Lista de obras - Robert W Burgess - Dominio Público Uruguay

A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes

artículo científico publicado en 2012

A brief review of recent Charcot-Marie-Tooth research and priorities

artículo científico publicado en 2015

A mouse model of heritable cerebrovascular disease

artículo científico publicado en 2010

A novel mouse Dscam mutation inhibits localization and shedding of DSCAM.

artículo científico publicado en 2012

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

artículo científico publicado en 2011

A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.

artículo científico publicado en 2010

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

artículo científico publicado en 2008

A spontaneous mutation in contactin 1 in the mouse

artículo científico publicado en 2011

A valid mouse model of AGRIN-associated congenital myasthenic syndrome.

artículo científico publicado en 2011

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.

artículo científico publicado en 2018

Accumulating Evidence for Axonal Translation in Neuronal Homeostasis

artículo científico publicado en 2017

Adhesion molecules in establishing retinal circuitry.

scientific article published on 05 August 2009

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

scientific article published on 01 December 2019

Alternatively spliced isoforms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction

scientific journal article

Analysis of Expression Pattern and Genetic Deletion of Netrin5 in the Developing Mouse

artículo científico publicado en 2016

CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4

artículo científico publicado en 2019

Candidate molecular mechanisms for establishing cell identity in the developing retina ⬇️

artículo científico publicado el 1 de diciembre de 2011

Cell adhesion to agrin presented as a nanopatterned substrate is consistent with an interaction with the extracellular matrix and not transmembrane adhesion molecules

artículo científico publicado en 2008

Cell autonomy of DSCAM function in retinal development

artículo científico publicado en 2011

Changes in brain β-amyloid deposition and aquaporin 4 levels in response to altered agrin expression in mice

artículo científico publicado en 2011

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

artículo científico publicado en 2011

Contact is repulsive, but please note the "enclosed"

artículo científico publicado en 2012

Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

scientific article published on 20 January 2016

Corrigendum: Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases

artículo científico publicado en 2016

DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina

scientific journal article

DSCAM promotes self-avoidance in the developing mouse retina by masking the functions of cadherin superfamily members

article published in the Proceedings of the National Academy of Sciences of the United States of America

DSCAMs: restoring balance to developmental forces

artículo científico publicado en 2012

Defects in eye development in transgenic mice overexpressing the heparan sulfate proteoglycan agrin.

artículo científico publicado en 2006

Development of the neuromuscular junction: genetic analysis in mice

artículo científico publicado en 1998

Differential expression of transcripts from syb, a Drosophila melanogaster gene encoding VAMP (synaptobrevin) that is abundant in non-neuronal cells

artículo científico publicado en 1993

Disruption and recovery of patterned retinal activity in the absence of acetylcholine.

artículo científico publicado en 2005

Distinct requirements for evoked and spontaneous release of neurotransmitter are revealed by mutations in the Drosophila gene neuronal-synaptobrevin.

artículo científico publicado en 1998

Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse

artículo científico publicado en 2001

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.

artículo científico publicado en 2015

Drosophila genetics and the functions of synaptic proteins.

artículo científico publicado en 1995

Editorial: Axonopathy in Neurodegenerative Disease

scientific article published on 23 October 2018

Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice.

artículo científico publicado en 2004

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

artículo científico publicado en 2015

Genetic evidence that relative synaptic efficacy biases the outcome of synaptic competition

artículo científico publicado en 2003

HSP90 Inhibitor, NVP-AUY922, Improves Myelination in Vitro and Supports the Maintenance of Myelinated Axons in Neuropathic Mice

artículo científico publicado en 2019

Identification and characterization of Drosophila genes for synaptic vesicle proteins.

artículo científico publicado en 1993

Imaging axonal transport of mitochondria in vivo

scientific article published on 10 June 2007

Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases

artículo científico publicado en 2015

Introduction to mechanisms of neural circuit formation.

artículo científico publicado en 2013

Lack of neuropathy-related phenotypes in hint1 knockout mice.

artículo científico publicado en 2014

Mapping sites responsible for interactions of agrin with neurons

artículo científico publicado en 2002

Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

scientific article published on 10 June 2016

Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?

scientific article published on 05 April 2019

Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles.

artículo científico publicado en 2014

Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryos

scientific journal article

Motor Axon Guidance of the Mammalian Trochlear and Phrenic Nerves: Dependence on the Netrin Receptor Unc5c and Modifier Loci

artículo científico publicado en 2006

Neurite arborization and mosaic spacing in the mouse retina require DSCAM.

artículo científico publicado en 2008

Neuromuscular disease models and analysis

artículo científico publicado en 2010

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice

artículo científico publicado en 2013

Neuronal clustering and fasciculation phenotype in Dscam- and Bax-deficient mouse retinas

artículo científico publicado en 2012

Novel axon projection after stress and degeneration in the Dscam mutant retina

artículo científico publicado en 2015

Rab3 dynamically controls protein composition at active zones.

artículo científico publicado en 2009

Replacing the PDZ-interacting C-termini of DSCAM and DSCAML1 with epitope tags causes different phenotypic severity in different cell populations.

artículo científico publicado en 2016

Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase

scientific journal article

Self-awareness in the retina

artículo científico publicado en 2015

Sensory neuron fate is developmentally perturbed by Gars mutations causing human neuropathy

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

artículo científico publicado en 2017

Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.

artículo científico publicado en 2016

T Cells from NOD-PerIg Mice Target Both Pancreatic and Neuronal Tissue

artículo científico publicado en 2020

The Down syndrome critical region regulates retinogeniculate refinement

artículo científico publicado en 2011

The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses

artículo científico publicado en 2014

The synaptic protein syntaxin1 is required for cellularization of Drosophila embryos

artículo científico publicado en 1997

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.

artículo científico publicado en 2017

Two-photon NADH imaging exposes boundaries of oxygen diffusion in cortical vascular supply regions

artículo científico publicado en 2010

p53-mediated neurodegeneration in the absence of the nuclear protein Akirin2

artículo científico publicado en 2022

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

artículo científico publicado en 2021

Lista de obras de Robert W Burgess

A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes

A brief review of recent Charcot-Marie-Tooth research and priorities

A mouse model of heritable cerebrovascular disease

A novel mouse Dscam mutation inhibits localization and shedding of DSCAM.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

A spontaneous mutation in contactin 1 in the mouse

A valid mouse model of AGRIN-associated congenital myasthenic syndrome.

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.

Accumulating Evidence for Axonal Translation in Neuronal Homeostasis

Adhesion molecules in establishing retinal circuitry.

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Alternatively spliced isoforms of nerve- and muscle-derived agrin: their roles at the neuromuscular junction

Analysis of Expression Pattern and Genetic Deletion of Netrin5 in the Developing Mouse

CRISPR/Cas9 interrogation of the mouse Pcdhg gene cluster reveals a crucial isoform-specific role for Pcdhgc4

Candidate molecular mechanisms for establishing cell identity in the developing retina ⬇️

Cell adhesion to agrin presented as a nanopatterned substrate is consistent with an interaction with the extracellular matrix and not transmembrane adhesion molecules

Cell autonomy of DSCAM function in retinal development

Changes in brain β-amyloid deposition and aquaporin 4 levels in response to altered agrin expression in mice

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

Contact is repulsive, but please note the "enclosed"

Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

Corrigendum: Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases

DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina

DSCAM promotes self-avoidance in the developing mouse retina by masking the functions of cadherin superfamily members

DSCAMs: restoring balance to developmental forces

Defects in eye development in transgenic mice overexpressing the heparan sulfate proteoglycan agrin.

Development of the neuromuscular junction: genetic analysis in mice

Differential expression of transcripts from syb, a Drosophila melanogaster gene encoding VAMP (synaptobrevin) that is abundant in non-neuronal cells

Disruption and recovery of patterned retinal activity in the absence of acetylcholine.

Distinct requirements for evoked and spontaneous release of neurotransmitter are revealed by mutations in the Drosophila gene neuronal-synaptobrevin.

Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.

Drosophila genetics and the functions of synaptic proteins.

Editorial: Axonopathy in Neurodegenerative Disease

Evidence for a conserved function in synapse formation reveals Phr1 as a candidate gene for respiratory failure in newborn mice.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Genetic evidence that relative synaptic efficacy biases the outcome of synaptic competition

HSP90 Inhibitor, NVP-AUY922, Improves Myelination in Vitro and Supports the Maintenance of Myelinated Axons in Neuropathic Mice

Identification and characterization of Drosophila genes for synaptic vesicle proteins.

Imaging axonal transport of mitochondria in vivo

Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases

Introduction to mechanisms of neural circuit formation.

Lack of neuropathy-related phenotypes in hint1 knockout mice.

Mapping sites responsible for interactions of agrin with neurons

Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions

Model validity for preclinical studies in precision medicine: precisely how precise do we need to be?

Morphological analysis of neuromuscular junction development and degeneration in rodent lumbrical muscles.

Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryos

Motor Axon Guidance of the Mammalian Trochlear and Phrenic Nerves: Dependence on the Netrin Receptor Unc5c and Modifier Loci

Neurite arborization and mosaic spacing in the mouse retina require DSCAM.

Neuromuscular disease models and analysis

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice

Neuronal clustering and fasciculation phenotype in Dscam- and Bax-deficient mouse retinas

Novel axon projection after stress and degeneration in the Dscam mutant retina

Rab3 dynamically controls protein composition at active zones.

Replacing the PDZ-interacting C-termini of DSCAM and DSCAML1 with epitope tags causes different phenotypic severity in different cell populations.

Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase

Self-awareness in the retina

Sensory neuron fate is developmentally perturbed by Gars mutations causing human neuropathy

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.

T Cells from NOD-PerIg Mice Target Both Pancreatic and Neuronal Tissue

The Down syndrome critical region regulates retinogeniculate refinement

The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses

The synaptic protein syntaxin1 is required for cellularization of Drosophila embryos

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.

Two-photon NADH imaging exposes boundaries of oxygen diffusion in cortical vascular supply regions

p53-mediated neurodegeneration in the absence of the nuclear protein Akirin2

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase