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List of works by Kevin Talbot

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A calm before the exome storm: coming together of dSMA and CMT2

scientific article published on 28 March 2012

A case of celiac disease mimicking amyotrophic lateral sclerosis

A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3

scientific article published on 02 February 2021

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

scientific article published on 11 October 2012

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

scientific article published on 31 August 2016

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes

scientific article published on 20 December 2005

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

scientific article published on 9 November 2011

A risk stratifying tool to facilitate safe late-stage percutaneous endoscopic gastrostomy in ALS.

scientific article published on 19 January 2017

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

scientific article published on 22 February 2017

ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function

scientific article

Advances in motor neurone disease.

scientific article published in January 2014

Advances in the clinical science of the motor unit: from motor neuron to neuromuscular junction

scientific article published on 01 October 2014

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

scientific article published on 9 February 2018

Altered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis

scientific article published on 13 September 2016

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

scientific article

Amyotrophic Lateral Sclerosis: network vulnerability and monosynaptic connections

scientific article published on 14 July 2020

Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology

scientific article published on 07 August 2020

Amyotrophic lateral sclerosis: cell vulnerability or system vulnerability?

scientific article

Amyotrophic lateral sclerosis: the complex path to precision medicine

scientific article published on 27 July 2018

An eye-tracking version of the trail-making test

scientific article (publication date: 2013)

Another gene for ALS: mutations in sporadic cases and the rare variant hypothesis

scientific article published on 09 September 2009

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

scientific article published on 09 August 2013

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

article

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

scientific article published on 01 April 2008

Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study

scientific article published on 14 August 2013

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

scientific article published on 25 November 2021

Biomarkers in amyotrophic lateral sclerosis

scientific article

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

scientific article published on 20 April 2016

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article

CSF chitinase proteins in amyotrophic lateral sclerosis

scientific article published on 23 May 2019

CSF neurofilament light chain reflects corticospinal tract degeneration in ALS.

scientific article

Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: indirect evidence from record linkage study

scientific article published on 9 November 2011

Catastrophic hyperkalaemia following administration of suxamethonium chloride to a patient with undiagnosed amyotrophic lateral sclerosis

Cerebellar tract alterations in PLS and ALS

scientific article published on 21 January 2019

Cerebrospinal fluid macrophage biomarkers in amyotrophic lateral sclerosis

scientific article published on 13 January 2018

Cerebrovascular injury as a risk factor for amyotrophic lateral sclerosis

scientific article published on 10 August 2015

Chapter 7 Spinal muscular atrophies and hereditary motor neuropathies

scientific article published on 01 January 2007

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

scientific article published on 01 April 2001

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

scientific article

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

scientific journal article

Clinical tool for predicting survival in ALS: do we need one?

scientific article published on 04 July 2016

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Comprehensive morphometry of subcortical grey matter structures in early-stage Parkinson's disease

scientific article published on 16 July 2013

Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis

scientific article published on 18 June 2010

Controversies and priorities in amyotrophic lateral sclerosis

scientific article

Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis

scientific article

Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy

scientific article

Defective cholesterol metabolism in amyotrophic lateral sclerosis

scientific article

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

scientific article published in April 1995

Development and validation of Spasticity Index-Amyotrophic Lateral Sclerosis

scientific article published on 21 February 2018

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

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

scientific article published on June 2016

Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice

scientific article published on 15 December 2009

Do twin studies still have anything to teach us about the genetics of amyotrophic lateral sclerosis? ⬇️

scientific article published on 01 December 2010

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

scientific article published on 13 May 2015

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

scientific article published on 17 February 2016

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

scientific article published on 22 October 2014

Expanding the genetics of huntingtonism

scientific article published on 20 December 2013

Extracellular vesicles in neurodegenerative disease - pathogenesis to biomarkers.

scientific article published on 13 May 2016

Eye-tracking in amyotrophic lateral sclerosis: A longitudinal study of saccadic and cognitive tasks

scientific article

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion

scientific article published on 10 April 2014

Familial versus sporadic amyotrophic lateral sclerosis--a false dichotomy? ⬇️

scientific article published on 03 November 2011

Fractional anisotropy in the posterior limb of the internal capsule and prognosis in amyotrophic lateral sclerosis

scientific article published in November 2012

Frequency and signature of somatic variants in 1461 human brain exomes

scientific article published on 14 September 2018

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

scientific article

Functional vitamin B12 deficiency

scientific article published in February 2009

Fundus fluorescein angiography in Susac's syndrome

scientific article published on 17 August 2017

GARS axonopathy: not every neuron's cup of tRNA

scientific article

Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype

scientific article published on 01 May 1997

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

scientific article published on 21 December 2016

Genetic screening in sporadic ALS and FTD.

scientific article published on 22 June 2017

Genetics of sporadic amyotrophic lateral sclerosis.

scientific article published on October 2007

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2.

scientific article published on 01 June 1997

HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.

scientific article published on 5 February 2018

Head and other physical trauma requiring hospitalisation is not a significant risk factor in the development of ALS

article

Heterotopic pregnancy

scientific article published on January 2011

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

scientific article

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes ⬇️

scientific article published on November 3, 2011

Identification of a potential non-coding RNA biomarker signature for amyotrophic lateral sclerosis

scientific article published on 17 June 2020

Identification of distinct circulating exosomes in Parkinson's disease

scientific article

Impaired corticomuscular and interhemispheric cortical beta oscillation coupling in amyotrophic lateral sclerosis

Improving access to medicines: empowering patients in the quest to improve treatment for rare lethal diseases

scientific article published on 9 July 2013

Improving clinical trial outcomes in amyotrophic lateral sclerosis

scientific article published on 18 December 2020

Increased cerebral functional connectivity in ALS: A resting-state magnetoencephalography study.

scientific article published on 21 March 2018

Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk

scientific article published in June 2016

Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis.

scientific article published on 23 June 2018

Integration of structural and functional magnetic resonance imaging in amyotrophic lateral sclerosis

scientific article published on 10 November 2011

Investigation of white matter pathology in ALS and PLS using tract-based spatial statistics

scientific article published in February 2009

Is good housekeeping the key to motor neuron survival?

scientific article published on 01 May 2008

July 2017 ENCALS statement on edaravone

scientific article

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

scientific article

Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial

scientific article

Magnetic resonance imaging of pathological processes in rodent models of amyotrophic lateral sclerosis

scientific article

Magnetic resonance spectroscopic imaging—of prognostic value in amyotrophic lateral sclerosis?

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

scientific article published on 07 May 2013

Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF

scientific article published on 27 June 2020

Mimics and chameleons in motor neurone disease ⬇️

scientific article published on April 24, 2013

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article published on 02 February 2017

Motor neuron disease: current management and future prospects

scientific article published on October 2015

Motor neuron disease: the bare essentials

scientific article published on 01 October 2009

Motor neurone disease

scientific article published on 01 September 2002

Motor neurone disease is a clinical diagnosis

scientific article published on December 1, 2012

Musculoskeletal diseases: from complex genetics to therapy

scientific article published on 01 June 2003

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

scientific article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

Myelin imaging in amyotrophic and primary lateral sclerosis

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

scientific article published on 24 September 2018

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

scientific article published on May 2015

Neuromuscular disorders: therapeutic advances

scientific article published on 01 January 2007

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

scientific article

Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo

scientific article published on 01 November 2019

Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease

scientific article published on 21 October 2020

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

scientific article published on 11 September 2013

Normal d-dimer levels do not exclude the diagnosis of cerebral venous sinus thrombosis

scientific article published on 01 November 2002

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

scientific article

Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study

scientific article published on 20 December 2019

Oculomotor dysfunction in amyotrophic lateral sclerosis: a comprehensive review

scientific article published on July 2011

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

scientific article published on 13 January 2018

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice.

scientific article published on 24 October 2013

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

scientific article

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

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

Predictors of cognitive impairment in an early stage Parkinson's disease cohort

scientific article

Primary angiitis of the CNS mimicking a spinal cord tumour

scientific article published on 01 December 2008

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

scientific article published on 26 March 2018

Progressive ataxia and palatal tremor associated with dense pontine calcification: A unique case

scientific article

Progressive hemiparesis (Mills syndrome) with aphasia in amyotrophic lateral sclerosis

scientific article published on 20 December 2013

Progressive unsteadiness in a 68-year-old man with longstanding abdominal pain and altered bowel habit

scientific article published on 01 August 2009

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

scientific article

Psychiatric disorders prior to amyotrophic lateral sclerosis

scientific article published on 19 October 2016

Quantitative FLAIR MRI in Amyotrophic Lateral Sclerosis

scientific article published on 29 May 2017

REM sleep behaviour disorder is associated with worse quality of life and other non-motor features in early Parkinson's disease.

scientific article

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

scientific article

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

scientific article published on October 2006

Reduction of elevated IGF-1 levels in coincident amyotrophic lateral sclerosis and acromegaly.

scientific article published on January 2010

Regional thalamic MRI as a marker of widespread cortical pathology and progressive frontotemporal involvement in amyotrophic lateral sclerosis

scholarly article by Sicong Tu et al published 26 July 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

scientific article published on 12 August 2011

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

scientific article published on 20 March 2013

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

scientific article published on 12 August 2010

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

Screwdriver headache: a case of traumatic intracranial hypotension

scientific article published on 01 August 2001

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

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

scientific article

Should all patients with ALS have genetic testing?

scientific article

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

scientific article published on 02 October 2018

Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling

scientific article published on October 1, 2003

Spinal muscular atrophy

scientific article published on 01 June 2001

Spinal muscular atrophy

scientific article published on 01 June 1999

Spinal muscular atrophy at the crossroads of basic science and therapy

scientific article

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape.

scientific article published in October 2017

Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model.

scientific article published on 28 March 2009

Swallowing and oropharyngeal dysphagia

scientific article published on 01 August 2014

Sweet food preference in amyotrophic lateral sclerosis

scientific article published on 10 January 2017

Systematic review of methodology used in ultrasound studies aimed at creating charts of fetal size.

scientific article published on 13 August 2012

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

scientific article

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

scientific article

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons

scientific article published on 17 December 2014

TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy

scientific article

The ALSFRS as an outcome measure in therapeutic trials and its relationship to symptom onset

scientific article published on 11 February 2016

The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA.

scientific article published on 31 May 2017

The clinical landscape for SMA in a new therapeutic era.

scientific article

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

scientific article published on July 1, 2011

The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis

scientific article

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 influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort

scientific article published on 12 October 2013

The longitudinal cerebrospinal fluid metabolomic profile of amyotrophic lateral sclerosis

scientific article

The molecular genetics of non-ALS motor neuron diseases.

scientific article published on 5 May 2006

The role of RNA processing in the pathogenesis of motor neuron degeneration.

scientific article published on 20 July 2010

The study of rare diseases: butterfly collecting or an entrée to understanding common conditions?

scientific article published on 01 August 2007

The two-year progression of structural and functional cerebral MRI in amyotrophic lateral sclerosis.

scientific article published on 18 December 2017

The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis

scientific article published on 23 June 2020

Therapeutic strategies for spinal muscular atrophy: SMN and beyond.

scientific article published on August 2017

Towards a TDP-43-Based Biomarker for ALS and FTLD.

scientific article published on 19 February 2018

Tracheostomy in motor neurone disease

scientific article published on 04 July 2019

Treatment of vasculitic peripheral neuropathy: a retrospective analysis of outcome

scientific article published on 01 January 2007

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

scientific article

T₂-weighted MRI detects presymptomatic pathology in the SOD1 mouse model of ALS.

scientific article

UFLC-derived CSF extracellular vesicle origin and proteome

scientific article published on 10 December 2018

Unmasking of incipient amyotrophic lateral sclerosis by botulinum toxin therapy

scientific article published on 12 February 2013

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

scientific article published on 13 January 2016

Vasoactive intestinal peptide, but not pituitary adenylate cyclase-activating peptide, modulates the responsiveness of the gonadotroph to LHRH in man.

scientific article published in June 1993

Vitamin E deficiency induced neurological disease in common variable immunodeficiency: two cases and a review of the literature of vitamin E deficiency.

scientific article published on July 2004

What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia?

scientific article published in December 2016

What's new in the molecular genetics of spinal muscular atrophy?

scientific article

Whole-exome sequencing of 228 patients with sporadic Parkinson's disease

scientific article published on 24 January 2017

Widespread grey matter pathology dominates the longitudinal cerebral MRI and clinical landscape of amyotrophic lateral sclerosis

scientific article

Wrangling RNA: Antisense oligonucleotides for neurological disorders

scientific article published on 01 September 2019

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