C. Shaw

L. Goldstein, A. Al-Chalabi, C. Shaw, 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS

G. Breen, A. Al-Chalabi, C. Shaw, 2014, PloS one.

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

J. De Belleroche, C. Shaw, Bradley N Smith, 2013, Free radical biology & medicine.

Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis

J. Powell, C. Shaw, P. Leigh, 2001, Annals of neurology.

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

J. Ule, M. Kayikci, T. Hortobágyi, 2011, Nature neuroscience.

Cytoplasmic TDP-43 is involved in cell fate during stress recovery

C. Shaw, C. Troakes, B. Rogelj, 2021, Human molecular genetics.

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

C. Shaw, H. Motaln, B. Rogelj, 2019, Journal of Cell Science.

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

C. Shaw, C. Troakes, Bradley N Smith, 2019, Brain : a journal of neurology.

Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease

T. Hortobágyi, C. Shaw, C. Troakes, 2016, Neurobiology of Aging.

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

T. Hortobágyi, C. Shaw, C. Vance, 2015, Acta neuropathologica communications.

Axonal transport of TDP-43 mRNA granules in neurons is impaired by ALS-causing mutations

K. Eggan, T. Maniatis, C. Shaw, 2014 .

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

C. Shaw, V. Tripathi, S. Guthrie, 2014, Neurobiology of Disease.

Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

T. Maniatis, C. Shaw, M. Carrasco, 2014, PloS one.

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

Nejc Haberman, Tomaž Curk, Jernej Ule, 2012, Scientific Reports.

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

T. Hortobágyi, C. Shaw, Bradley N Smith, 2012, Acta Neuropathologica.

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

T. Hortobágyi, A. Al-Chalabi, C. Shaw, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

Carl D Langefeld, Aleksey Shatunov, Gabriele Mora, 2013, Neurobiology of Aging.

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

A. Goris, Robert H. Brown, C. Broeckhoven, 2012, Neurobiology of Aging.

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

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse

A. Goris, B. Dubois, S. Boonen, 2010, Neurology.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Ewout J N Groen, Machiel J Zwarts, Fernando Rivadeneira, 2009, Nature Genetics.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

A. Al-Chalabi, C. Shaw, C. Troakes, 2019, Neurobiology of Aging.

Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments

C. Shaw, P. Leigh, A. Grierson, 2003, The Journal of cell biology.

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2003, Annals of neurology.

Prognostic modelling of therapeutic interventions in amyotrophic lateral sclerosis

P. Sham, A. Al-Chalabi, C. Shaw, 2002, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Expression of the Fe65 adapter protein in adult and developing mouse brain

C. Shaw, J. Cooper, K. Lau, 2002, Neuroscience.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

M. Owen, J. Powell, A. Al-Chalabi, 2022, bioRxiv.

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

C. Shaw, Jack W Miller, C. Vance, 2016, Brain : a journal of neurology.

Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS

C. Shaw, R. Bowser, G. Shaw, 2011, Journal of neurochemistry.

Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosis

C. Shaw, T. Siddique, M. Dragunow, 2022, bioRxiv.

Overriding FUS autoregulation in mice triggers gain-of-toxic 1 dysfunctions in RNA metabolism and autophagy-lysosome axis 2 3

Debbie, Shuying, Gene W. Yeo, 2022 .

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

C. Shaw, Bradley N Smith, C. Vance, 2015, Neurobiology of Aging.

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Gene W. Yeo, C. Shaw, L. Tessarollo, 2013, Proceedings of the National Academy of Sciences.

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

T. Hortobágyi, C. Shaw, C. Troakes, 2013, Human molecular genetics.

Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology

T. Hortobágyi, C. Shaw, P. Leigh, 2010, Neuroscience.

Amyotrophic lateral sclerosis mutant VAPB transgenic mice develop TDP-43 pathology

T. Hortobágyi, C. Shaw, Enik, 2022 .

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

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

C. Lewis, J. Powell, A. Al-Chalabi, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

Annelot M. Dekker, Raymond D. Schellevis, A. Al-Chalabi, 2018, Annals of neurology.

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

Ashley R. Jones, S. Newhouse, J. Powell, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

A. Al-Chalabi, C. Shaw, M. Turner, 2019, JMIR mHealth and uHealth.

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import

C. Shaw, G. Guncar, B. Rogelj, 2015, Journal of Cell Science.

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

J. Ule, C. Shaw, C. Troakes, 2013, Cell reports.

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.

C. Shaw, A. Taylor, K. Mills, 2004, Journal of Neurology.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

J. Schulz, C. Shaw, L. Schöls, 2004, Nature Genetics.

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

C. Shaw, P. Leigh, A. Grierson, 2002, Human molecular genetics.

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

K. Shianna, D. Goldstein, M. Weale, 2007, Brain : a journal of neurology.

No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS

J. Powell, A. Al-Chalabi, C. Shaw, 2004, Neurology.

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

Ashley R. Jones, S. Newhouse, A. Al-Chalabi, 2019, Acta Neuropathologica Communications.

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Annelot M. Dekker, A. Al-Chalabi, C. Shaw, 2019, Neurobiology of Aging.

University of Groningen Mapping of Gene Expression Reveals CYP 27 A 1 as a Susceptibility Gene for Sporadic

Ewout J. N. Groen, S. Horvath, A. Hofman, 2012 .

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

Robert H. Brown, F. Baas, A. Al-Chalabi, 2018, Neurobiology of Aging.

Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

F. Baas, J. Belleroche, A. Al-Chalabi, 2017 .

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

T. Hortobágyi, C. Shaw, C. Troakes, 2011, Acta Neuropathologica.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

N. Wray, D. Lancet, M. Snyder, 2020, Cell reports.

Neurofilament subunit (NFL) head domain phosphorylation regulates axonal transport of neurofilaments.

C. Shaw, Christopher C. J. Miller, D. McLoughlin, 2009, European journal of cell biology.

Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

T. Hortobágyi, A. Al-Chalabi, C. Shaw, 2011, Acta Neuropathologica.

Prediction of personalised prognosis in patients with amyotrophic lateral sclerosis: development and validation of a prediction model

Annelot M. Dekker, A. Al-Chalabi, C. Shaw, 2018 .

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.

S. Gygi, J. Tapia, Yong Yu, 2012, Cell reports.

Phenotypic differences between African and white patients with motor neuron disease: a case-control study

S. Rabe-Hesketh, C. Shaw, P. Leigh, 2000, Journal of neurology, neurosurgery, and psychiatry.

Phenotypic di V erences between African and white patients with motor neuron disease: a case-control study

S. Rabe-Hesketh, C. Shaw, P. Leigh, 2000 .

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

C. Heyser, L. Petrucelli, C. Shaw, 2016, Neuron.

Clinical grand round: A rapidly progressive pyramidal and extrapyramidal syndrome with a supranuclear gaze palsy

A. Bronstein, C. Shaw, A. Lees, 2005, Movement disorders : official journal of the Movement Disorder Society.

Association of apolipoprotein E ∈4 allele with bulbar-onset motor neuron disease

J. Powell, C. Shaw, P. Leigh, 1996, The Lancet.

Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease.

P. Sham, D. Ball, J. Powell, 1996, Lancet.

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

S. Finkbeiner, C. Shaw, B. Bilican, 2014, Nature chemical biology.

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

C. Shaw, C. Troakes, S. Al-Sarraj, 2013, Acta Neuropathologica.

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

C. Shaw, C. Troakes, S. Al-Sarraj, 2015, Acta Neuropathologica Communications.

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

J. Ule, M. Kayikci, T. Hortobágyi, 2011, Nature neuroscience.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Emily A. Scarborough, J. Trojanowski, A. Pestronk, 2013 .

Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study

A. Al-Chalabi, C. Shaw, R. Orrell, 2008, Neuroepidemiology.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

G. Comi, S. Corti, C. Shaw, 2015, Journal of Neurology.

Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs sporadic ALS

D. Brooks, A. Al-Chalabi, C. Shaw, 2007, Neurology.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Erratum: Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (Neuron (2017) 94(2) (322–336.e5)(S0896627317302386)(10.1016/j.neuron.2017.03.026))

W. Talbot, C. Shaw, S. Topp, 2017 .

Amyotrophic lateral sclerosis in an urban setting

A. Al-Chalabi, C. Shaw, M. Turner, 2006, Journal of Neurology.

Evidence of an environmental effect on survival in ALS

A. Al-Chalabi, C. Shaw, P. Leigh, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.

D. Lancet, M. Snyder, A. Al-Chalabi, 2021, Cell reports.

C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis

A. Hofman, A. Uitterlinden, Robert H. Brown, 2014 .

Identification of a Novel, Membrane-Associated Neuronal Kinase, Cyclin-Dependent Kinase 5/p35-Regulated Kinase

C. Shaw, P. Leigh, P. Leigh, 2003, The Journal of Neuroscience.

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

C. Shaw, C. Vance, M. Falchi, 2010, Proceedings of the National Academy of Sciences.

Use of human intravenous immunoglobulin in lower motor neuron syndromes

C. Shaw, P. Leigh, C. Ellis, 1999, Journal of neurology, neurosurgery, and psychiatry.

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia

C. Shaw, F. Hirth, J. Gallo, 2014, Acta Neuropathologica.

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein

C. Shaw, A. Taylor, K. Mills, 2004, Journal of Neurology.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

L. Petrucelli, C. Shaw, C. Troakes, 2017, Human molecular genetics.

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue

C. Shaw, C. Vance, M. Dragunow, 2017, Neurobiology of Aging.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2019, bioRxiv.

ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells

C. Shaw, M. Ruepp, A. Nishimura, 2021, Scientific Reports.

Mutations in all five exons of SOD‐1 may cause ALS

J. Powell, A. Al-Chalabi, C. Shaw, 1998, Annals of neurology.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Amyotrophic Lateral Sclerosis in South-East England: A Population-Based Study

A. Al-Chalabi, C. Shaw, P. Leigh, 2007, Neuroepidemiology.

Amyotrophic lateral sclerosis in an urban setting A population based

A. Al-Chalabi, C. Shaw, P. Leigh, 2007 .

Survival of patients with ALS following institution of enteral feeding is related to pre‐procedure oximetry: A retrospective review of 98 patients in a single centre

A. Al-Chalabi, C. Shaw, P. Sidhu, 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, P. Leigh, 1998, Journal of neurology, neurosurgery, and psychiatry.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Claire L. Simpson, R. Ophoff, H. Horvitz, 2009, Proceedings of the National Academy of Sciences.

Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD

C. Shaw, Youn-bok Lee, Keith Mayl, 2021, Biomedicines.

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

C. Shaw, Jack W Miller, S. Topp, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Edinburgh Explorer Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells

T. Maniatis, C. Shaw, M. Carrasco, 2018 .

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

C. Shaw, Alessio Vagnoni, Christopher C. J. Miller, 2012, Human molecular genetics.

C9ORF72 and UBQLN2 are genetic causes of ALS in New Zealand

Curtis, C. Shaw, C. Vance, 2016 .

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

C. Shaw, C. Troakes, S. Al-Sarraj, 2015, Acta Neuropathologica Communications.

Gigaxonin is associated with the Golgi and dimerises via its BTB domain

C. Shaw, P. Leigh, Christopher C. J. Miller, 2004, Neuroreport.

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

Claire L. Simpson, R. Ophoff, H. Horvitz, 2008, Human molecular genetics.

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

C. Shaw, C. Vance, K. Williams, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Hereditary pure lower motor neuron disease with adult onset and rapid progression

G. Jansen, C. Shaw, L. H. van den Berg, 2001, Journal of Neurology.

Cuznsod‐associated amyotrophic lateral sclerosis

C. Shaw, P. Leigh, H. Idrisoğlu, 1997, Annals of neurology.

A clinical tool for predicting survival in ALS

A. Al-Chalabi, C. Shaw, P. Leigh, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone disease.

A. Al-Chalabi, C. Shaw, T. Rittman, 2010, Journal of human nutrition and dietetics : the official journal of the British Dietetic Association.

Natural history and clinical features of the flail arm and flail leg ALS variants

A. Al-Chalabi, C. Shaw, P. Leigh, 2009, Neurology.

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

Melanie Y. White, D. Paterson, R. Ortega, 2022, Brain : a journal of neurology.

C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, A. Chiò, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

pNfH is a promising biomarker for ALS

C. Shaw, P. Andersen, R. Bowser, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease

C. Shaw, C. Troakes, P. Heimann, 2011, BMC Neuroscience.

Overexpressed human survival motor neurone isoforms, SMNΔexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution

C. Shaw, F. Muntoni, R. Roberts, 2001, FEBS letters.

Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry).

A. Al-Chalabi, C. Shaw, P. Leigh, 2007, Neuroepidemiology.

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

A. Farmer, P. McGuffin, C. Lewis, 2010, The Lancet Neurology.

Riluzole and Motor Neurone Disease

A. Al-Chalabi, C. Shaw, M. Turner, 2003, Practical Neurology.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

p38alpha stress-activated protein kinase phosphorylates neurofilaments and is associated with neurofilament pathology in amyotrophic lateral sclerosis.

C. Shaw, P. Leigh, M. Ward, 2004, Molecular and cellular neurosciences.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Timothy A. Miller, A. Al-Chalabi, C. Shaw, 2022, Nature Communications.

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

Annelot M. Dekker, A. Al-Chalabi, C. Shaw, 2020, Brain communications.

Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study

F. Turkheimer, D. Brooks, C. Shaw, 2004, Neurobiology of Disease.

The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study

A. Al-Chalabi, C. Shaw, V. Wallace, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Timothy A. Miller, R. Dobson, A. Al-Chalabi, 2022, bioRxiv.

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

Ross P. Byrne, Ashley R. Jones, A. Al-Chalabi, 2022, Frontiers in Cellular Neuroscience.

Chapter 14 Familial amyotrophic lateral sclerosis.

A. Al-Chalabi, C. Shaw, V. Arechavala-Gomeza, 2007, Handbook of clinical neurology.

The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison

N. Pearce, A. Al-Chalabi, C. Shaw, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

Ewout J. N. Groen, S. Horvath, A. Hofman, 2012, PloS one.

An estimate of amyotrophic lateral sclerosis heritability using twin data

A. Al-Chalabi, C. Shaw, P. Leigh, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

C. Shaw, K. Lau, Christopher C. J. Miller, 2011, Human molecular genetics.

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

P. Kind, C. Shaw, Colin Smith, 2018, Nature Communications.

THE FUNCTIONS OF GLYCINE ‐ RICH REGIONS IN TDP ‐ 43 , FUS AND RELATED RNA ‐ BINDING PROTEINS

J. Ule, C. Shaw, B. Rogelj, 2011 .

RNA Misprocessing in C9orf72-Linked Neurodegeneration

C. Shaw, J. Gallo, Youn-bok Lee, 2017, Front. Cell. Neurosci..

RNA Misprocessing in C9orf72-Linked Neurodegeneration

C. Shaw, J. Gallo, Youn-bok Lee, 2017, Front. Cell. Neurosci..

Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases

J. Ule, M. Kayikci, T. Hortobágyi, 2011, Nature Neuroscience.

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

C. Shaw, C. Troakes, S. Al-Sarraj, 2022, Acta neuropathologica communications.

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

S. Finkbeiner, T. Maniatis, C. Shaw, 2013, Proceedings of the National Academy of Sciences.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

Annelot M. Dekker, Ahmad Al Khleifat, N. Wray, 2021, medRxiv.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Annelot M. Dekker, N. Wray, A. McRae, 2022, Science Translational Medicine.

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

C. Shaw, W. Noble, Jacqueline C Mitchell, 2022, Aging cell.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies

Annelot M. Dekker, Ahmad Al Khleifat, Ashley R. Jones, 2020, NAR genomics and bioinformatics.

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

M. Nóbrega, T. Meitinger, M. Lathrop, 2021, Circulation research.

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.

A Al-Chalabi, J. Powell, A. Al-Chalabi, 1999, Human molecular genetics.

D90A‐SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis‐acting disease modifier in the recessive haplotype

J. Powell, A. Al-Chalabi, C. Shaw, 2002, Human mutation.

ATXN2 trinucleotide repeat length correlates with risk of ALS

Ashley R. Jones, J. Hardy, Yi-Chung Lee, 2017, Neurobiology of Aging.

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

D. Rubinsztein, C. Shaw, C. Vance, 2014, Journal of Cell Science.

Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

Robert V Farese, M. Moore, C. Shaw, 2013, PloS one.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

R. Ophoff, A. Goris, S. Sawcer, 2014, Human molecular genetics.

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

C. Shaw, S. Chandran, G. Hardingham, 2019, Glia.

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

G. Daley, S. Finkbeiner, T. Maniatis, 2012, Proceedings of the National Academy of Sciences.

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

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2008, Science.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

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

Ross P. Byrne, Ashley R. Jones, A. Al-Chalabi, 2022, NPJ genomic medicine.

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

D. Geschwind, L. Petrucelli, R. Petersen, 2008, PLoS genetics.

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

Thomas W. Mühleisen, Michelle K. Lupton, A. Singleton, 2012, Journal of Alzheimer's disease : JAD.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

Remarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome

F. Chowdhury, C. Shaw, J. Bashford, 2016, Practical Neurology.

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

Ashley R. Jones, G. Breen, A. Al-Chalabi, 2021, Brain communications.

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

C. Shaw, Xiang-Dong Fu, G. Hicks, 2018, Neuron.

TDP-43 causes neurotoxicity and cytoskeletal dysfunction in primary cortical neurons

C. Shaw, S. Guthrie, Pranetha Baskaran, 2018, PloS one.

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

C. Shaw, C. Vance, E. So, 2017, Human molecular genetics.

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

Annelot M. Dekker, Raymond D. Schellevis, N. Wray, 2017, European Journal of Human Genetics.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

ALS/FTD‐associated FUS activates GSK‐3β to disrupt the VAPB–PTPIP51 interaction and ER–mitochondria associations

C. Shaw, W. Noble, D. Hanger, 2016, EMBO reports.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

Erratum to: TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

C. Shaw, Han-Jou Chen, Emma L. Scotter, 2015, Neurotherapeutics.

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

Yong Yu, C. Shaw, R. Reed, 2015, Nucleic acids research.

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

C. Shaw, Han-Jou Chen, Emma L. Scotter, 2015, Neurotherapeutics.

A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.

C. Shaw, B. Rogelj, Youn-bok Lee, 2014, Brain : a journal of neurology.

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

Ashley R. Jones, A. Farmer, P. McGuffin, 2013, Neurobiology of Aging.

Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle

C. Shaw, 2010, Neuron.

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

F. Baas, D. Troost, A. Al-Chalabi, 2006, Brain : a journal of neurology.

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

C. Lewis, F. Baas, J. Powell, 2003, American journal of human genetics.

Progress in the pathogenesis of amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, N. Leigh, 2001, Current neurology and neuroscience reports.

Familial amyotrophic lateral sclerosis

J. Powell, C. Shaw, S. Al-Sarraj, 1997, Neurology.

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK

J. Belleroche, C. Shaw, A. Morris, 2015, Journal of the Neurological Sciences.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

T. Hortobágyi, C. Shaw, C. Troakes, 2019, Journal of the Neurological Sciences.

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

J. D. Foster, C. Shaw, S. Chandran, 2015, Nature Communications.

Association study on glutathione S‐transferase omega 1 and 2 and familial ALS

J. Powell, C. Shaw, P. Andersen, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

N. Pearce, A. Al-Chalabi, C. Shaw, 2014, The Lancet Neurology.

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain

R. Ortega, P. Sachdev, C. Shaw, 2017, Acta Neuropathologica.

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

P. Carmeliet, D. Lambrechts, C. Broeckhoven, 2003, Nature Genetics.

Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London.

A. Al-Chalabi, C. Shaw, M. Turner, 2006, Journal of neurology.

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

R. Faull, C. Shaw, T. Siddique, 2020, Proceedings of the National Academy of Sciences.

Cloning in Research and Treatment of Human Genetic Disease

C. Shaw, I. Wilmut, P. D. Sousa, 2010 .

ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

L. Petrucelli, D. Dickson, C. Shaw, 2014, Nature Communications.

The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci

Gerome Breen, Inti Pedroso, Christopher E. Shaw, 2009, PloS one.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

C. Shaw, C. Troakes, S. Al-Sarraj, 2016, Acta Neuropathologica Communications.

Birth order and the genetics of amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, P. Leigh, 2007, Journal of Neurology.

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

A. Al-Chalabi, C. Shaw, A. Shatunov, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Measurement of immune markers in the serum and cerebrospinal fluid of multiple sclerosis patients during clinical remission

C. Shaw, P. Dunbar, H. Macaulay, 2004, Journal of Neurology.

TDP‐43 is consistently co‐localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

T. Hortobágyi, C. Shaw, S. Al-Sarraj, 2009, Neuropathology : official journal of the Japanese Society of Neuropathology.

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Shankaracharya, J. Hodges, J. Fullerton, 2020, Brain : a journal of neurology.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

Phosphorylation of neurofilament heavy chain side-arms by stress activated protein kinase-1b/Jun N-terminal kinase-3.

C. Shaw, P. Leigh, C. Miller, 2000, Journal of cell science.

p38α stress-activated protein kinase phosphorylates neurofilaments and is associated with neurofilament pathology in amyotrophic lateral sclerosis

Jonathan D Cooper, C. Shaw, P. Leigh, 2004, Molecular and Cellular Neuroscience.

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

A. Al-Chalabi, C. Shaw, O. Hardiman, 2019, Cell reports.

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Ashley R. Jones, A. Al-Chalabi, C. Shaw, 2017, Neurology.

SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis

L. Goldstein, A. Al-Chalabi, C. Shaw, 2009, Journal of Neurology.

Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?

Ammar Al-Chalabi, A. Al-Chalabi, C. Shaw, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

A common haplotype within the PON1 promoter region is associated with sporadic ALS

Robert H. Brown, A. Al-Chalabi, C. Shaw, 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

Ashley R. Jones, J. D. Macklis, J. Powell, 2015, Neurobiology of Aging.

Glutamate Slows Axonal Transport of Neurofilaments in Transfected Neurons

C. Shaw, P. Leigh, A. Grierson, 2000, The Journal of cell biology.

Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding

A. Al-Chalabi, C. Shaw, P. Leigh, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy in amyotrophic lateral sclerosis (ALS): A prospective population study

L. Goldstein, S. Landau, A. Al-Chalabi, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The management of motor neurone disease

A Al-Chalabi, J Moxham, Janel O. Johnson, 2003, Journal of neurology, neurosurgery, and psychiatry.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Ashley R. Jones, M. Owen, J. Powell, 2023, Neurobiology of Disease.

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

D. Rujescu, H. Hakonarson, U. Lindenberger, 2015, Alzheimer's & Dementia.

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

A. Hofman, A. Uitterlinden, Robert H. Brown, 2014, Annals of neurology.

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

C. Shaw, P. Leigh, P. Leigh, 2007, Human molecular genetics.

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, I. N. Steen, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic

C. Shaw, C. Troakes, C. Vance, 2013, Molecular Neurodegeneration.

Frontotemporal lobar degeneration with ubiquitinated tau‐negative inclusions and additional α‐synuclein pathology but also unusual cerebellar ubiquitinated p62‐positive, TDP‐43‐negative inclusions

C. Shaw, S. Al-Sarraj, A. King, 2009, Neuropathology : official journal of the Japanese Society of Neuropathology.

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

A. Al-Chalabi, C. Shaw, O. Hardiman, 2018, Neurology.

Mutations in the Glycosylt ransferase Domain of GLT 8 D 1 Are Associated with Familial Amyotrophic Lateral Sclerosis Graphical

A. Al-Chalabi, C. Shaw, O. Hardiman, 2019 .

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

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport

C. Shaw, Y. Ono, Christopher C. J. Miller, 2008, FEBS letters.

Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale

A. Al-Chalabi, C. Shaw, Ashley Jones, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis

C. Shaw, N. Arias, A. Kaliszewska, 2021, Cerebellum.

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

T. Hortobágyi, C. Shaw, C. Troakes, 2018, Brain : a journal of neurology.

Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS

A Al-Chalabi, D J Brooks, D. Brooks, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET.

A Al-Chalabi, D J Brooks, D. Brooks, 2005, Brain : a journal of neurology.

The genetics of Parkinson’s disease and parkinsonian syndromes

C. Shaw, T. Warner, N. Bajaj, 1998, Journal of Neurology.

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

Ashley R. Jones, J. Hardy, A. Al-Chalabi, 2017, Brain : a journal of neurology.

Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability

A. Al-Chalabi, C. Shaw, M. Turner, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

T. Hortobágyi, C. Shaw, C. Troakes, 2010, Brain : a journal of neurology.

Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

L. Goldstein, A. Al-Chalabi, C. Shaw, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, L. Wijesekera, 2011, Brain : a journal of neurology.

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

C. van Broeckhoven, C. Shaw, P. Andersen, 2014, Journal of Medical Genetics.

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

A. Al-Chalabi, C. Shaw, S. Topp, 2012, Neurobiology of Aging.

Comment on “Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells”

G. Daley, S. Finkbeiner, T. Maniatis, 2013, Science Translational Medicine.

Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis

Laura H. Goldstein, Christopher E. Shaw, Ammar Al-Chalabi, 2015, Journal of Neurology.

Maturation and electrophysiological properties of human pluripotent stem cell‐derived oligodendrocytes

P. Kind, C. Shaw, S. Chandran, 2016, Stem cells.

ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth*

C. Shaw, P. Leigh, A. Hall, 2005, Journal of Biological Chemistry.

Mills’ and other isolated upper motor neurone syndromes: in vivo study with 11C-(R)-PK11195 PET

R B Banati, A Al-Chalabi, D J Brooks, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

Ashley R. Jones, G. Breen, A. Al-Chalabi, 2022, Frontiers in Cellular Neuroscience.

[11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS.

A Al-Chalabi, D J Brooks, P. Grasby, 2005, Brain : a journal of neurology.

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

S. Newhouse, A. Al-Chalabi, C. Shaw, 2012, Neurobiology of Aging.

C ]-WAY 100635 PET demonstrates marked 5-HT 1 A receptor changes in sporadic ALS

A. Hammers, D. J. Brooks, A. Al-Chalabi, 1985 .

UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome

C. Lewis, F. Baas, J. Powell, 2017 .

Susceptibility genes in sporadic ALS

A. Al-Chalabi, C. Shaw, 2006, Neurology.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Ahmad Al Khleifat, M. Nalls, M. Daly, 2019, Nature Neuroscience.

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

Sandra D'Alfonso, Adriano Chiò, Aleksey Shatunov, 2016, JAMA neurology.

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

S. Purcell, A. Al-Chalabi, C. Shaw, 2009, Neurology.

Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances

C. Shaw, M. Samuel, J. Jarosz, 2007, Neurology.

Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET

D. Brooks, A. Al-Chalabi, C. Shaw, 2007, Journal of Neurology.

Gain of Toxicity from ALS / F TD-Linked Repeat Expansions in C 9 ORF 72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Highlights

C. Heyser, L. Petrucelli, C. Shaw, 2016 .

Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing Groups

Daniel Stahl, Christopher E. Shaw, Ammar Al-Chalabi, 2009, PloS one.

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis

J. Allsop, D. Brooks, A. Al-Chalabi, 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Predicting the future of ALS: the impact of demographic change and potential new treatments on the prevalence of ALS in the United Kingdom, 2020–2116

A. Al-Chalabi, C. Shaw, P. Leigh, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

C. Shaw, C. Troakes, S. Al-Sarraj, 2015, Acta neuropathologica communications.

Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

C. Shaw, A. Nishimura, G. Cocks, 2023, Genes.

Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis

L. Goldstein, A. Al-Chalabi, C. Shaw, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’

A. Al-Chalabi, C. Shaw, P. Leigh, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

P. Kind, C. Shaw, S. Chandran, 2018, Nature Communications.

Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution

A. Al-Chalabi, C. Shaw, P. Leigh, 2009, European Radiology.

Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis

Claire L. Simpson, Robert H. Brown, J. Powell, 2003, Neurogenetics.

p35/cdk5 binds and phosphorylates beta-catenin and regulates beta-catenin/presenilin-1 interaction.

C. Shaw, P. Leigh, C. Miller, 2001, The European journal of neuroscience.

CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Aleksey, C. Lewis, S. Newhouse, 2018 .

Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis

Adriano Chiò, Philip Van Damme, Aleksey Shatunov, 2016 .

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

J. Belleroche, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS

A. Al-Chalabi, C. Shaw, J. Glass, 2008, Neurology.

Neuromuscular disease: new insights and avenues for therapy

C. Shaw, Emma L. Scotter, 2013, The Lancet Neurology.

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

A. Al-Chalabi, C. Shaw, M. Turner, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism

C. Shaw, S. Topp, A. Nishimura, 2016 .

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

L. Petrucelli, C. Shaw, C. Troakes, 2020, Human molecular genetics.

p35/cdk5 binds and phosphorylates β‐catenin and regulates β‐catenin/presenilin‐1 interaction

C. Shaw, P. Leigh, K. Lau, 2001 .

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, P. Andersen, 2013, Neurobiology of Aging.

Androgen induced cell death in SHSY5Y neuroblastoma cells expressing wild-type and spinal bulbar muscular atrophy mutant androgen receptors.

C. Shaw, C. Miller, A. Grierson, 2001, Biochimica et biophysica acta.

No evidence for a large difference in ALS frequency in populations of African and European origin: A population based study in inner city London

L. Goldstein, A. Al-Chalabi, C. Shaw, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Giant cell arteritis of the cervical radicular vessels presenting with diaphragmatic weakness

C. Shaw, P. Leigh, 2000, Journal of neurology, neurosurgery, and psychiatry.

Interaction between PON1 and population density in amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, F. Diekstra, 2009, Neuroreport.

Correction for Wu et al., ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

C. Shaw, T. Siddique, Alexandra, 2021, Proceedings of the National Academy of Sciences of the United States of America.

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

C. Shaw, Xiang-Dong Fu, G. Hicks, 2020, Neuron.

Common variants at ABCA 7 , MS 4 A 6 A / MS 4 A 4 E , EPHA 1 , CD 33 and CD 2 AP are associated with Alzheimer ’ s disease

Nick C Fox, John X. Morris, Thomas W. Mühleisen, 2011 .

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts

A. Al-Chalabi, C. Shaw, P. Andersen, 2023, medRxiv.

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

Gene W. Yeo, C. Shaw, G. Tucker-Kellogg, 2019, eLife.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

Robert H. Brown, D. A. Bosco, C. Shaw, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

C. Shaw, Han-Jou Chen, Emma L. Scotter, 2015, Neurotherapeutics.

Homozygosity analysis in amyotrophic lateral sclerosis

M. Nalls, T. Peuralinna, J. Hardy, 2013, European Journal of Human Genetics.

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

A. Al-Chalabi, C. Shaw, O. Hardiman, 2018, Neurology.

Exploring the Feasibility of Using Biotelemetry to Monitor Patients with Amyotrophic Lateral Sclerosis During Clinical Trials (Preprint)

A. Al-Chalabi, C. Shaw, K. Talbot, 2019 .

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

M. Mayr, C. Shaw, C. Troakes, 2015, Neuroscience.

Proteome-based plasma biomarkers for Alzheimer's disease.

S. Lovestone, J. Powell, C. Shaw, 2006, Brain : a journal of neurology.