level, functional genomics analysis of chronic epilepsy

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

Human-specific transcriptional regulation of CNS development genes by FOXP2

Human-Specific Transcriptional Networks in the Brain

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy

The organization of the transcriptional network in specific neuronal classes

Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

Substrate Sequence Influences γ-Secretase Modulator Activity, Role of the Transmembrane Domain of the Amyloid Precursor Protein

Stroke in Primary Hyperoxaluria Type I

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy

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