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Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.239-248

2019

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Antagomir-mediated suppression of microRNA-134 reduces kainic acid-induced seizures in immature mice

Scientific reports, 2021-01, Vol.11 (1), p.340-340, Article 340

2021

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Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function

PloS one, 2019-02, Vol.14 (2), p.e0212553-e0212553

2019

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The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function

Structure (London), 2011-06, Vol.19 (6), p.767-778

2011

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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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AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome

Molecular therapy. Nucleic acids, 2022-06, Vol.28, p.514-529

2022

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Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

JCI insight, 2021-08, Vol.6 (15)

2021

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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Journal of neurodevelopmental disorders, 2023-07, Vol.15 (1), p.22-21, Article 22

2023

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Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes

Biological psychiatry (1969), 2019-05, Vol.85 (9), p.752-759

2019

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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Molecular psychiatry, 2021-07, Vol.26 (7), p.3625-3633

2021

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Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

Child psychiatry and human development, 2021-08, Vol.52 (4), p.654-668

2021

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Structural Analysis of the Synaptic Protein Neuroligin and Its β-Neurexin Complex: Determinants for Folding and Cell Adhesion

Neuron (Cambridge, Mass.), 2007-12, Vol.56 (6), p.979-991

2007

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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities

Nature reviews. Drug discovery, 2021-09, Vol.20 (9), p.653-654

2021

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Transcellular Neuroligin-2 Interactions Enhance Insulin Secretion and Are Integral to Pancreatic β Cell Function

The Journal of biological chemistry, 2012-06, Vol.287 (24), p.19816-19826

2012

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Characterization of a human pluripotent stem cell-derived model of neuronal development using multiplexed targeted proteomics

Proteomics. Clinical applications, 2015-08, Vol.9 (7-8), p.684-694

2015

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Neuroligin Trafficking Deficiencies Arising from Mutations in the α/β-Hydrolase Fold Protein Family

The Journal of biological chemistry, 2010-09, Vol.285 (37), p.28674-28682

2010

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Computer-aided detection of polyps on oral contrast-enhanced CT colonography

American journal of roentgenology (1976), 2005-01, Vol.184 (1), p.105-108

2005

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Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability

Cancer research (Chicago, Ill.), 2004-10, Vol.64 (19), p.7039-7044

2004

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The Macromolecular Architecture of Extracellular Domain of αNRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition

Structure (London), 2010-08, Vol.18 (8), p.1044-1053

2010

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The Crystal Structure of the [alpha]-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function

Structure (London), 2011-06, Vol.19 (6), p.767-778

2011

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The Macromolecular Architecture of Extracellular Domain of aNRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition

Structure (London), 2010-08, Vol.18 (8), p.1044-1053

2010

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Neuroligin Trafficking Deficiencies Arising from Mutations in the a/b-Hydrolase Fold Protein Family

The Journal of biological chemistry, 2010-09, Vol.285 (37), p.28674-28682

2010

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Small angle x‐ray scattering and analytical ultracentrifugation characterization of the extracellular domain of α‐neurexin, alone and in complex with neuroligin‐1

The FASEB journal, 2008-03, Vol.22 (S1)

2008

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Structural Analysis of the Synaptic Protein Neuroligin and Its [beta]-Neurexin Complex: Determinants for Folding and Cell Adhesion

Neuron (Cambridge, Mass.), 2007-12, Vol.56 (6), p.979

2007

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Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function

Antagomir-mediated suppression of microRNA-134 reduces kainic acid-induced seizures in immature mice

Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function

The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function

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

AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

Structural Analysis of the Synaptic Protein Neuroligin and Its β-Neurexin Complex: Determinants for Folding and Cell Adhesion

Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities

Transcellular Neuroligin-2 Interactions Enhance Insulin Secretion and Are Integral to Pancreatic β Cell Function

Characterization of a human pluripotent stem cell-derived model of neuronal development using multiplexed targeted proteomics

Neuroligin Trafficking Deficiencies Arising from Mutations in the α/β-Hydrolase Fold Protein Family

Computer-aided detection of polyps on oral contrast-enhanced CT colonography

Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability

The Macromolecular Architecture of Extracellular Domain of αNRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition

The Crystal Structure of the [alpha]-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function

The Macromolecular Architecture of Extracellular Domain of aNRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition

Neuroligin Trafficking Deficiencies Arising from Mutations in the a/b-Hydrolase Fold Protein Family

Small angle x‐ray scattering and analytical ultracentrifugation characterization of the extracellular domain of α‐neurexin, alone and in complex with neuroligin‐1

Structural Analysis of the Synaptic Protein Neuroligin and Its [beta]-Neurexin Complex: Determinants for Folding and Cell Adhesion

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