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List of works by Pamela Shaw

"Anything that makes life's journey better." Exploring the use of digital technology by people living with motor neurone disease.

scientific article published on 20 February 2017

A RANDOMIZED, PLACEBO-CONTROLLED TRIAL OF REPEATED IV ANTIBIOTIC THERAPY FOR LYME ENCEPHALOPATHY PROLONGED LYME DISEASE TREATMENT: ENOUGH IS ENOUGH

scientific article published on 01 January 2009

A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function

scientific article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

scientific article

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

scientific article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis

scientific article published on 31 August 2016

A neurological rarity not to be missed: cerebrotendinous xanthomatosis

scientific article published in October 2011

A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort

scientific article published on 23 April 2015

A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening.

scientific article published on 02 October 2013

A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis.

scientific article

A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis

scientific article

A quantitative autoradiographic study of [3H]kainate binding sites in the normal human spinal cord, brainstem and motor cortex

scientific article

A reduced astrocyte response to β-amyloid plaques in the ageing brain associates with cognitive impairment

scientific article

A zebrafish model exemplifies the long preclinical period of motor neuron disease

scientific article published on 26 June 2014

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

scientific article published on 15 May 2013

ALS: life and death in a bad neighborhood

scientific article published on 01 August 2006

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

scientific article published on 12 June 2013

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

Actions of 8-bromo-cyclic-GMP on neurones in the rat thalamus in vivo and in vitro

scientific article

Adaptation to culture of human embryonic stem cells and oncogenesis in vivo

article

Adipose-derived stem cells protect motor neurons and reduce glial activation in both <i>in vitro</i> and <i>in vivo</i> models of ALS

scientific article published on 27 March 2021

Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis

scientific article published on 13 November 2017

Alterations in the blood brain barrier in ageing cerebral cortex in relationship to Alzheimer-type pathology: a study in the MRC-CFAS population neuropathology cohort.

scientific article

Alterations of the blood–brain barrier in cerebral white matter lesions in the ageing brain

scientific article published on 29 September 2010

Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients

scientific article published on 11 July 2015

Amyotrophic lateral sclerosis

scientific article published on 05 October 2017

Amyotrophic lateral sclerosis

scientific article published on 20 October 2017

Amyotrophic lateral sclerosis: a consensus viewpoint on designing and implementing a clinical trial

scientific article published on June 2004

Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology

scientific article published in April 1998

An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis

scientific article

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

scientific article

An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease.

scientific article published on June 2010

An immunocytochemical study of the distribution of AMPA selective glutamate receptor subunits in the normal human motor system.

scientific article published in September 1996

An in vitro screening cascade to identify neuroprotective antioxidants in ALS

scientific article

Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways

scientific article published on 9 December 2002

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

scientific article published on 6 May 2015

Apoptosis in amyotrophic lateral sclerosis--what is the evidence?

scientific article

Apoptosis in amyotrophic lateral sclerosis: a review of the evidence.

scientific article

Assessing social isolation in motor neurone disease: a Rasch analysis of the MND Social Withdrawal Scale

scientific article published on 09 August 2013

Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness

scientific article published on 2 December 2015

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis

article

Astrocyte function and role in motor neuron disease: a future therapeutic target?

scientific article published on September 2009

Astrocyte phenotype in relation to Alzheimer-type pathology in the ageing brain

scientific article published on 30 June 2008

Autoradiographic comparison of the distribution of [3H]MK801 and [3H]CNQX in the human cerebellum during development and aging

scientific article published in July 1993

Autoradiographic distribution of binding sites for the non-NMDA receptor antagonist [3H]CNQX in human motor cortex, brainstem and spinal cord

scientific article published on 01 December 1993

Biomarkers in Motor Neuron Disease: A State of the Art Review

scientific article published on 03 April 2019

Brachial diplegia as a sequel to cardio-respiratory arrest: 'man-in-the-barrel syndrome'.

scientific article published in September 1990

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

scientific article published on 17 September 2009

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

scientific article published on 27 May 2015

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

scientific article published on 24 July 2013

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

scientific article

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

scientific article published on 10 October 2016

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

scientific article published on 09 October 2013

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

scientific article

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

scientific article published on 23 September 2016

C9orf72 expansion disrupts ATM-mediated chromosomal break repair.

scientific article

CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND) ⬇️

scientific article published on December 22, 1997

CSF and plasma amino acid levels in motor neuron disease: elevation of CSF glutamate in a subset of patients

scientific article

Calcium dysregulation in relation to Alzheimer-type pathology in the ageing brain.

scientific article published in December 2013

Calcium-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis

scientific article published in August 1997

Can Astrocytes Be a Target for Precision Medicine?

scientific article

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis

scientific article published on 20 April 2016

Cauda equina syndrome associated with multiple lumbar arachnoid cysts in ankylosing spondylitis: improvement following surgical therapy

scientific article published on December 1990

Chapter 17 Hereditary spastic paraparesis

scientific article published on 01 January 2007

Chapter 4 Molecular mechanisms of motor neuron degeneration in amyotrophic lateral sclerosis

scientific article published on 01 January 2007

Characterization of the caspase cascade in a cell culture model of SOD1-related familial amyotrophic lateral sclerosis: expression, activation and therapeutic effects of inhibition.

scientific article published on October 2005

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Chronic periphlebitis retinae in multiple sclerosis. A histopathological study

scientific article published in February 1987

Clinical features of hereditary spastic paraplegia due to spastin mutation

scientific article published on 01 July 2006

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

scientific article published on March 2012

Combined fused in sarcoma-positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)-plus phenotype

scientific article published on 19 February 2019

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

scientific article published on 10 December 2021

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis

scientific article

Comparison of the King's and MiToS staging systems for ALS.

scientific article

Complicated migraine resulting in blindness due to bilateral retinal infarction ⬇️

scientific article published on March 1, 1992

Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.

scientific article published on 20 October 2012

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.

scientific article published on 4 January 2013

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis

scientific article published on 03 July 2020

Conservative treatment of delayed cerebral radiation necrosis

scientific article published on December 1984

Contrasting effects of cerebrospinal fluid from motor neuron disease patients on the survival of primary motor neurons cultured with or without glia

scientific article published on 03 March 2011

Controversies and priorities in amyotrophic lateral sclerosis

scientific article

Convergent cholinergic activities in aging and Alzheimer's disease

scientific article published in May 1992

Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease

scientific article published on 01 January 2020

Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS ⬇️

scientific article (publication date: 22 April 2003)

Cough assistance to clear lungs of ALS patients with severe bulbar dysfunction: Not a good idea!

scientific article published on 16 October 2015

Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis

scientific article published on 31 March 2016

Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials

scientific article published on 10 July 2019

Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations

scientific article published in April 2001

Current developments in gene therapy for amyotrophic lateral sclerosis

scientific article published on 10 May 2015

DNA damage response and senescence in endothelial cells of human cerebral cortex and relation to Alzheimer's neuropathology progression: a population-based study in the Medical Research Council Cognitive Function and Ageing Study (MRC-CFAS) cohort

scientific article

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons

scientific article published on 14 April 2005

Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield

scientific article published on 16 September 2014

Development and characterisation of a glutamate-sensitive motor neurone cell line

scientific article

Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND).

scientific article published on 22 November 2011

Development of hepatocellular carcinoma in a murine model of nonalcoholic steatohepatitis induced by use of a high-fat/fructose diet and sedentary lifestyle

scientific article published on 17 March 2014

DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.

scientific article published on June 2016

Diagnosis and management of motor neurone disease

scientific article

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis

scientific article published on 10 April 2015

Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis.

scientific article published on 2 July 2014

Differential Localization of Voltage-Dependent Calcium Channel α1Subunits at the Human and Rat Neuromuscular Junction ⬇️

scientific article published on August 15, 1997

Differential expression of mGluR5 in human lumbosacral motoneurons.

scientific article

Differentiation of human adipose-derived stem cells into neuron/motoneuron-like cells for cell replacement therapy of spinal cord injury

scientific article published on 08 August 2019

Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

scientific article published on 30 December 2013

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

scientific journal article

Distribution of AMPA-selective glutamate receptor subunits in the human hippocampus and cerebellum

scientific article published on 01 July 1995

Distribution of alpha 1A, alpha 1B and alpha 1E voltage-dependent calcium channel subunits in the human hippocampus and parahippocampal gyrus

scientific article published in April 1996

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFdelta/delta mouse model of amyotrophic lateral sclerosis

scientific article

Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis

scientific article

Early Involvement of the Spinal Cord in Diabetic Peripheral Neuropathy

scientific article published on 01 December 2006

Early detection of motor dysfunction in the SOD1G93A mouse model of Amyotrophic Lateral Sclerosis (ALS) using home cage running wheels

scientific article

Early interneuron dysfunction in ALS: insights from a mutant sod1 zebrafish model

scientific article published on 31 December 2012

Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial.

scientific article published on 10 July 2015

Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial

scientific article published in February 2006

Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis

scientific article published on 25 June 2018

Embryonic stem cells and prospects for their use in regenerative medicine approaches to motor neurone disease.

scientific article published on October 2007

Erratum: Genetic inroads in familial ALS

scientific article published on 01 October 2001

Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness

scientific article

Evaluation of two different methods for per-oral gastrostomy tube placement in patients with motor neuron disease (MND): PIG versus PEG procedures

scientific article published on 16 June 2010

Evidence-based or arrogance-based medicine?

article

Excitatory amino acid neurotransmission, excitotoxicity and excitotoxins

scientific article published on June 1, 1992

Excitotoxicity and motor neurone disease: a review of the evidence

scientific article published on July 1994

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Expression of nitric oxide synthase in the spinal cord in amyotrophic lateral sclerosis

scientific article published on 01 October 1998

Expression of nitric oxide synthase isoforms in spinal cord in amyotrophic lateral sclerosis

scientific article published on 01 September 2000

Expression of the glial glutamate transporter EAAT2 in the human CNS: an immunohistochemical study ⬇️

scientific article published on December 1, 1997

Expression of vascular endothelial growth factor and its receptors in the central nervous system in amyotrophic lateral sclerosis.

scientific article

Factors influencing decision-making in relation to timing of gastrostomy insertion in patients with motor neurone disease

scientific article published on 11 December 2013

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

scientific article published on October 1996

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

scientific article published on 28 August 2007

Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness

scientific article published on 10 September 2020

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Gastrostomy use in motor neurone disease (MND): a review, meta-analysis and survey of current practice

scientific article published on 17 September 2012

Gene Therapy in the Nervous System: Failures and Successes.

scientific article

Gene expression profiling in human neurodegenerative disease

scientific article published on 14 August 2012

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

scientific article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Glial cells of the spinal cord and subcortical white matter up-regulate neuronal nitric oxide synthase in sporadic amyotrophic lateral sclerosis

scientific article published in October 2001

Glutamine synthetase activity and expression are not affected by the development of motor neuronopathy in the G93A SOD-1/ALS mouse

scientific article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

scientific article published on 01 May 2008

Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle weakness

scientific article published in October 2014

Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis

scientific article published on 7 February 2014

Hereditary spastic paraparesis: a review of new developments.

scientific article published in August 2000

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

scientific article published on December 2003

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

scientific article published on 01 December 2019

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

scientific article published on 01 August 1994

Imaging muscle as a potential biomarker of denervation in motor neuron disease

scientific article

Immune response in peripheral axons delays disease progression in SOD1(G93A) mice.

scientific article published on 07 October 2016

Immunocytochemical study of the distribution of the free radical scavenging enzymes CU/ZN superoxide dismutase (SOD1); MN superoxide dismutase (MN SOD) and catalase in the normal human spinal cord and in motor neuron disease

scientific article published on 01 April 1997

Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen

scientific article published on 15 May 2006

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

scientific article published in December 2014

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

scientific article published on 17 December 2013

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

scientific article published on 31 March 2007

Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

scientific article

Iron, selenium and glutathione peroxidase activity are elevated in sporadic motor neuron disease

scientific article published on 01 November 1994

July 2017 ENCALS statement on edaravone

scientific article

Kennedy's disease: Unusual molecular pathologic and clinical features ⬇️

scientific article published on July 1, 1998

LRP-1-mediated intracellular antibody delivery to the Central Nervous System

scientific article published on 20 July 2015

Large-scale pathways-based association study in amyotrophic lateral sclerosis

scientific article

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis?

scientific article

Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease

scientific article published on 17 October 2019

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.

scientific article

Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings ⬇️

scientific article published on November 1, 1991

Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis

scientific article published on 15 October 2015

MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

scientific article published on 01 May 2007

Management of sialorrhoea in motor neuron disease: a survey of current UK practice.

scientific article published on 07 May 2013

Mechanisms, models and biomarkers in amyotrophic lateral sclerosis

scientific article

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis

scientific article

Microarray RNA Expression Analysis of Cerebral White Matter Lesions Reveals Changes in Multiple Functional Pathways

article

Microarray analysis of the astrocyte transcriptome in the aging brain: relationship to Alzheimer's pathology and APOE genotype.

scientific article

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

scientific article

Microglia as potential contributors to motor neuron injury in amyotrophic lateral sclerosis

scientific article

Microglial activation in white matter lesions and nonlesional white matter of ageing brains

scientific article published on 01 December 2007

Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis

scientific article published on 03 November 2006

Mitochondrial involvement in amyotrophic lateral sclerosis

scientific article

Modulation of sensory and excitatory amino acid responses by nitric oxide donors and glutathione in the ventrobasal thalamus of the rat.

scientific article published in July 1997

Molecular and cellular pathways of neurodegeneration in motor neurone disease

scientific article

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

scientific article

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis ⬇️

scientific article published on November 1, 2011

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

scientific article published in March 2006

Motor neurone disease.

scientific article

Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.

scientific article published on 11 June 2015

Motor neurone disease: a practical update on diagnosis and management ⬇️

scientific article published on June 1, 2010

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

article

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Mutant SOD1 G93A microglia have an inflammatory phenotype and elevated production of MCP-1.

scientific article

Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS.

scientific article

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

scientific article

N-methyl-D-aspartate (NMDA) receptors in the spinal cord and motor cortex in motor neuron disease: a quantitative autoradiographic study using [3H]MK-801.

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Needs and preferences for psychological interventions of people with motor neuron disease

scientific article published on 12 July 2019

Neocortical transplants grafted into the newborn rat brain demonstrate a blood-brain barrier to macromolecules

scientific article published on 01 May 1989

Neuronal DNA damage response-associated dysregulation of signalling pathways and cholesterol metabolism at the earliest stages of Alzheimer-type pathology

scientific article published on 11 June 2015

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

scientific article

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis

scientific article published on 09 September 2019

Neutron Activation Analysis of Trace Elements in Motor Neuron Disease Spinal Cord

article

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

scientific article published on 26 November 2008

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

article

Non-NMDA receptors in motor neuron disease (MND): a quantitative autoradiographic study in spinal cord and motor cortex using [3H]CNQX and [3H]kainate

scientific article published on 01 August 1994

Non-invasive ventilation in motor neuron disease: an update of current UK practice.

scientific article published on 17 August 2011

Non-invasive ventilation in motor neuron disease: current UK practice.

scientific article

Nonverbal visual attention, but not recognition memory of learning, processes are impaired in motor neurone disease

scientific article published in May 1996

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

scientific article published in April 2010

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations

scientific article published on 24 October 2018

OUP accepted manuscript

article by Laura Ferraiuolo & Pamela J. Shaw published 2018 in Brain

Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism

scientific article published on 29 September 2016

Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.

scientific article published on 24 August 2015

Optimised and rapid pre-clinical screening in the SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS).

scientific article

Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial

scientific article published on 17 July 2019

Oxidative damage to protein in sporadic motor neuron disease spinal cord

scientific article published on 01 October 1995

Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target

scientific article

Oxidative stress in ALS: key role in motor neuron injury and therapeutic target

scientific article published on 04 December 2009

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

scientific article

PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons

scientific article published on 4 June 2010

PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons.

scientific article published on 27 February 2014

Parkinsonism in motor neuron disease: case report and literature review.

scientific article published on January 1995

Parvalbumin and calbindin D-28k in the human motor system and in motor neuron disease

scientific article published in August 1993

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

scientific article published in May 2007

Pattern of spread and prognosis in lower limb-onset ALS.

scientific article

Peroxynitrite and Hydrogen Peroxide Induced Cell Death in the NSC34 Neuroblastoma × Spinal Cord Cell Line: Role of Poly(ADP‐Ribose) Polymerase ⬇️

scientific article published on February 1, 1998

Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

scientific article

Physical activity as an exogenous risk factor in motor neuron disease (MND): a review of the evidence

scientific article

Poly(ADP-ribose) polymerase is found in both the nucleus and cytoplasm of human CNS neurons

scientific article published in July 1999

Population variation in oxidative stress and astrocyte DNA damage in relation to Alzheimer-type pathology in the ageing brain.

scientific article published on 5 May 2009

Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction

scientific article published on 23 September 2024

Preface

Presence and severity of non-alcoholic fatty liver disease in a large prospective primary care cohort.

scientific article published on 18 May 2011

Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre

scientific article published on 22 October 2019

Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis

scientific article published on 01 October 2005

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?

scientific article

Protein aggregation in motor neurone disorders.

scientific article published on December 2003

Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31].

scientific article

Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial.

scientific article

Quantitative Study of Synaptophysin Immunoreactivity of Cerebral Cortex and Spinal Cord in Motor Neuron Disease ⬇️

scientific article published on 01 September 1995

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

scientific article published on September 2016

Rasch analysis of the hospital anxiety and depression scale (HADS) for use in motor neurone disease

scientific article

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis

scientific article published on 17 June 2015

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

scientific article published on 12 April 2013

Respiratory management of motor neurone disease: a review of current practice and new developments

scientific article published on June 2012

Review: The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis.

scientific article published on June 2011

Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS.

scientific article published on January 2012

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

scientific article

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

scientific article

Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial

scientific article

Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis

scientific article published on 18 March 2005

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis

scientific article

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

article

Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis

scientific article published on September 2002

Selective loss of neurofilament proteins after exposure of differentiated human IMR-32 neuroblastoma cells to oxidative stress

scientific article published on October 1996

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

scientific article

Serum and cerebrospinal fluid biochemical markers of ALS

Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS).

scientific article

Simultaneous ALS and SCA2 associated with an intermediate-length <i>ATXN2</i> CAG-repeat expansion

scientific article published on 07 December 2020

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

scientific article

Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity.

scientific article published in January 2017

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)

article

Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features

Standards of palliative care for patients with amyotrophic lateral sclerosis: results of a European survey

scientific article published on 01 September 2001

Stiff-man syndrome and its variants

scientific article published in The Lancet

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

scientific article published on 19 February 2015

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

scientific article published on 28 January 2022

Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis

scientific article published on 3 December 2013

Superoxide-induced nitric oxide release from cultured glial cells.

scientific article published in August 2001

Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy

scientific article published in June 2010

TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons.

scientific article published on 25 May 2018

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

scientific article published on 19 January 2014

Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish

scientific article published on 19 February 2013

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

scientific article published on 9 November 2017

Telomere length is greater in ALS than in controls: a whole genome sequencing study

scientific article published on 01 April 2019

Tensor electrical impedance myography identifies bulbar disease progression in amyotrophic lateral sclerosis

scientific article published in 2022

Thalamic neuronal dysfunction and chronic sensorimotor distal symmetrical polyneuropathy in patients with type 1 diabetes mellitus

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

scientific article published on 22 June 2016

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

scientific article published on 13 July 2015

The El Escorial criteria: Strengths and weaknesses

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals

scientific article published on 01 November 1999

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

scientific article published on April 2015

The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design

scientific article published on 16 February 2018

The antemortem diagnosis of pyogenic liver abscess due to perforation of the gut by a foreign body

scientific article

The changing landscape of non-invasive ventilation in amyotrophic lateral sclerosis

scientific article published on 01 April 2012

The distribution of excitatory amino acid receptors in the normal human midbrain and basal ganglia with implications for Parkinson's disease: a quantitative autoradiographic study using [3H]MK-801, [3H]glycine, [3H]CNQX and [3H]kainate

scientific article published on September 1994

The effect of SOD1 mutation on cellular bioenergetic profile and viability in response to oxidative stress and influence of mutation-type.

scientific article

The expression of neuronal voltage-dependent calcium channels in human cerebellum

scientific article published on 01 December 1995

The expression of the glial glutamate transporter protein EAAT2 in motor neuron disease: an immunohistochemical study.

scientific article published in August 1998

The expression of the glutamate re-uptake transporter excitatory amino acid transporter 1 (EAAT1) in the normal human CNS and in motor neurone disease: an immunohistochemical study.

scientific article published in January 2002

The expression of voltage-dependent calcium channel beta subunits in human cerebellum ⬇️

scientific article (publication date: September 1997)

The expression of voltage-dependent calcium channel beta subunits in human hippocampus ⬇️

scientific article published on October 1, 1998

The impact of fatigue and psychosocial variables on quality of life for patients with motor neuron disease

scientific article published on 31 May 2013

The impact of gastrostomy in motor neurone disease: challenges and benefits from a patient and carer perspective

scientific article published on 21 May 2014

The impact on the family carer of motor neurone disease and intervention with noninvasive ventilation

scientific article

The incidence and nature of neurological morbidity following cardiac surgery: a review

The initiation of non-invasive ventilation for patients with motor neuron disease: patient and carer perceptions of obstacles and outcomes

scientific article published on 6 September 2012

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

scientific article published on 7 August 2006

The natural history of motor neuron disease: assessing the impact of specialist care

scientific article published on 29 May 2012

The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain.

scientific article published on 8 October 2015

The quantitative autoradiographic distribution of [3H]MK-801 binding sites in the normal human brainstem in relation to motor neuron disease

scientific article published in February 1992

The quantitative autoradiographic distribution of [3H]MK-801 binding sites in the normal human spinal cord

scientific article published on 01 January 1991

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

scientific article

The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis

scientific article published on 28 January 2016

The role of mitochondria in amyotrophic lateral sclerosis

scientific article published on 29 June 2017

The use of non-invasive ventilation at end of life in patients with motor neurone disease: a qualitative exploration of family carer and health professional experiences

scientific article

The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis

scientific article published on 09 May 2011

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

scientific article

Thyroid disease and the nervous system

scientific article published on January 2014

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

scientific article published on 01 April 2009

Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis.

scientific article

Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS.

scientific article

Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain

scientific article published on 06 January 2021

UK case control study of smoking and risk of amyotrophic lateral sclerosis

scientific article published on 17 April 2020

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

scientific article

Update on the glutamatergic neurotransmitter system and the role of excitotoxicity in amyotrophic lateral sclerosis

scientific article

Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease

scientific article published on 29 August 2018

Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials

scientific article

Use of non-invasive ventilation at end of life

Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review

scientific article

Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care: a UK-based pilot and feasibility study

scientific article published on 22 October 2019

Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: A validation study

scientific article published on 07 August 2012

Validation of quality of life instruments in ALS.

scientific article published in March 2004

Validation of the historical adulthood physical activity questionnaire (HAPAQ) against objective measurements of physical activity

scientific article

Vascular endothelial growth factor and the nervous system.

scientific article published in October 2004

Vascular endothelial growth factor counteracts the loss of phospho-Akt preceding motor neurone degeneration in amyotrophic lateral sclerosis

scientific article published on 01 October 2007

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

Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis

scientific article

White matter lesions in an unselected cohort of the elderly: astrocytic, microglial and oligodendrocyte precursor cell responses

scientific article

White matter lesions in an unselected cohort of the elderly: molecular pathology suggests origin from chronic hypoperfusion injury

scientific article

Wild-type but not mutant SOD1 transgenic astrocytes promote the efficient generation of motor neuron progenitors from mouse embryonic stem cells

scientific article

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

ZNStress: a high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis

scientific article published on 26 July 2016

[3H]d-aspartate binding sites in the normal human spinal cord and changes in motor neuron disease: a quantitative autoradiographic study

scientific article published on 01 August 1994

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