Lista de obras - Thomas H. Gillingwater - Dominio Público Uruguay

A guide to modern quantitative fluorescent western blotting with troubleshooting strategies

artículo científico publicado en 2014

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

artículo científico publicado en 2004

A neurological phenotype in mice with DNA repair gene Ercc1 deficiency

artículo científico

A new core gross anatomy syllabus for medicine

scientific article published on 03 February 2016

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

artículo científico publicado en 2014

A rat model of slow Wallerian degeneration (WldS) with improved preservation of neuromuscular synapses

artículo científico publicado en 2005

Active Ribosome Profiling with RiboLace

article

Activity-dependent degeneration of axotomized neuromuscular synapses in Wld S mice

artículo científico publicado en 2015

Advances in therapy for spinal muscular atrophy: promises and challenges.

artículo científico publicado en 2018

Age-dependent synapse withdrawal at axotomised neuromuscular junctions in Wld(s) mutant and Ube4b/Nmnat transgenic mice

Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice

artículo científico publicado en 2010

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome

artículo científico publicado en 2012

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

artículo científico publicado en 2009

Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease

artículo científico

Anatomy: back in the public spotlight

scientific article published on 01 May 2015

ApoE isoform-specific regulation of regeneration in the peripheral nervous system

artículo científico publicado en 2011

Axotomy-dependent and -independent synapse elimination in organ cultures of Wld(s) mutant mouse skeletal muscle

artículo científico publicado en 2004

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.

artículo científico publicado en 2017

COVID-19 and anatomy: Stimulus and initial response

artículo científico publicado en 2020

Cellular and Molecular Anatomy of the Human Neuromuscular Junction

artículo científico publicado en 2017

Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo

artículo científico publicado en 2012

Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

artículo científico publicado en 2016

Comparative anatomy of the mammalian neuromuscular junction

artículo científico publicado en 2020

Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

artículo científico publicado en 2017

Counting the cost of spinal muscular atrophy

artículo científico publicado en 2016

Dawn of a new therapeutic era for spinal muscular atrophy.

artículo científico publicado en 2016

Delayed synaptic degeneration in the CNS of Wlds mice after cortical lesion

artículo científico publicado en 2006

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy.

artículo científico publicado en 2011

Design of a novel quantitative PCR (QPCR)-based protocol for genotyping mice carrying the neuroprotective Wallerian degeneration slow (Wlds) gene.

artículo científico publicado en 2007

Development of a supported self-directed learning approach for anatomy education

artículo científico publicado en 2011

Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.

artículo científico publicado en 2018

Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene

artículo científico publicado en 2007

Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis

artículo científico publicado en 2014

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

scientific article published on 03 March 2014

Editorial

Editorial - Journal of Anatomy January 2017

artículo científico publicado en 2017

Effect of limb lengthening on internodal length and conduction velocity of peripheral nerve

artículo científico publicado en 2013

Emerging therapies and challenges in spinal muscular atrophy

artículo científico publicado en 2016

Erratum to: Post-mortem brain analyses of the Lothian Birth Cohort 1936: extending lifetime cognitive and brain phenotyping to the level of the synapse.

artículo científico publicado en 2015

Examining the impact of audience response systems on student performance in anatomy education: a randomised controlled trial

artículo científico publicado en 2018

Executive deficits, not processing speed relates to abnormalities in distinct prefrontal tracts in amyotrophic lateral sclerosis

artículo científico publicado en 2013

Expression of the neuroprotective slow Wallerian degeneration (WldS) gene in non-neuronal tissues

artículo científico publicado en 2009

Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans

artículo científico publicado en 2018

Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans

artículo científico publicado en 2017

Historical Tropical Forest Reliance amongst the Wanniyalaeto (Vedda) of Sri Lanka: an Isotopic Perspective.

artículo científico publicado en 2018

How far away is spinal muscular atrophy gene therapy?

artículo científico publicado en 2015

Identity, developmental restriction and reactivity of extralaminar cells capping mammalian neuromuscular junctions

artículo científico publicado en 2008

Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target

scientific article published on 01 December 2014

Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy

artículo científico publicado en 2013

Induction of cell stress in neurons from transgenic mice expressing yellow fluorescent protein: implications for neurodegeneration research

artículo científico publicado en 2011

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.

artículo científico publicado en 2018

Involvement of protein kinase A in patterning of the mouse somatosensory cortex.

artículo científico publicado en 2006

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

artículo científico publicado en 2017

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

scientific article published on 29 August 2014

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy

artículo científico publicado en 2013

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

scientific article published on 01 November 2019

Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction

artículo científico publicado en 2014

Loss of translation elongation factor (eEF1A2) expression in vivo differentiates between Wallerian degeneration and dying-back neuronal pathology

artículo científico publicado en 2008

Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease

artículo científico

Modified cell cycle status in a mouse model of altered neuronal vulnerability (slow Wallerian degeneration; Wlds).

artículo científico publicado en 2008

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

scientific article published on 04 March 2019

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

scientific article published on 29 July 2009

Molecular neuropathology of the synapse in sheep with CLN5 Batten disease

artículo científico publicado en 2015

Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy

artículo científico publicado en 2012

Moving towards treatments for spinal muscular atrophy: hopes and limits

artículo científico publicado en 2015

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain

artículo científico publicado en 2009

Myo-GDNF increases non-functional polyinnervation of reinnervated mouse muscle

artículo científico publicado en 2004

NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction

scientific article published on December 2016

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology

artículo científico publicado en 2018

Neuromuscular junctions are stable in patients with cancer cachexia

scientific article published on 01 March 2020

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

artículo científico publicado en 2018

PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy

artículo científico publicado en 2014

Phospho-RNA sequencing with circAID-p-seq

artículo científico publicado en 2022

Post-mortem brain analyses of the Lothian Birth Cohort 1936: extending lifetime cognitive and brain phenotyping to the level of the synapse

artículo científico publicado en 2015

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

artículo científico publicado en 2009

Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of Dapk1.

artículo científico publicado en 2017

Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation

artículo científico publicado en 2004

Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

artículo científico publicado en 2009

Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo

artículo científico publicado en 2017

Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture.

artículo científico publicado en 2017

Putting gross anatomy into the curriculum: New anatomy syllabi for nursing and pharmacy students

artículo científico publicado en 2018

Quantitative tractography and tract shape modeling in amyotrophic lateral sclerosis

artículo científico publicado en 2013

Rapid loss of motor nerve terminals following hypoxia-reperfusion injury occurs via mechanisms distinct from classic Wallerian degeneration

article published in 2008

Region-specific depletion of synaptic mitochondria in the brains of patients with Alzheimer's disease

artículo científico publicado en 2018

Regional Molecular Mapping of Primate Synapses during Normal Healthy Aging

artículo científico publicado en 2019

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.

artículo científico publicado en 2016

Revealing the secrets of the dead

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

scientific article published on 12 August 2011

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting

scientific article published on 09 April 2019

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

artículo científico publicado en 2010

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

artículo científico publicado en 2013

SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy

scientific article published on 21 September 2020

Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy

article published in 2016

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

artículo científico publicado en 2007

Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology

artículo científico

Spinal muscular atrophy: going beyond the motor neuron

artículo científico

Studying synapses in human brain with array tomography and electron microscopy

artículo científico publicado en 2013

Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

scientific article published on 04 October 2016

Survival of motor neurone protein is required for normal postnatal development of the spleen

artículo científico publicado en 2016

Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis

artículo científico publicado en 2017

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

artículo científico publicado en 2008

Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

artículo científico publicado en 2015

Synaptic Ras GTPase activating protein regulates pattern formation in the trigeminal system of mice

scientific journal article

Synaptic protection in the brain of WldS mice occurs independently of age but is sensitive to gene-dose

artículo científico publicado en 2010

Synaptic vulnerability in neurodegenerative disease

artículo científico publicado en 2006

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

artículo científico publicado en 2016

Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis

artículo científico publicado en 2022

Targeting synaptic pathology in multiple sclerosis: fingolimod to the rescue? ⬇️

artículo científico publicado el 1 de febrero de 2012

Temporal Profiling of the Cortical Synaptic Mitochondrial Proteome Identifies Ageing Associated Regulators of Stability

artículo científico publicado en 2021

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

artículo científico publicado en 2018

The Anatomical Society's core anatomy syllabus for undergraduate nursing.

artículo científico publicado en 2018

The armadillo as a model for peripheral neuropathy in leprosy

artículo científico publicado en 2014

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy ⬇️

artículo científico publicado el 1 de julio de 2011

The importance of exposure to human material in anatomical education: A philosophical perspective

artículo científico publicado en 2008

The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: implications for pre-clinical studies and clinical trials for spinal muscular atrophy

artículo científico publicado en 2014

The neuroprotective WldS gene regulates expression of PTTG1 and erythroid differentiation regulator 1-like gene in mice and human cells

artículo científico publicado en 2006

The relationship of neuromuscular synapse elimination to synaptic degeneration and pathology: insights from WldS and other mutant mice

artículo científico publicado en 2003

The response of neuromuscular junctions to injury is developmentally regulated

artículo científico publicado en 2011

The role of survival motor neuron protein (SMN) in protein homeostasis

artículo científico publicado en 2018

The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice

artículo científico publicado en 2005

Therapeutic strategies for spinal muscular atrophy: SMN and beyond.

artículo científico publicado en 2017

Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting

artículo científico publicado en 2013

Transcriptional regulation of the AP-1 and Nrf2 target gene sulfiredoxin

artículo científico publicado en 2009

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis

artículo científico publicado en 2017

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

artículo científico publicado en 2018

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

artículo científico publicado en 2015

Ultrastructural correlates of synapse withdrawal at axotomized neuromuscular junctions in mutant and transgenic mice expressing the Wld gene

artículo científico publicado en 2003

Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands.

artículo científico publicado en 2018

Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse

artículo científico publicado en 2009

Using induced pluripotent stem cells (iPSC) to model human neuromuscular connectivity: promise or reality?

artículo científico

Using mouse cranial muscles to investigate neuromuscular pathology in vivo.

scientific article published on 15 July 2010

VAMP4 Is an Essential Cargo Molecule for Activity-Dependent Bulk Endocytosis

artículo científico publicado en 2015

VAPB interacts with and modulates the activity of ATF6.

artículo científico publicado en 2008

VCP binding influences intracellular distribution of the slow Wallerian degeneration protein, Wld(S).

artículo científico publicado en 2008

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

artículo científico publicado en 2016

Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits

artículo científico publicado en 2017

Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene.

artículo científico publicado en 2001

WldS prevents axon degeneration through increased mitochondrial flux and enhanced mitochondrial Ca2+ buffering

artículo científico publicado en 2012

aNMJ-morph: a simple macro for rapid analysis of neuromuscular junction morphology

scientific article published on 15 April 2020

mGluR5 regulates glutamate-dependent development of the mouse somatosensory cortex

artículo científico publicado en 2008

riboWaltz: Optimization of ribosome P-site positioning in ribosome profiling data

artículo científico publicado en 2018

Lista de obras de Thomas H. Gillingwater

A guide to modern quantitative fluorescent western blotting with troubleshooting strategies

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

A neurological phenotype in mice with DNA repair gene Ercc1 deficiency

A new core gross anatomy syllabus for medicine

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

A rat model of slow Wallerian degeneration (WldS) with improved preservation of neuromuscular synapses

Active Ribosome Profiling with RiboLace

Activity-dependent degeneration of axotomized neuromuscular synapses in Wld S mice

Advances in therapy for spinal muscular atrophy: promises and challenges.

Age-dependent synapse withdrawal at axotomised neuromuscular junctions in Wld(s) mutant and Ube4b/Nmnat transgenic mice

Age-related motor neuron degeneration in DNA repair-deficient Ercc1 mice

Altered maturation of the primary somatosensory cortex in a mouse model of fragile X syndrome

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

Analysis of gene expression in the nervous system identifies key genes and novel candidates for health and disease

Anatomy: back in the public spotlight

ApoE isoform-specific regulation of regeneration in the peripheral nervous system

Axotomy-dependent and -independent synapse elimination in organ cultures of Wld(s) mutant mouse skeletal muscle

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.

COVID-19 and anatomy: Stimulus and initial response

Cellular and Molecular Anatomy of the Human Neuromuscular Junction

Combining comparative proteomics and molecular genetics uncovers regulators of synaptic and axonal stability and degeneration in vivo

Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

Comparative anatomy of the mammalian neuromuscular junction

Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system

Counting the cost of spinal muscular atrophy

Dawn of a new therapeutic era for spinal muscular atrophy.

Delayed synaptic degeneration in the CNS of Wlds mice after cortical lesion

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy.

Design of a novel quantitative PCR (QPCR)-based protocol for genotyping mice carrying the neuroprotective Wallerian degeneration slow (Wlds) gene.

Development of a supported self-directed learning approach for anatomy education

Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.

Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene

Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

Editorial

Editorial

Editorial

Editorial - Journal of Anatomy January 2017

Effect of limb lengthening on internodal length and conduction velocity of peripheral nerve

Emerging therapies and challenges in spinal muscular atrophy

Erratum to: Post-mortem brain analyses of the Lothian Birth Cohort 1936: extending lifetime cognitive and brain phenotyping to the level of the synapse.

Examining the impact of audience response systems on student performance in anatomy education: a randomised controlled trial

Executive deficits, not processing speed relates to abnormalities in distinct prefrontal tracts in amyotrophic lateral sclerosis

Expression of the neuroprotective slow Wallerian degeneration (WldS) gene in non-neuronal tissues

Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans

Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans

Historical Tropical Forest Reliance amongst the Wanniyalaeto (Vedda) of Sri Lanka: an Isotopic Perspective.

How far away is spinal muscular atrophy gene therapy?

Identity, developmental restriction and reactivity of extralaminar cells capping mammalian neuromuscular junctions

Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target

Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy

Induction of cell stress in neurons from transgenic mice expressing yellow fluorescent protein: implications for neurodegeneration research

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.

Involvement of protein kinase A in patterning of the mouse somatosensory cortex.

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction

Loss of translation elongation factor (eEF1A2) expression in vivo differentiates between Wallerian degeneration and dying-back neuronal pathology

Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease

Modified cell cycle status in a mouse model of altered neuronal vulnerability (slow Wallerian degeneration; Wlds).

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

Molecular neuropathology of the synapse in sheep with CLN5 Batten disease

Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis

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

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy

Moving towards treatments for spinal muscular atrophy: hopes and limits

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain

Myo-GDNF increases non-functional polyinnervation of reinnervated mouse muscle

NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology

Neuromuscular junctions are stable in patients with cancer cachexia

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy

Phospho-RNA sequencing with circAID-p-seq

Post-mortem brain analyses of the Lothian Birth Cohort 1936: extending lifetime cognitive and brain phenotyping to the level of the synapse