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List of works by Thomas H. Gillingwater

A guide to modern quantitative fluorescent western blotting with troubleshooting strategies

scientific article

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

scientific article

A neurological phenotype in mice with DNA repair gene Ercc1 deficiency

scientific article published on 03 December 2007

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

scientific article

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

scientific article published in January 2005

Active Ribosome Profiling with RiboLace

article

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

scientific article

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

scientific article published on 9 February 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

scientific article published on 4 July 2010

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

scientific article published on 9 February 2012

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

scientific article

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

scientific article published on 11 February 2017

Anatomy: back in the public spotlight

scientific article published on 01 May 2015

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

scientific article

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

scientific article published in April 2004

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

scientific article

COVID-19 and anatomy: Stimulus and initial response

scientific article published on 06 July 2020

Cellular and Molecular Anatomy of the Human Neuromuscular Junction

scientific article

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

scientific article

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

scientific article

Comparative anatomy of the mammalian neuromuscular junction

scientific article published on 23 June 2020

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

scientific article published on 11 September 2017

Counting the cost of spinal muscular atrophy

scientific article published on 16 June 2016

Dawn of a new therapeutic era for spinal muscular atrophy.

scientific article

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

scientific article

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

scientific article published on 7 December 2011

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

scientific article published on 30 October 2007

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

scientific article published on 29 December 2011

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

scientific article published on 22 February 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

scientific article

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

scientific article published on 11 January 2014

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

scientific article published on 03 March 2014

Editorial

Editorial

Editorial

Editorial - Journal of Anatomy January 2017

scientific article published on 01 January 2017

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

scientific article published on March 2013

Emerging therapies and challenges in spinal muscular atrophy

scientific article

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

scientific article published on 9 December 2015

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

scientific article published on 01 February 2018

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

scientific article published on 20 September 2013

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

scientific article

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

scientific article published on 01 May 2018

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

scientific article published on 20 October 2017

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

scientific article

How far away is spinal muscular atrophy gene therapy?

scientific article

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

scientific article published on 11 November 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

scientific article published on 10 April 2013

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

scientific article

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

scientific article

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

scientific article published in May 2006

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

scientific article published in October 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

scientific article

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

scientific article

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

scientific article

Mechanisms underlying synaptic vulnerability and degeneration in neurodegenerative disease

scientific article published on June 2013

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

scientific article published on 20 June 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

scientific article

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

scientific article

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

scientific article

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

scientific article

Moving towards treatments for spinal muscular atrophy: hopes and limits

scientific article published on 28 April 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

scientific article published on 20 October 2009

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

scientific article published on January 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

scientific article published on 5 March 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

scientific article

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

scientific article

Phospho-RNA sequencing with circAID-p-seq

scientific article published on 01 February 2022

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

scientific article

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

scientific article published on 2 November 2009

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

scientific article

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

scientific article published in December 2004

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

scientific article

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

scientific article published on 29 September 2017

Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture.

scientific article published on 27 October 2017

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

scientific article published on 22 March 2018

Quantitative tractography and tract shape modeling in amyotrophic lateral sclerosis

scientific article

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

scientific article published on 06 September 2018

Regional Molecular Mapping of Primate Synapses during Normal Healthy Aging

scientific article published on 01 April 2019

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

scientific article

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

scientific article published on 12 August 2010

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

scientific article

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

scientific article published on 8 December 2007

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

scientific article published on 03 January 2017

Spinal muscular atrophy: going beyond the motor neuron

scientific article published on 08 December 2012

Studying synapses in human brain with array tomography and electron microscopy

scientific article

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

scientific article published on 11 October 2016

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

scientific article published on 22 December 2017

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

scientific article published on 01 January 2008

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

scientific article published on 9 April 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

scientific article

Synaptic vulnerability in neurodegenerative disease

scientific article published on August 2006

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

scientific article

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

scientific article published in 2022

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

scientific article published on February 1, 2012

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

scientific article published in 2021

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

scientific article published on 01 August 2018

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

scientific article published on 7 February 2018

The armadillo as a model for peripheral neuropathy in leprosy

scientific article

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

scientific article published on July 1, 2011

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

scientific article published on 01 November 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

scientific article published on 11 June 2014

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

scientific article published on 10 January 2006

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

scientific article published on June 2003

The response of neuromuscular junctions to injury is developmentally regulated

scientific article published on 12 January 2011

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

scientific article published on 05 June 2018

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

scientific article published on 11 January 2005

Therapeutic strategies for spinal muscular atrophy: SMN and beyond.

scientific article published on August 2017

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

scientific article

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

scientific article

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis

scientific article published in January 2017

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

scientific article published on 01 October 2018

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

scientific article

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

scientific article published in September 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.

scientific article

Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse

scientific article published on 04 July 2009

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

scientific article published on 02 December 2011

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

scientific article

VAPB interacts with and modulates the activity of ATF6.

scientific article published on 8 February 2008

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

scientific article published on 25 March 2008

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

scientific article published on 13 January 2016

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

scientific article published on 26 May 2017

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

scientific article

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

scientific article

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

scientific article published on December 2008

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

scientific article published on 13 August 2018

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

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