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Authors whose works are in public domain in at least one jurisdiction

List of works by Christopher Shaw

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

scientific article published on October 2008

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

scientific article

A proposed staging system for amyotrophic lateral sclerosis

scientific article published on 23 January 2012

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

scientific article published in November 2014

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

scientific article published on 7 March 2013

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

scientific article published on 9 October 2015

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

scientific article

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

scientific article published on 14 July 2016

ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth

scientific article

ATXN2 trinucleotide repeat length correlates with risk of ALS.

scientific article

Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS

scientific article

Administration of aluminium to neonatal mice in vaccine-relevant amounts is associated with adverse long term neurological outcomes

scientific article published on July 19, 2013

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

scientific article published in April 2007

Aluminum Vaccine Adjuvants: Are they Safe?

scientific article published on January 1, 2011

Aluminum adjuvant linked to Gulf War illness induces motor neuron death in mice

scientific article

Aluminum and the human diet revisited

scientific article

Aluminum as a CNS and Immune System Toxin Across the Life Span

scientific article published on 01 January 2018

Aluminum hydroxide injections lead to motor deficits and motor neuron degeneration

scientific article

Aluminum in the central nervous system (CNS): toxicity in humans and animals, vaccine adjuvants, and autoimmunity

scientific article published on July 1, 2013

Aluminum-induced entropy in biological systems: implications for neurological disease

scientific article

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

scientific article published on 24 February 2010

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

scientific article published on July 2007

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.

scientific article

An estimate of amyotrophic lateral sclerosis heritability using twin data.

scientific article

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

scientific article

Analysis of TDP-43 and its binding partners in neurodegenerative diseases.

scientific article

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain.

scientific article

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

scientific article

Animal models of amyotrophic lateral sclerosis: A comparison of model validity

scientific article published on 01 December 2018

Are there negative CNS impacts of aluminum adjuvants used in vaccines and immunotherapy?

scientific article

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

scientific article published on 31 May 2016

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

scientific article published on 18 January 2013

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

scientific article

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

scientific article published on 01 September 2019

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models.

scientific article

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

article

Behavioral abnormalities in female mice following administration of aluminum adjuvants and the human papillomavirus (HPV) vaccine Gardasil

scientific article

Behavioral abnormalities in young female mice following administration of aluminum adjuvants and the human papillomavirus (HPV) vaccine Gardasil

scientific article

Behavioral and neurological correlates of ALS-parkinsonism dementia complex in adult mice fed washed cycad flour

scientific article published in January 2002

Birth order and the genetics of amyotrophic lateral sclerosis

article

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

scientific article

Building user participation to reshape services for people affected by motor neurone disease

scientific article published in August 2002

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

scientific article published on 5 July 2016

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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

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

scientific article published on 12 February 2008

Chapter 14 Familial amyotrophic lateral sclerosis

scientific article published on 01 January 2007

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

scientific article published on 27 February 2011

Cholesteryl Glucoside Stimulates Activation of Protein Kinase B/Akt in the Motor Neuron-Derived NSC34 Cell Line

scientific article published on January 1, 2008

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

Combination of phytosterols and omega-3 fatty acids: a potential strategy to promote cardiovascular health

scientific article published in January 2004

Comment on "Drug screening for ALS using patient-specific induced pluripotent stem cells".

scientific article published on June 2013

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 ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Corrigendum to 'SPiQE: An automated analytical tool for detecting and characterising fasciculations in amyotrophic lateral sclerosis' [Clin. Neurophysiol. 130 (2019) 1083-1090]

scientific article published on 06 November 2019

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

scientific article published on 9 February 2007

Cycas micronesica (Cycadales) plants devoid of endophytic cyanobacteria increase in beta-methylamino-L-alanine

scientific article

Decrease in Glial Glutamate Transporter Variants and Excitatory Amino Acid Receptor Down-Regulation in a Murine Model of ALS-PDC

scientific article published on January 1, 2003

Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport

scientific article published on 2 June 2008

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

scientific article

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

scientific article

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.

scientific article published on 25 June 2015

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

scientific article

Distribution of free and glycosylated sterols within Cycas micronesica plants

scientific article

Do aluminum vaccine adjuvants contribute to the rising prevalence of autism?

scientific article published on August 23, 2011

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.

scientific article

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

scientific article

Early postnatal injections of whole vaccines compared to placebo controls: Differential behavioural outcomes in mice

scientific article published on 27 July 2020

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

scientific article

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

scientific article

Environmental neurotoxin-induced progressive model of parkinsonism in rats

scientific article

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

scientific article published on April 2015

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

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

scientific article published on 10 April 2014

Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis

scientific article published on 10 May 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

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

scientific article published on 22 October 2014

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

scientific article

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

scientific article published on 22 February 2006

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

scientific article published on 28 August 2007

Free and glycosylated sterol bioaccumulation in developing Cycas micronesica seeds

scientific article

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

scientific article published on 18 August 2008

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

scientific article published on 19 April 2016

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

scientific article published on 18 December 2014

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

scientific article (publication date: 15 November 2010)

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

scientific article published on 28 February 2019

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

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

scientific article published on 28 April 2013

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

scientific article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population study

scientific article published on 27 November 2008

HPV vaccines and cancer prevention, science versus activism

scientific article published on February 2013

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

Highly delayed systemic translocation of aluminum-based adjuvant in CD1 mice following intramuscular injections

scientific article published on 22 July 2015

Homozygosity analysis in amyotrophic lateral sclerosis

scientific article published on 24 April 2013

Human Papillomavirus (HPV) Vaccines as an Option for Preventing Cervical Malignancies: (How) Effective and Safe?

scientific article published on January 1, 2013

Human papillomavirus (HPV) vaccine policy and evidence-based medicine: are they at odds?

scientific article

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

scientific article published on 22 July 2015

In Vitro Effects of Cholesterol β-d-Glucoside, Cholesterol and Cycad Phytosterol Glucosides on Respiration and Reactive Oxygen Species Generation in Brain Mitochondria

scientific article published on October 12, 2010

Interaction between PON1 and population density in amyotrophic lateral sclerosis

scientific article published on January 2009

Investigating microglia during motor neuron degeneration using a zebrafish model

scientific article published on 20 February 2020

Is exposure to aluminium adjuvants associated with social impairments in mice? A pilot study

scientific article published on 21 November 2017

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

scientific article

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

scientific article published on 9 October 2015

Lack of behavioral and neuropathological effects of dietary beta-methylamino-L-alanine (BMAA) in mice

scientific article published on 30 June 2006

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

scientific article

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

scientific article published on 22 September 2009

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

scientific article published on 10 January 2013

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

scientific article

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

scientific article

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

scientific article published on 13 January 2016

Mechanisms of aluminum adjuvant toxicity and autoimmunity in pediatric populations

scientific article published on February 1, 2012

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

scientific article published on 15 April 2008

Modeling Environmentally-Induced Motor Neuron Degeneration in Zebrafish

scientific article

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

scientific article published on 24 December 2013

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

scientific article published on 04 February 2009

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

scientific article published on 26 March 2012

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

article

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

scientific article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

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

scientific article

Necroptosis in amyotrophic lateral sclerosis and other neurological disorders

scientific article published on 27 November 2016

Neurodegenerative diseases: neurotoxins as sufficient etiologic agents?

scientific article published on 6 November 2007

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

scientific article published on 14 January 2009

Neuromuscular disease: new insights and avenues for therapy.

scientific article published on January 2013

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

scientific article published on 5 March 2008

New animal models of progressive neurodegeneration: tools for identifying targets in predictive diagnostics and presymptomatic treatment

scientific article published on June 9, 2010

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

No autoimmune safety signal after vaccination with quadrivalent HPV vaccine Gardasil?

scientific article published on May 24, 2012

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

scientific article published on January 2012

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

scientific article

Non-linear dose-response of aluminium hydroxide adjuvant particles: Selective low dose neurotoxicity

scientific article published on 28 November 2016

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

scientific article published on 4 April 2017

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

scientific article

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

scientific article

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

scientific article published on 13 May 2010

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

scientific article published on 01 March 2011

P12 Predictors of mood in amyotrophic lateral sclerosis: physical and psychological factors

PARADOXICAL RESPONSES TO NEUROTOXIC STERYL GLYCOSIDES: INSIGHTS FROM A CELLULAR MODEL OF ALSPDC

scientific article published on January 15, 2009

Panax ginseng is neuroprotective in a novel progressive model of Parkinson's disease

scientific article

Parkinson-dementia complex and development of a new stable isotope dilution assay for BMAA detection in tissue

scientific article

Phenotypic Characteristics as Predictors of Phytosterols in Mature Cycas micronesica Seeds.

scientific article

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

scientific article

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

scientific article

Progranulin is expressed within motor neurons and promotes neuronal cell survival

scientific article

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

scientific journal article

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

scientific article published on 6 March 2014

RETRACTED: Letter to the editor

retracted paper

RETRACTED: Letter to the editor "[Toxicology (2017) 159 -159]

retracted scientific article published on 01 April 2018

RETRACTED: Subcutaneous injections of aluminum at vaccine adjuvant levels activate innate immune genes in mouse brain that are homologous with biomarkers of autism

retracted scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

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

scientific article published on September 2016

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

scientific article published on 01 December 1998

Reduction in hSOD1 copy number significantly impacts ALS phenotype presentation in G37R (line 29) mice: implications for the assessment of putative therapeutic agents

scientific article

Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis

scientific article published on 17 June 2015

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

scientific article published on 07 March 2019

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

scientific article

Removal notice to "Subcutaneous injections of aluminum at vaccine adjuvant levels activate innate immune genes in mouse brain that are homologous with biomarkers of autism" [Journal of Inorganic Biochemistry 177 (2017) 39-54].

scientific article published in December 2017

Reply

Reply

Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.

scientific article published on 21 June 2016

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

scientific article published on 12 April 2013

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

scientific article published on 25 February 2016

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

retracted article

Retraction Notice to "Letter to the editor"

item in Toxicology (1 December 2018)

SPiQE: An automated analytical tool for detecting and characterising fasciculations in amyotrophic lateral sclerosis

scientific article published on 19 April 2019

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

scientific article published on 11 August 2012

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

scientific article

Skeletal trauma reflects hunting behaviour in extinct sabre-tooth cats and dire wolves

scientific article published in 2017

Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

scientific article published on 19 February 2015

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

scientific article

Susceptibility genes in sporadic ALS: separating the wheat from the chaff by international collaboration

scientific article published in September 2006

Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease

scientific article published on 04 February 2008

Synergistic versus antagonistic actions of glutamate and glutathione: the role of excitotoxicity and oxidative stress in neuronal disease.

scientific article

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

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

scientific article published on 11 January 2014

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

scientific article

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

scientific article

The Progressive BSSG Rat Model of Parkinson's: Recapitulating Multiple Key Features of the Human Disease

scientific article (publication date: 2015)

The association between ALS and population density: A population based study

scientific article

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

scientific article

The evolving role of surface electromyography in amyotrophic lateral sclerosis: A systematic review

scientific article published on 27 December 2019

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

scientific article published on March 2016

The management of motor neurone disease.

scientific article published on December 2003

The primary locus of motor neuron death in an ALS-PDC mouse model

scientific article

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

scientific article published on 20 September 2011

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci

scientific article

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

scientific article

The sex ratio in amyotrophic lateral sclerosis: A population based study

scientific article published in October 2010

Too Fast or Not Too Fast: The FDA's Approval of Merck's HPV Vaccine Gardasil

scientific article published on January 1, 2012

Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS i

scientific article published in August 2013

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

scientific article

Use of human intravenous immunoglobulin in lower motor neuron syndromes

scientific article

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

scientific article

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

scientific article published on 17 January 2015

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

scientific article published in August 2003

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

scientific article

Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis

Who Profits From Uncritical Acceptance of Biased Estimates of Vaccine Efficacy and Safety?

scientific article published on July 19, 2012

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

scientific article published on 28 August 2012

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

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

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

scientific article published on 2 February 2005

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

scientific article published on 19 November 2011

“One-size fits all”?

scientific article published on November 23, 2011