Christopher Shaw
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Professor of Neurology and Neurogenetics
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Christopher Shaw 's Degrees
- PhD Neuroscience Stanford University
- Doctorate Medicine Harvard University
Why Is Christopher Shaw Influential?
(Suggest an Edit or Addition)According to Wikipedia, Christopher Edward Dennistoun Shaw MBChB, MD, FRACP, FRCP , FMedSci, FANA is Professor of Neurology and Neurogenetics at the Institute of Psychiatry, Psychology and Neuroscience, King's College London. He is also Head of the Department of Basic and Clinical Neuroscience, Director of the Maurice Wohl Clinical Neuroscience Institute at King's College London and an Honorary Consultant Neurologist and Neurogeneticist at King's College Hospital. His major research interest is in the genetic, molecular and cellular basis of motor neuron diseases such as amyotrophic lateral sclerosis .
Christopher Shaw 's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis (2008) (2389)
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 (2009) (2360)
- Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
- Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease (2009) (1644)
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, and shows evidence for additional susceptibility genes (2009) (1441)
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2013) (1388)
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS (2013) (1085)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death (2003) (881)
- Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. (2011) (848)
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways (2015) (816)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study (2004) (648)
- Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2010) (587)
- Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations (2014) (515)
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 (2004) (458)
- Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis (2008) (433)
- 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 (2011) (432)
- Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
- Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic (2013) (420)
- ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43 (2014) (416)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs (2016) (396)
- Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. (2007) (390)
- VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis (2011) (387)
- Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. (2006) (384)
- Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. (1999) (370)
- Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis (2009) (358)
- Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models (2014) (354)
- ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 (2013) (354)
- Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability (2012) (326)
- Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy (2013) (302)
- An estimate of amyotrophic lateral sclerosis heritability using twin data (2010) (290)
- Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model (2018) (276)
- Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration (2008) (274)
- Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study (2014) (266)
- A proposed staging system for amyotrophic lateral sclerosis (2012) (263)
- Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain (2012) (259)
- Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS (2013) (253)
- Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase (2010) (248)
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
- FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. (2012) (241)
- Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species (2014) (237)
- Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion (2012) (236)
- Natural history and clinical features of the flail arm and flail leg ALS variants (2009) (229)
- Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability (2015) (227)
- TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets (2015) (214)
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder (2012) (213)
- Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. (2002) (211)
- Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments (2003) (200)
- Analysis of alternative splicing associated with aging and neurodegeneration in the human brain. (2011) (199)
- Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis (2009) (197)
- ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules (2013) (195)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- Glutamate Slows Axonal Transport of Neurofilaments in Transfected Neurons (2000) (182)
- ALS/FTD‐associated FUS activates GSK‐3β to disrupt the VAPB–PTPIP51 interaction and ER–mitochondria associations (2016) (179)
- Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis (2017) (167)
- Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration. (2010) (166)
- CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia (2016) (160)
- ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS (2018) (154)
- The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease (2015) (151)
- Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis? (2012) (148)
- Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. (2006) (147)
- Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET. (2005) (146)
- Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis (1998) (141)
- Prolonged survival in motor neuron disease: a descriptive study of the King’s database 1990–2002 (2003) (135)
- Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases (2011) (134)
- The management of motor neurone disease (2003) (131)
- ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS (2018) (129)
- C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity (2018) (128)
- Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria (2012) (127)
- 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 (2012) (126)
- Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. (2010) (125)
- 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 (2009) (125)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
- Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations (2013) (121)
- Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes (2013) (115)
- The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis (2016) (114)
- A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories (2014) (111)
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
- D90A‐SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis‐acting disease modifier in the recessive haplotype (2002) (103)
- Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? (2006) (101)
- Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 (2013) (101)
- [11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS. (2005) (100)
- p38α stress-activated protein kinase phosphorylates neurofilaments and is associated with neurofilament pathology in amyotrophic lateral sclerosis (2004) (99)
- Association of apolipoprotein E ∈4 allele with bulbar-onset motor neuron disease (1996) (98)
- Phosphorylation of neurofilament heavy chain side-arms by stress activated protein kinase-1b/Jun N-terminal kinase-3. (2000) (97)
- Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale (2014) (97)
- Novel mutations support a role for Profilin 1 in the pathogenesis of ALS (2015) (97)
- Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis (2017) (97)
- Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. (2003) (95)
- ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth* (2005) (93)
- Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry). (2007) (91)
- p35/cdk5 binds and phosphorylates beta-catenin and regulates beta-catenin/presenilin-1 interaction. (2001) (90)
- 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 (2015) (87)
- SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis (2009) (84)
- Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy (1996) (83)
- Amyotrophic Lateral Sclerosis in South-East England: A Population-Based Study (2007) (83)
- Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology (2010) (82)
- Amyotrophic lateral sclerosis in an urban setting (2006) (82)
- Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders (2011) (81)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
- U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish (2015) (79)
- Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis (2001) (79)
- ATXN2 trinucleotide repeat length correlates with risk of ALS (2017) (77)
- A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS (2009) (77)
- Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS (2005) (76)
- Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS (2015) (75)
- Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD (2013) (75)
- Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant (2013) (72)
- Familial amyotrophic lateral sclerosis (1997) (70)
- Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain (2017) (69)
- Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials (2017) (69)
- Progress in the pathogenesis of amyotrophic lateral sclerosis (2001) (67)
- A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK (2017) (67)
- Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing Groups (2009) (65)
- Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2009) (64)
- Maturation and electrophysiological properties of human pluripotent stem cell‐derived oligodendrocytes (2016) (63)
- Identification of a Novel, Membrane-Associated Neuronal Kinase, Cyclin-Dependent Kinase 5/p35-Regulated Kinase (2003) (63)
- A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration (2018) (63)
- A clinical tool for predicting survival in ALS (2016) (63)
- The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. (2012) (61)
- pNfH is a promising biomarker for ALS (2013) (61)
- Use of human intravenous immunoglobulin in lower motor neuron syndromes (1999) (61)
- ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function (2018) (60)
- 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 (2006) (60)
- Expression of the Fe65 adapter protein in adult and developing mouse brain (2002) (60)
- Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability (2011) (60)
- Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice (2017) (59)
- C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity (2017) (59)
- Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology (2019) (59)
- C9orf72 intermediate expansions of 24–30 repeats are associated with ALS (2019) (58)
- New VAPB deletion variant and exclusion of VAPB mutations in familial ALS (2008) (58)
- Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. (2016) (58)
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis (2014) (56)
- The risk to relatives of patients with sporadic amyotrophic lateral sclerosis (2011) (56)
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome (2020) (55)
- Mills’ and other isolated upper motor neurone syndromes: in vivo study with 11C-(R)-PK11195 PET (2005) (54)
- The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study (2014) (54)
- Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS (2012) (52)
- CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. (2020) (52)
- The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci (2009) (52)
- Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis (2019) (52)
- Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis (2007) (51)
- RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy (2019) (49)
- p38alpha stress-activated protein kinase phosphorylates neurofilaments and is associated with neurofilament pathology in amyotrophic lateral sclerosis. (2004) (49)
- Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET (2007) (48)
- Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia (2014) (47)
- A common haplotype within the PON1 promoter region is associated with sporadic ALS (2008) (47)
- Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis. (2013) (46)
- Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis (2019) (45)
- Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD (2016) (43)
- TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations (2015) (43)
- Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. (1996) (42)
- Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis (2015) (42)
- Large-scale pathways-based association study in amyotrophic lateral sclerosis. (2007) (41)
- Neurofilament subunit (NFL) head domain phosphorylation regulates axonal transport of neurofilaments. (2009) (41)
- Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport (2008) (41)
- Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis (2003) (41)
- Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease (2011) (41)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- Geographical Clustering of Amyotrophic Lateral Sclerosis in South-East England: A Population Study (2008) (40)
- Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy in amyotrophic lateral sclerosis (ALS): A prospective population study (2014) (39)
- Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (2017) (39)
- Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (2017) (39)
- Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone disease. (2010) (38)
- ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function (2020) (36)
- Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells (2014) (36)
- An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS (2014) (36)
- The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison (2017) (35)
- Erratum to: TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets (2015) (34)
- C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis (2016) (34)
- RNA Misprocessing in C9orf72-Linked Neurodegeneration (2017) (33)
- C ]-WAY 100635 PET demonstrates marked 5-HT 1 A receptor changes in sporadic ALS (1985) (33)
- Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies (2019) (31)
- Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import (2015) (30)
- Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias (2018) (29)
- Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo☆ (2014) (29)
- Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis (2015) (29)
- TDP-43 causes neurotoxicity and cytoskeletal dysfunction in primary cortical neurons (2018) (28)
- ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization (2020) (28)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs sporadic ALS (2007) (27)
- Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’ (2019) (26)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
- Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat (2013) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. (2014) (26)
- Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis (2016) (26)
- C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis (2014) (26)
- H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis (2013) (25)
- Amyotrophic Lateral Sclerosis/Motor Neuron Disease (2006) (25)
- Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution (2009) (25)
- Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle (2010) (24)
- Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis (2003) (24)
- ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation (2015) (23)
- Phenotypic differences between African and white patients with motor neuron disease: a case-control study (2000) (23)
- The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients (2015) (23)
- Frontotemporal lobar degeneration with ubiquitinated tau‐negative inclusions and additional α‐synuclein pathology but also unusual cerebellar ubiquitinated p62‐positive, TDP‐43‐negative inclusions (2009) (22)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? (2018) (21)
- Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances (2007) (21)
- A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
- Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort (2019) (21)
- Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients (2012) (21)
- Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding (2012) (21)
- Axonal transport of TDP-43 mRNA granules in neurons is impaired by ALS-causing mutations (2014) (20)
- Remarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome (2016) (20)
- The association between ALS and population density: A population based study (2010) (20)
- Association study on glutathione S‐transferase omega 1 and 2 and familial ALS (2008) (20)
- Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population (2015) (19)
- Measurement of immune markers in the serum and cerebrospinal fluid of multiple sclerosis patients during clinical remission (2004) (19)
- p35/cdk5 binds and phosphorylates β‐catenin and regulates β‐catenin/presenilin‐1 interaction (2001) (19)
- Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes (2015) (18)
- Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS (2022) (18)
- Evidence of an environmental effect on survival in ALS (2014) (18)
- Interaction between PON1 and population density in amyotrophic lateral sclerosis (2009) (17)
- 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)) (2017) (17)
- THE FUNCTIONS OF GLYCINE ‐ RICH REGIONS IN TDP ‐ 43 , FUS AND RELATED RNA ‐ BINDING PROTEINS (2011) (17)
- No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS (2004) (17)
- No evidence for a large difference in ALS frequency in populations of African and European origin: A population based study in inner city London (2012) (16)
- Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients (2012) (16)
- Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia (2022) (16)
- Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis (2022) (16)
- 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 (2019) (15)
- Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study (2019) (15)
- Telomere length is greater in ALS than in controls: a whole genome sequencing study (2019) (15)
- Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene (2014) (15)
- Gigaxonin is associated with the Golgi and dimerises via its BTB domain (2004) (15)
- Androgen induced cell death in SHSY5Y neuroblastoma cells expressing wild-type and spinal bulbar muscular atrophy mutant androgen receptors. (2001) (14)
- CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis (2008) (13)
- Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia (2019) (13)
- Hereditary pure lower motor neuron disease with adult onset and rapid progression (2001) (13)
- Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord (2022) (13)
- C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue (2017) (13)
- 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 (2019) (13)
- Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic (2013) (12)
- Exploring the Feasibility of Using Biotelemetry to Monitor Patients with Amyotrophic Lateral Sclerosis During Clinical Trials (Preprint) (2019) (12)
- Palliative care in amyotrophic lateral sclerosis: From diagnosis to bereavement. (2006) (12)
- VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK (2015) (12)
- Birth order and the genetics of amyotrophic lateral sclerosis (2007) (11)
- Society for Neuroscience Abstracts (2001) (11)
- 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 (2016) (11)
- Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein. (2004) (10)
- SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed (2021) (10)
- 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 (2020) (10)
- Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised α-fetoprotein (2004) (9)
- Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis (2012) (9)
- The genetics of Parkinson’s disease and parkinsonian syndromes (1998) (9)
- Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease (2016) (8)
- Cytoplasmic TDP-43 is involved in cell fate during stress recovery (2021) (8)
- Palliative care in motor neurone disease (2000) (7)
- Susceptibility genes in sporadic ALS (2006) (7)
- C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity (2018) (7)
- Cuznsod‐associated amyotrophic lateral sclerosis (1997) (7)
- The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis (2020) (6)
- Comment on “Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells” (2013) (6)
- Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis (2016) (6)
- Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD (2021) (6)
- TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets (2015) (6)
- Giant cell arteritis of the cervical radicular vessels presenting with diaphragmatic weakness (2000) (5)
- Compound heterozygosity and variable penetrance in SOD1 amyotrophic lateral sclerosis pedigrees (2001) (5)
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2021) (5)
- Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways (2021) (5)
- Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis (2015) (4)
- Amyotrophic lateral sclerosis mutant VAPB transgenic mice develop TDP-43 pathology (4)
- ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells (2021) (4)
- ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS (2020) (4)
- Riluzole and Motor Neurone Disease (2003) (3)
- Prediction of personalised prognosis in patients with amyotrophic lateral sclerosis: development and validation of a prediction model (2018) (3)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
- C9ORF72 and UBQLN2 are genetic causes of ALS in New Zealand (2016) (3)
- Chapter 14 Familial amyotrophic lateral sclerosis. (2007) (3)
- C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity. (2020) (3)
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (2022) (3)
- A novel optineurin truncation mutation identified in a consanguineous Palestinian family with Amyotrophic Lateral Sclerosis confirms loss of function as a disease mechanism (2016) (3)
- Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation (2019) (2)
- Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2011) (2)
- A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay (2021) (2)
- Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis (2021) (2)
- Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression (2022) (2)
- Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. (2021) (2)
- Neuromuscular disease: new insights and avenues for therapy (2013) (2)
- Expression of the Fe65 adaptor protein in adult and developing mouse brain (2002) (2)
- CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis (2018) (2)
- Huntington's disease and ALS - the ethical challenges for families and professionals facing genetic disease (2015) (1)
- Reply: The role of DNAJB2 in amyotrophic lateral sclerosis (2016) (1)
- Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11 (2021) (1)
- Erratum: Residual association of chromosome 9P21 SNPS with ALS after exclusion of C9ORF72 mutated cases (Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2012) 13 (18)) (2013) (1)
- The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases (2023) (1)
- Correction for Wu et al., ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function (2021) (1)
- Mutant VAPB transgenic mice linked to amyotrophic lateral sclerosis type-8 develop TDP-43 pathology (2010) (1)
- PATH45 Cytoskeletal and inflammatory protein biomarkers for amyotrophic lateral sclerosis (2010) (1)
- Expanded G4C2 repeats linked to C9ORF72ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic (2013) (1)
- Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS (2015) (1)
- Using GFP-tagged neurofilament middle chain to investigate slow transport in cultured cortical neurons (2000) (1)
- Motor neurone disease and spinal muscular atrophies (2003) (1)
- Unpicking neurodegeneration in a dish with human pluripotent stem cells (2013) (1)
- Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data (2022) (1)
- In vivo study of cerebral microglial activation in MND using [C-11]-PK11195 PET (2004) (0)
- Trimodal pattern of C9ORF72 GGGGCC normal allele repeat number in sporadic amyotrophic lateral sclerosis and lack of association with disease risk and age at onset (2013) (0)
- Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration (2022) (0)
- Both loss and gain of TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration in Drosophilia (2012) (0)
- LETTER TO THE EDITOR Reply: The role of DNAJB2 in amyotrophic lateral sclerosis (2016) (0)
- [C-11]-WAY100635 PET: A surrogate marker for MND? (2003) (0)
- Analysis of TDP-43 and its binding partners in neurodegenerative diseases (2013) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis (2021) (0)
- Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration (2022) (0)
- The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS) (2010) (0)
- Cloning in Research and Treatment of Human Genetic Disease (2010) (0)
- UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome (2017) (0)
- Edinburgh Explorer Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells (2018) (0)
- Mutations in RNA processing protein FUS result in neurodegeneration with cytoplasmic inclusion and cause familial amyotrophic lateral sclerosis (2009) (0)
- Multi-step analysis shows that late onset ALS with slow progression may represent a distinct aetiological subgroup (2016) (0)
- 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS (2019) (0)
- Amyotrophic lateral sclerosis in an urban setting A population based (2007) (0)
- A Novel Locus for Motor Neurone Disease on Chromosome 16q12-13 (2003) (0)
- Reply : The role of DNAJB 2 in amyotrophic lateral sclerosis (2016) (0)
- ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation (2015) (0)
- Heterogeneous nuclear ribonucleoprotein E2 (HNRNPE2) is found as a component of TDP-43 aggregates specifically in the A and C pathological subtypes of frontotemporal lobar degeneration (2019) (0)
- An investigation of the roles of TDP43 and C9orf72 in regulation of the neuronal cytoskeleton in amyotrophic lateral sclerosis (2015) (0)
- 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 (2015) (0)
- PATH46 Familial mutations in the RNA binding gene FUS result in cellular mislocalisation of the protein (2010) (0)
- Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosis (2022) (0)
- Phenotypic di V erences between African and white patients with motor neuron disease: a case-control study (2000) (0)
- Mutations in the Glycosylt ransferase Domain of GLT 8 D 1 Are Associated with Familial Amyotrophic Lateral Sclerosis Graphical (2019) (0)
- Running title: Genome-wide association study in long QT syndrome (2020) (0)
- Functional maturity of motor neurons derived from control and ALS patient iPSCs is affected by human iPSC-derived astrocytes (2017) (0)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- University of Groningen Mapping of Gene Expression Reveals CYP 27 A 1 as a Susceptibility Gene for Sporadic (2012) (0)
- The role of SOD1 mutations in young-adult motor neuron isolated ptosis disease (2002) (0)
- Amyotrophic lateral sclerosis in South-East England: a population based study [South-East England Amyotrophic Lateral Sclerosis (SEALS) Registry]. (2008) (0)
- Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
- Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival (2022) (0)
- RNA Misprocessing in C 9 orf 72-Linked Neurodegeneration (2017) (0)
- Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2017) (0)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- The D90A SOD1 mutation in amyotrophic lateral sclerosis: Why are the Scandinavians protected? (2001) (0)
- Amyotrophic Lateral Sclerosis and Other TDP-43 Proteinopathies (2018) (0)
- FTD-ALS AND MUTATIONS IN C9ORF72 (2017) (0)
- Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD (2016) (0)
- Analysis of ALS6 in frontotemporal lobar degeneration (2009) (0)
- A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers. (2014) (0)
- Neurogenetics: Amyotrophic lateral sclerosis and other disorders of the lower motor neuron (2012) (0)
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