Ammar Al-Chalabi
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Why Is Ammar Al-Chalabi Influential?
(Suggest an Edit or Addition)According to Wikipedia, Ammar Al-Chalabi is Professor of Neurology and Complex Disease Genetics at the Maurice Wohl Clinical Neuroscience Institute at King's College London, where he is also head of the Department of Basic and Clinical Neuroscience and Director of the King's Motor Neuron Disease Research Centre. In 2020, he received the Forbes Norris Award from the International Alliance Of Als/Mnd Associations and was a co-winner of the Healey Center International Prize for Innovation in ALS. His other awards include the Sheila Essey Award from the American Academy of Neurology and the Charcot Young Investigator Award from the Motor Neurone Disease Association. In 2021 he was appointed Senior Investigator at the National Institute for Health Research .
Ammar Al-Chalabi'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)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- 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)
- 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)
- Clinical genetics of amyotrophic lateral sclerosis: what do we really know? (2011) (648)
- The epidemiology of ALS: a conspiracy of genes, environment and time (2013) (631)
- Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2010) (587)
- Amyotrophic Lateral Sclerosis. (2017) (455)
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study (2012) (441)
- 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)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. (2006) (384)
- The genetics and neuropathology of amyotrophic lateral sclerosis (2012) (374)
- Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. (1999) (370)
- A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia (2006) (359)
- Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis (2009) (358)
- Amyotrophic lateral sclerosis (2017) (341)
- 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)
- EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans (2012) (273)
- 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)
- Amyotrophic lateral sclerosis: moving towards a new classification system (2016) (262)
- ALSoD: A user‐friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics (2012) (256)
- Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis. (1997) (253)
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
- Natural history and clinical features of the flail arm and flail leg ALS variants (2009) (229)
- Detection of long repeat expansions from PCR-free whole-genome sequence data (2016) (223)
- Gene discovery in amyotrophic lateral sclerosis: implications for clinical management (2017) (220)
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder (2012) (213)
- Early symptom progression rate is related to ALS outcome: a prospective population-based study. (2002) (212)
- Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis (2009) (197)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- Neurofilaments and neurological disease. (2003) (177)
- Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil. (2000) (176)
- Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. (1998) (175)
- A proposal for new diagnostic criteria for ALS (2020) (171)
- Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis (2017) (167)
- Mutations in all five exons of SOD‐1 may cause ALS (1998) (157)
- The sex ratio in amyotrophic lateral sclerosis: A population based study (2010) (152)
- Erratum: Amyotrophic lateral sclerosis (Nature reviews. Disease primers (2017) 3 (17071)) (2017) (151)
- 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)
- Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study (2018) (145)
- Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis (1998) (141)
- Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation (1997) (140)
- The chromosome 9 ALS and FTD locus is probably derived from a single founder (2012) (139)
- Quantifying Disease Progression in Amyotrophic Lateral Sclerosis (2014) (136)
- Prolonged survival in motor neuron disease: a descriptive study of the King’s database 1990–2002 (2003) (135)
- ALSOD: The Amyotrophic Lateral Sclerosis Online Database (2008) (135)
- Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study (2016) (135)
- The management of motor neurone disease (2003) (131)
- A multicentre validation study of the diagnostic value of plasma neurofilament light (2021) (130)
- ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS (2018) (129)
- 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)
- Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial (2013) (125)
- Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation (2020) (125)
- Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis (2010) (122)
- Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy (2009) (122)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (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)
- Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives (2009) (110)
- Quantification of reverse transcriptase in ALS and elimination of a novel retroviral candidate (2008) (109)
- 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)
- A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population (2005) (104)
- Improving clinical trial outcomes in amyotrophic lateral sclerosis (2020) (103)
- Genotyping Pooled DNA on Microarrays: A Systematic Genome Screen of Thousands of SNPs in Large Samples to Detect QTLs for Complex Traits (2004) (103)
- 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)
- Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease (2011) (102)
- 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)
- Prognostic modelling of therapeutic interventions in amyotrophic lateral sclerosis (2002) (100)
- The changing picture of amyotrophic lateral sclerosis: lessons from European registers (2017) (98)
- Recent advances in amyotrophic lateral sclerosis (2000) (98)
- Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale (2014) (97)
- The El Escorial criteria: Strengths and weaknesses (2015) (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)
- Detection of serum reverse transcriptase activity in patients with ALS and unaffected blood relatives (2005) (94)
- Genetic screening in sporadic ALS and FTD (2017) (93)
- Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases (2011) (91)
- Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry). (2007) (91)
- Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation (2008) (90)
- The multistep hypothesis of ALS revisited (2018) (89)
- Amyotrophic lateral sclerosis as a complex genetic disease. (2006) (86)
- SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis (2009) (84)
- Amyotrophic Lateral Sclerosis in South-East England: A Population-Based Study (2007) (83)
- Amyotrophic lateral sclerosis in an urban setting (2006) (82)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
- Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials (2014) (78)
- A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS (2009) (77)
- ATXN2 trinucleotide repeat length correlates with risk of ALS (2017) (77)
- Abnormal cortical excitability in sporadic but not homozygous D90A SOD1 ALS (2005) (76)
- Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis (2017) (75)
- What causes amyotrophic lateral sclerosis? (2017) (74)
- The ALSFRS as an outcome measure in therapeutic trials and its relationship to symptom onset (2016) (73)
- Genotyping DNA pools on microarrays: Tackling the QTL problem of large samples and large numbers of SNPs (2005) (72)
- Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials (2017) (69)
- Meta-analysis of linkage studies for Alzheimer's disease—A web resource (2009) (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)
- Amyotrophic lateral sclerosis (2017) (66)
- 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)
- Young-onset amyotrophic lateral sclerosis: historical and other observations. (2012) (64)
- RNA metabolism and the pathogenesis of motor neuron diseases (2010) (64)
- A clinical tool for predicting survival in ALS (2016) (63)
- The multistep hypothesis of ALS revisited The role of genetic mutations (2018) (62)
- Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case (1996) (62)
- Detection of reverse transcriptase activity in the serum of patients with motor neurone disease (2000) (62)
- The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. (2012) (61)
- Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability (2011) (60)
- Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients (2016) (60)
- 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)
- Common Genetic Variants and Gene-Expression Changes Associated with Bipolar Disorder Are Over-Represented in Brain Signaling Pathway Genes (2012) (59)
- Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. (2016) (58)
- New VAPB deletion variant and exclusion of VAPB mutations in familial ALS (2008) (58)
- C9orf72 intermediate expansions of 24–30 repeats are associated with ALS (2019) (58)
- Electrical injury and amyotrophic lateral sclerosis: a systematic review of the literature (2006) (57)
- Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis (2013) (57)
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis (2014) (56)
- The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure. (2007) (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)
- The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study (2014) (54)
- Mills’ and other isolated upper motor neurone syndromes: in vivo study with 11C-(R)-PK11195 PET (2005) (54)
- A large genome scan for rare CNVs in amyotrophic lateral sclerosis. (2010) (53)
- The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci (2009) (52)
- Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS (2012) (52)
- Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases (2018) (52)
- Comparison of the King’s and MiToS staging systems for ALS (2017) (51)
- Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD) (2013) (51)
- Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis (2007) (51)
- Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (2009) (48)
- Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET (2007) (48)
- Elongator subunit 3 (ELP3) modifies ALS through tRNA modification (2018) (48)
- A common haplotype within the PON1 promoter region is associated with sporadic ALS (2008) (47)
- Accepting or declining non-invasive ventilation or gastrostomy in amyotrophic lateral sclerosis: patients’ perspectives (2015) (46)
- Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis (2019) (45)
- Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial (2019) (45)
- Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis (2022) (44)
- Current pathways for epidemiological research in amyotrophic lateral sclerosis (2013) (43)
- Trouble on the pitch: are professional football players at increased risk of developing amyotrophic lateral sclerosis? (2005) (43)
- Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis (2015) (42)
- A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays (2005) (42)
- Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis (2003) (41)
- Large-scale pathways-based association study in amyotrophic lateral sclerosis. (2007) (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)
- The genetic architecture of ALS (2020) (39)
- Three soccer playing friends with simultaneous amyotrophic lateral sclerosis (2007) (39)
- Amyotrophic lateral sclerosis and cancer: A register-based study in Sweden (2013) (39)
- Nutritional factors associated with survival following enteral tube feeding in patients with motor neurone disease. (2010) (38)
- How integrated are neurology and palliative care services? Results of a multicentre mapping exercise (2016) (37)
- No association of DPP6 with amyotrophic lateral sclerosis in an Italian population (2011) (37)
- Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis (2019) (36)
- An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS (2014) (36)
- July 2017 ENCALS statement on edaravone (2017) (36)
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
- Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis (2015) (35)
- Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis (2022) (35)
- The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison (2017) (35)
- C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis (2016) (34)
- C ]-WAY 100635 PET demonstrates marked 5-HT 1 A receptor changes in sporadic ALS (1985) (33)
- Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders (2021) (33)
- Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample (2014) (32)
- Genetic testing in ALS (2017) (31)
- Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics (2020) (30)
- Genetic and epigenetic studies of amyotrophic lateral sclerosis (2013) (29)
- Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias (2018) (29)
- Focus on the heterogeneity of amyotrophic lateral sclerosis (2020) (29)
- PROGNOSTIC CATEGORIES FOR AMYOTROPHIC LATERAL SCLEROSIS (2012) (29)
- Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis (2015) (29)
- Nonmotor Symptoms in Amyotrophic Lateral Sclerosis: A Systematic Review. (2017) (28)
- Decision Making About Gastrostomy and Noninvasive Ventilation in Amyotrophic Lateral Sclerosis (2016) (28)
- ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization (2020) (28)
- Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis (2014) (28)
- Psychotherapy and pharmacotherapy interventions to reduce distress or improve well-being in people with amyotrophic lateral sclerosis: A systematic review (2015) (27)
- Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs sporadic ALS (2007) (27)
- 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)
- A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis (2017) (27)
- Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat (2013) (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)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (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)
- Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’ (2019) (26)
- Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution (2009) (25)
- Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial (2020) (25)
- H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis (2013) (25)
- Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study (2014) (24)
- Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis (2003) (24)
- The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients (2015) (23)
- Reconsidering the causality of TIA1 mutations in ALS (2018) (23)
- Comparison of two percutaneous radiological gastrostomy tubes in the nutritional management of ALS patients (2005) (23)
- Retrotransposons in the development and progression of amyotrophic lateral sclerosis (2018) (23)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- Management of sialorrhoea in motor neuron disease: A survey of current UK practice (2013) (22)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- Measuring reliable change in cognition using the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) (2016) (22)
- The relationships between symptoms, disability, perceived health and quality of life in amyotrophic lateral sclerosis/motor neuron disease (2019) (22)
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders (2021) (22)
- 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)
- CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? (2018) (21)
- A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
- Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology (2019) (21)
- Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding (2012) (21)
- TRICALS: creating a highway toward a cure (2020) (20)
- Infection of the Central Nervous System, Sepsis and Amyotrophic Lateral Sclerosis (2011) (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)
- Issues & opinion. Neurofilaments, free radicals, excitotoxins, and amyotrophic lateral sclerosis (1995) (20)
- Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31] (2011) (19)
- Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial (2019) (19)
- Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy (2019) (19)
- SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia (2008) (19)
- Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials (2019) (19)
- Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS (2022) (18)
- Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases (2021) (18)
- Genetic ablation of phospholipase C delta 1 increases survival in SOD1G93A mice (2013) (18)
- Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality (2007) (18)
- A standard operating procedure for King’s ALS clinical staging (2019) (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)
- Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes (2015) (18)
- Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse (2010) (18)
- Amyotrophic lateral sclerosis as a multi-step process: an Australia population study (2019) (18)
- Interaction between PON1 and population density in amyotrophic lateral sclerosis (2009) (17)
- No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS (2004) (17)
- Molecular insights and therapeutic targets in amyotrophic lateral sclerosis. (2008) (17)
- Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age (2016) (16)
- Clinical staging in amyotrophic lateral sclerosis: analysis of Edaravone Study 19 (2020) (16)
- Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy (2021) (16)
- Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature (2019) (16)
- Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients (2012) (16)
- Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis (2022) (16)
- 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)
- ECAS A-B-C: alternate forms of the Edinburgh Cognitive and Behavioural ALS Screen (2018) (16)
- Needs and preferences for psychological interventions of people with motor neuron disease (2019) (15)
- Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study (2019) (15)
- Lipidomic traits of plasma and cerebrospinal fluid in amyotrophic lateral sclerosis correlate with disease progression (2021) (15)
- Telomere length is greater in ALS than in controls: a whole genome sequencing study (2019) (15)
- Association of a Serotonin Receptor 2A Gene Polymorphism with Visual Sustained Attention in Early-Onset Schizophrenia Patients and their Non-Psychotic Siblings. (2012) (15)
- 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)
- Perspective: Don't keep it in the family (2017) (14)
- A Knowledge-Based Machine Learning Approach to Gene Prioritisation in Amyotrophic Lateral Sclerosis (2020) (14)
- Homozygosity analysis in amyotrophic lateral sclerosis (2013) (14)
- DGLinker: flexible knowledge-graph prediction of disease–gene associations (2021) (13)
- Infrastructure resources for clinical research in amyotrophic lateral sclerosis (2013) (13)
- Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia (2019) (13)
- Potential of the Cardiovascular Drug Levosimendan in the Management of Amyotrophic Lateral Sclerosis: An Overview of a Working Hypothesis. (2019) (12)
- A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS) (2016) (12)
- Exploring the Feasibility of Using Biotelemetry to Monitor Patients with Amyotrophic Lateral Sclerosis During Clinical Trials (Preprint) (2019) (12)
- Healthcare Professionals’ Views on the provision of Gastrostomy and Noninvasive Ventilation to Amyotrophic Lateral Sclerosis Patients in England, Wales, and Northern Ireland (2013) (12)
- Motor neuron disease: Common genetic variants and the heritability of ALS (2014) (12)
- Birth order and the genetics of amyotrophic lateral sclerosis (2007) (11)
- Diagnostic value of plasma neurofilament light: A multicentre validation study (2020) (11)
- Endogenous retroviruses in ALS: A reawakening? (2015) (11)
- SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed (2021) (10)
- Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (vol 41, pg 1088, 2009) (2013) (10)
- Evolution of white matter damage in amyotrophic lateral sclerosis (2020) (10)
- Amyotrophic Lateral Sclerosis. (2017) (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)
- Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology (2015) (10)
- DNAscan: personal computer compatible NGS analysis, annotation and visualisation (2019) (10)
- A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex (2021) (10)
- The Brain: A Beginner's Guide (2005) (10)
- Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS (2022) (10)
- Neurofilaments, free radicals, excitotoxins, and amyotrophic lateral sclerosis. (1995) (10)
- Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis (2013) (10)
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2014) (10)
- Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial (2021) (9)
- Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis (2012) (9)
- Analysis of terms used for the diagnosis and classification of amyotrophic lateral sclerosis and motor neuron disease (2016) (9)
- ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients (2019) (9)
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy (2022) (9)
- UK case control study of smoking and risk of amyotrophic lateral sclerosis (2020) (9)
- Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF (2020) (8)
- Response to the Letter from Garcia-Montojo and colleagues concerning our paper entitled, Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis (2019) (8)
- Facial Onset Sensory and Motor Neuronopathy (2020) (8)
- Finding a Treatment for ALS — Will Gene Editing Cut It? (2018) (8)
- Establishing the UK DNA Bank for motor neuron disease (MND) (2015) (8)
- The King's College London Coronavirus Health and Experiences of Colleagues at King's Study (KCL CHECK) protocol paper: a platform for study of the effects of coronavirus pandemic on staff and postgraduate students. (2020) (8)
- Development and validation of Spasticity Index—Amyotrophic Lateral Sclerosis (2018) (8)
- Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics (2013) (8)
- Susceptibility genes in sporadic ALS (2006) (7)
- The impact of age on genetic testing decisions in amyotrophic lateral sclerosis (2022) (7)
- Genetics of Complex Human Diseases: A Laboratory Manual (2009) (7)
- Prevalence and morbidity of chronic inflammatory neuropathies in South East England (2008) (7)
- Relationship between smoking and ALS: Mendelian randomisation interrogation of causality (2020) (7)
- Commentary: Mapping the Human Exposome: Without It, How Can We Find Environmental Risk Factors for ALS? (2015) (7)
- Motor Neuron Disease Register for England, Wales and Northern Ireland—an analysis of incidence in England (2020) (7)
- FORGE: multivariate calculation of gene-wide p-values from Genome-Wide Association Studies (2015) (6)
- Innovating Clinical Trials for Amyotrophic Lateral Sclerosis Challenging the Established Order (6)
- The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis (2020) (6)
- Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis (2016) (6)
- MaGIC: a program to generate targeted marker sets for genome-wide association studies. (2004) (6)
- Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways (2021) (5)
- Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2 (2021) (5)
- Innovating Clinical Trials for Amyotrophic Lateral Sclerosis (2021) (5)
- The Effect of SMN Gene Dosage on ALS Risk and Disease Severity (2021) (5)
- Faculty Opinions recommendation of Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. (2011) (5)
- GEOexplorer: a webserver for gene expression analysis and visualisation (2022) (5)
- Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis (2020) (5)
- The life expectancy of Stephen Hawking, according to the ENCALS model (2018) (5)
- Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK. (2021) (5)
- Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia (2018) (5)
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2021) (5)
- Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb (2016) (5)
- Impact of the covid-19 pandemic on amyotrophic lateral sclerosis care in the UK (2022) (4)
- Platform Communications: Abstract Book - 30th International Symposium on ALS/MND (Complete printable file) (2019) (4)
- Genome-wide association study of age at onset of Alzheimer's disease (2009) (4)
- Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial (2022) (4)
- A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+ (2009) (4)
- Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis (2015) (4)
- An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data (2022) (3)
- Prediction of personalised prognosis in patients with amyotrophic lateral sclerosis: development and validation of a prediction model (2018) (3)
- Preventing neurodegenerative disease. (2021) (3)
- Chapter 14 Familial amyotrophic lateral sclerosis. (2007) (3)
- Riluzole and Motor Neurone Disease (2003) (3)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (2022) (3)
- High-calorie diets in amyotrophic lateral sclerosis (2014) (3)
- Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation (2019) (2)
- DNAscan: a fast, computationally and memory efficient bioinformatics pipeline for the analysis of DNA next-generation-sequencing data (2018) (2)
- Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression (2022) (2)
- CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis (2018) (2)
- The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis (2022) (2)
- Does genetic anticipation occur in familial Alexander disease? (2021) (2)
- Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis (2021) (2)
- Novel Gender Selective Survival Effect of C9orf72 in European ALS Cohorts (P5.093) (2016) (2)
- Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease (2011) (2)
- Effect of adding nettle plant on some physiological and biochemical parameters of broiler chickens (2021) (2)
- Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. (2021) (2)
- 819 IMPROVEMENT OF SURVIVAL IN A SWINE MODEL OF ACUTE LIVER FAILURE BY A NEW LIVER SUPPORT SYSTEM (HEPA WASH (2010) (2)
- POD09 Using the chick embryo model system to study the neurotoxicity of TDP43 (2010) (1)
- Evaluation of a Health State Staging System Defined by Loss of Independence in Amyotrophic Lateral Sclerosis: Assessment in a Second Dataset (2013) (1)
- Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis (2021) (1)
- Prevalence of depression in amyotrophic lateral sclerosis/motor neuron disease: multi-attribute ascertainment and trajectories over 30 months (2022) (1)
- REM sleep physiology and selective neuronal vulnerability in amyotrophic lateral sclerosis (2020) (1)
- Genome-wide association studies. (2009) (1)
- A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol (2022) (1)
- Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis (2017) (1)
- New therapies for neuromuscular diseases in 2018 (2019) (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)
- RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data (2022) (1)
- Faculty Opinions recommendation of Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. (2017) (1)
- The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases (2023) (1)
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders (2021) (1)
- Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data (2022) (1)
- PONM19 The ALS Online Genetics Database (2010) (1)
- Multi-Centre Clinical Trial Data Using the King's Amyotrophic Lateral Sclerosis (ALS) Staging System (2013) (1)
- Detection of serum reverse transcriptase activity in amyotrophic lateral sclerosis patients and unaffected relatives (2004) (1)
- Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts (2022) (1)
- Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients (2016) (1)
- Faculty of 1000 evaluation for Physical activity, and physical activity related to sports, leisure and occupational activity as risk factors for ALS: A systematic review. (2017) (1)
- Mutant VAPB transgenic mice linked to amyotrophic lateral sclerosis type-8 develop TDP-43 pathology (2010) (1)
- Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis (2019) (1)
- Clinical trials in pediatric ALS: a TRICALS feasibility study (2022) (1)
- P12 Predictors of mood in amyotrophic lateral sclerosis: physical and psychological factors (2012) (1)
- The influence of genetic mutations on the multistep process in ALS (S4.004) (2018) (1)
- Clinical testing panels for ALS: global distribution, consistency, and challenges (2022) (1)
- Protocol for Rhapsody: a longitudinal observational study examining the feasibility of speech phenotyping for remote assessment of neurodegenerative and psychiatric disorders (2022) (1)
- The multidisciplinary clinic, quality of life and survival in motor neuron disease (2007) (1)
- IMMUNO-MODULATION IN AMYOTROPHIC LATERAL SCLEROSIS - A PHASE II STUDY OF SAFETY AND ACTIVITY OF LOW DOSE INTERLEUKIN-2 (IMODALS study) (S3.006) (2017) (1)
- 818 SURVIVAL IMPROVEMENT IN PIGS WITH LIVER FAILURE AND SUPERIMPOSED SEPSIS BY A NEW LIVER SUPPORT SYSTEM (HEPA WASH (2010) (1)
- Faculty of 1000 evaluation for Military service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survival. (2017) (1)
- Heritability of amyotrophic lateral sclerosis. (2014) (1)
- Harnessing Transcriptomic Signals for Amyotrophic Lateral Sclerosis to Identify Novel Drugs and Enhance Risk Prediction (2023) (1)
- Correlations between measures of ALS respiratory function: is there an alternative to FVC? (2021) (0)
- A Data-Driven Characterisation of the Evolution of White Matter Damage in Amyotrophic Lateral Sclerosis (2020) (0)
- Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- The Neurogenetics Collection: emerging themes and future considerations for the field in Brain. (2022) (0)
- A GENOME-WIDE ASSOCIATION STUDY IN PROGRESSIVE SUPRANUCLEAR PALSY (2015) (0)
- SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis (2023) (0)
- Contents Vol. 71, 2011 (2011) (0)
- Repeated Assessment of Mental health in Pandemics (RAMP) (2020) (0)
- The MND register for England, Wales and Northern Ireland (2019) (0)
- Tau doesn't contribute to the pathogenesis of amyotrophic lateral sclerosis (2008) (0)
- Unsupervised machine learning identifies distinct molecular and phenotypic ALS subtypes in post-mortem motor cortex and blood expression data (2023) (0)
- Faculty of 1000 evaluation for Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis. (2017) (0)
- Poster Presentations (2015) (0)
- Rutter-Locher 1 Full Title: Analysis of the terms used for the diagnosis and classification of amyotrophic lateral sclerosis and motor neuron disease Running title: Analysis of terms used for amyotrophic lateral sclerosis (0)
- RetroSnake: a Modular End-to-End Pipeline for Detection of Human Endogenous Retrovirus (HERV) Transposable Elements in Next Generation Sequencing (NGS) Data (2022) (0)
- Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2017) (0)
- Degeneration TRICALS: creating a highway toward a cure (2020) (0)
- Response to the Letter from Garcia-Montojo and colleagues concerning our paper entitled, Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis (2019) (0)
- VEGF is a modifier gene of amyotrophic lateral sclerosis in humans (2003) (0)
- Validation of an Amyotrophic Lateral Sclerosis Staging System Using Clinical Trial Data (2013) (0)
- Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis (2020) (0)
- Faculty of 1000 evaluation for Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. (2017) (0)
- a copy of Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial (2020) (0)
- Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis (2019) (0)
- AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH AN INTERMEDIATE LENGTH GGGGCC REPEAT EXPANSION HAS DISTINCT NEUROPATHOLOGY COMPARED TO PATIENTS WITH LARGER EXPANSIONS (2014) (0)
- GENE SET ENRICHMENT ANALYSIS IN AMYOTROPHIC LATERAL SCLEROSIS (2015) (0)
- UvA-DARE ( Digital Academic Repository ) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome (2017) (0)
- Author Correction: A HML6 endogenous retrovirus on chromosome 3 is upregulated in amyotrophic lateral sclerosis motor cortex (2022) (0)
- DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for next-generation sequencing data (2022) (0)
- Amyotrophic lateral sclerosis in an urban setting A population based (2007) (0)
- Disease-modifying pharmacological treatments for amyotrophic lateral sclerosis/motor neuron disease: an overview of intervention reviews (2023) (0)
- Is the familial Amyotrophic Lateral Sclerosis (ALS) classification fit for purpose (2012) (0)
- Running title: Genome-wide association study in long QT syndrome (2020) (0)
- Comprehensive Research Synopsis and Systematic Meta-Analyses in ALS Genetics: The ALSGene Database (P01.095) (2012) (0)
- Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival (2022) (0)
- Correction to: Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature (2020) (0)
- Faculty Opinions recommendation of Factors Predicting Survival in ALS Patients--Data from a Population-Based Registry in Rhineland-Palatinate, Germany. (2017) (0)
- No evidence for common genetic variants shared between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) (2011) (0)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Genetics of the MNDs (2012) (0)
- LITHIUM CARBONATE IS NOT BENEFICIAL FOR PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS: RESULTS OF THE LICALS TRIAL [EUDRACT NUMBER: 2008-006891-31] (2012) (0)
- Faculty Opinions recommendation of Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study. (2017) (0)
- Faculty Opinions recommendation of Validation of the Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen (ECAS): A cognitive tool for motor disorders. (2017) (0)
- Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis. (2022) (0)
- Ask the Experts: Translating amyotrophic lateral sclerosis genetics to the clinic: implications for the patient (2012) (0)
- Journal Pre-proof RetroSnake: a Modular Pipeline for Detection of Human Endogenous Retroviruses in Genome Sequencing data (2022) (0)
- Capture of Functional Decline in International Phase III Multi-Centre Clinical Trial Data Using the King's Amyotrophic Lateral Sclerosis (ALS) Staging System (P07.074) (2013) (0)
- The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS) (2010) (0)
- Faculty Opinions recommendation of Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. (2010) (0)
- Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis (2022) (0)
- Clinical Feasibility of Speech Phenotyping for Remote Assessment of Neurodegenerative and Psychiatric Disorders (RHAPSODY): a study protocol (2022) (0)
- A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression (2022) (0)
- Calculating variant penetrance using family history of disease and population data (2021) (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)
- PO192 Upper and lower motor burden is related to prognosis in als (2017) (0)
- Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases (2018) (0)
- UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target (2023) (0)
- Genetic variability in sporadic amyotrophic lateral sclerosis. (2023) (0)
- Neurogenetics: Amyotrophic lateral sclerosis and other disorders of the lower motor neuron (2012) (0)
- Faculty of 1000 evaluation for Amyotrophic lateral sclerosis and environmental factors (2017) (0)
- Genome-wide association study of Alzheimer's with psychotic symptoms (2009) (0)
- Faculty of 1000 evaluation for The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. (2017) (0)
- Stage of prolonged survival in ALS – Author's reply (2018) (0)
- Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients (2016) (0)
- ALSgeneScanner: a pipeline for the analysis and interpretation of DNA NGS data of ALS patients (2018) (0)
- Measuring coping in people with amyotrophic lateral sclerosis using the Coping Index-ALS: A patient derived, Rasch compliant scale (2020) (0)
- Coping Index-ALS (2021) (0)
- COGNITIVE IMPAIRMENT OCCURS BEFORE LOSS OF FUNCTION IN ALS (2016) (0)
- Faculty of 1000 evaluation for Heritability of amyotrophic lateral sclerosis: insights from disparate numbers. (2017) (0)
- The Population Based Prevalence and Phenotype of 9p21 Hexanucleotide Repeats in ALS/FTD (S05.004) (2012) (0)
- Intuitive Staging Correlates With King’s Clinical Stage (2021) (0)
- Mutafy: A webserver to identify high quality mutant protein structures in the Protein Data Bank (2023) (0)
- Title A central resource for accurate allele frequency estimation frompooled DNA genotyped on DNA microarrays (2005) (0)
- Genetic risk factors in amytrophic lateral sclerosis. (1999) (0)
- Mutations in the Glycosylt ransferase Domain of GLT 8 D 1 Are Associated with Familial Amyotrophic Lateral Sclerosis Graphical (2019) (0)
- Special issue on ALS (2006) (0)
- THEME 9 CLINICAL TRIALS AND TRIAL DESIGN CLT-01 RNS60 in ALS: Expanded Access Program (0)
- Polygenic Prediction of Molecular Traits using Large-Scale Meta-analysis Summary Statistics (2022) (0)
- Neurodegenerative Diseases: The genetics of amyotrophic lateral sclerosis (2005) (0)
- Exploring the use of synthetic placebo populations in ALS randomized clinical trials (2022) (0)
- Partitioning the genetic architecture of amyotrophic lateral sclerosis (2018) (0)
- Chapter 63 – Sporadic Motor Neuron Degeneration (2005) (0)
- Combined genome-wide analysis identifies UNC13A and chromosome 9P21.1 as shared loci for susceptibility to amyotrophic lateral sclerosis and frontotemporal lobar degeneration (2011) (0)
- A roadmap to ALS prevention: strategies and priorities (2023) (0)
- Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2016) (0)
- 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS (2019) (0)
- Faculty Opinions recommendation of Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis. (2017) (0)
- An examination of previously reported Alzheimer candidate genes within a large genome-wide association dataset (2009) (0)
- Faculty of 1000 evaluation for Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. (2011) (0)
- Multi-step analysis shows that late onset ALS with slow progression may represent a distinct aetiological subgroup (2016) (0)
- Faculty Opinions recommendation of Development and evaluation of a clinical staging system for amyotrophic lateral sclerosis. (2017) (0)
- Statistical examination of shared loci in neuropsychiatric diseases using genome-wide association study summary statistics (2023) (0)
- Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology (2023) (0)
- Calculating variant penetrance from family history of disease and average family size in population-scale data (2022) (0)
- Liver support systems (2009) (0)
- Chapter 67 – Inherited Motor Neuron Degeneration (2005) (0)
- Facilitating data transfer from a patient community to the ALS Online Genetics Database (ALSoD) (2017) (0)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (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)
- Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12 (2022) (0)
- Amyotrophic lateral sclerosis and cerebellum (2022) (0)
- Faculty Opinions recommendation of Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (2017) (0)
- Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis (2022) (0)
- Modifying genes in amyotrophic lateral sclerosis (2021) (0)
- #3090 Different measures of behavioural involvement in amyotrophic lateral sclerosis yield varying rates of behavioural change (2021) (0)
- Both loss and gain of TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration in Drosophilia (2012) (0)
- Transcriptomics Analyses of ALS Post-mortem Motor Cortex highlight alteration and potential biomarkers in the Neuropeptide Signalling pathway (2023) (0)
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