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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

Methods (San Diego, Calif.), 2017-01, Vol.113, p.139-151

2017

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An Intramolecular Salt Bridge Linking TDP43 RNA Binding, Protein Stability, and TDP43-Dependent Neurodegeneration

Cell reports (Cambridge), 2019-04, Vol.27 (4), p.1133-1150.e8

2019

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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Human mutation, 2013-01, Vol.34 (1), p.191-199

2013

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Highly Efficient, Rapid and Co-CRISPR-Independent Genome Editing in Caenorhabditis elegans

G3 : genes - genomes - genetics, 2017-11, Vol.7 (11), p.3693-3698

2017

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The Rac-GAP alpha2-chimaerin regulates hippocampal dendrite and spine morphogenesis

Molecular and cellular neuroscience, 2016-09, Vol.75, p.14-26

2016

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Protons Act as a Transmitter for Muscle Contraction in C. elegans

Cell, 2008-01, Vol.132 (1), p.149-160

2008

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EXP-1 is an excitatory GABA-gated cation channel

Nature neuroscience, 2003-11, Vol.6 (11), p.1145-1152

2003

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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

HGG advances, 2024-07, Vol.5 (3), p.100324, Article 100324

2024

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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2161-2172

2015

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Pharmacological characterization of the excitatory ‘Cys‐loop’ GABA receptor family in Caenorhabditis elegans

British journal of pharmacology, 2017-05, Vol.174 (9), p.781-795

2017

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α2-chimaerin is required for Eph receptor-class-specific spinal motor axon guidance and coordinate activation of antagonistic muscles

The Journal of neuroscience, 2015-02, Vol.35 (6), p.2344-2357

2015

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α2-Chimaerin Is an Essential EphA4 Effector in the Assembly of Neuronal Locomotor Circuits

Neuron (Cambridge, Mass.), 2007-09, Vol.55 (5), p.768-778

2007

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Neuroscience Angelman syndrome connections

Nature (London), 2010-12, Vol.468 (7326), p.907-908

2010

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Spillover transmission is mediated by the excitatory GABA receptor LGC-35 in C. elegans

The Journal of neuroscience, 2015-02, Vol.35 (6), p.2803-2816

2015

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Dual phosphorylation of Ric-8A enhances its ability to mediate G protein α subunit folding and to stimulate guanine nucleotide exchange

Science signaling, 2018-05, Vol.11 (532)

2018

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The GABA nervous system in C. elegans

Trends in neurosciences (Regular ed.), 2004-07, Vol.27 (7), p.407-414

2004

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A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Journal of visualized experiments, 2018-04 (134)

2018

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Angelman syndrome connections

Nature (London), 2010-12, Vol.468 (7326), p.907-908

2010

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The Diacylglycerol-Binding Protein α1-Chimaerin Regulates Dendritic Morphology

Proceedings of the National Academy of Sciences - PNAS, 2006-02, Vol.103 (6), p.1924-1929

2006

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The Caenorhabditis elegans unc-49 Locus Encodes Multiple Subunits of a Heteromultimeric GABA Receptor

The Journal of neuroscience, 1999-07, Vol.19 (13), p.5348-5359

1999

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SUMO Wrestles the Synapse

Science (American Association for the Advancement of Science), 2006-02, Vol.311 (5763), p.962-963

2006

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Angelman syndrome connections: neuronal networks in the brain that develop early in life underlie our ability to learn, remember and communicate. Genetic defects that perturb the fine-tuning of such neuronal connectivity can cause disease

Nature (London), 2010-12, Vol.468 (7326), p.907

2010

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[alpha]2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

The Journal of neuroscience, 2015-02, Vol.35 (6), p.2344-2357

2015

Volltextzugriff (PDF)

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Journal of visualized experiments, 2018-04 (134)

2018

Volltextzugriff (PDF)

The diacylglycerol-binding protein alpha 1-chimaerin regulates dendritic morphology

Proceedings of the National Academy of Sciences - PNAS, 2006-02, Vol.103 (6), p.1924-1929

2006

Volltextzugriff (PDF)

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Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

An Intramolecular Salt Bridge Linking TDP43 RNA Binding, Protein Stability, and TDP43-Dependent Neurodegeneration

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Highly Efficient, Rapid and Co-CRISPR-Independent Genome Editing in Caenorhabditis elegans

The Rac-GAP alpha2-chimaerin regulates hippocampal dendrite and spine morphogenesis

Protons Act as a Transmitter for Muscle Contraction in C. elegans

EXP-1 is an excitatory GABA-gated cation channel

A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Pharmacological characterization of the excitatory ‘Cys‐loop’ GABA receptor family in Caenorhabditis elegans

α2-chimaerin is required for Eph receptor-class-specific spinal motor axon guidance and coordinate activation of antagonistic muscles

α2-Chimaerin Is an Essential EphA4 Effector in the Assembly of Neuronal Locomotor Circuits

Neuroscience Angelman syndrome connections

Spillover transmission is mediated by the excitatory GABA receptor LGC-35 in C. elegans

Dual phosphorylation of Ric-8A enhances its ability to mediate G protein α subunit folding and to stimulate guanine nucleotide exchange

The GABA nervous system in C. elegans

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Angelman syndrome connections

The Diacylglycerol-Binding Protein α1-Chimaerin Regulates Dendritic Morphology

The Caenorhabditis elegans unc-49 Locus Encodes Multiple Subunits of a Heteromultimeric GABA Receptor

SUMO Wrestles the Synapse

Angelman syndrome connections: neuronal networks in the brain that develop early in life underlie our ability to learn, remember and communicate. Genetic defects that perturb the fine-tuning of such neuronal connectivity can cause disease

[alpha]2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

The diacylglycerol-binding protein alpha 1-chimaerin regulates dendritic morphology

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