| 1 | Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis | 4.5 | 31 | Citations (PDF) |
| 2 | Disruption of ER‐mitochondria tethering and signalling in <i>C9orf72</i>‐associated amyotrophic lateral sclerosis and frontotemporal dementia | 7.0 | 42 | Citations (PDF) |
| 3 | Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries | 12.8 | 25 | Citations (PDF) |
| 4 | Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS | 13.1 | 55 | Citations (PDF) |
| 5 | C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity | 3.1 | 4 | Citations (PDF) |
| 6 | Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis | 12.8 | 65 | Citations (PDF) |
| 7 | Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11 | 0.6 | 3 | Citations (PDF) |
| 8 | Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD | 3.6 | 9 | Citations (PDF) |
| 9 | ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells | 3.7 | 5 | Citations (PDF) |
| 10 | Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1 | 3.7 | 12 | Citations (PDF) |
| 11 | Cytoplasmic TDP-43 is involved in cell fate during stress recovery | 3.1 | 15 | Citations (PDF) |
| 12 | Demystifying the spontaneous phenomena of motor hyperexcitability | 1.0 | 16 | Citations (PDF) |
| 13 | Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis | 2.1 | 6 | Citations (PDF) |
| 14 | A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay | 3.4 | 4 | Citations (PDF) |
| 15 | <i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed | 3.8 | 13 | Citations (PDF) |
| 16 | Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology | 16.3 | 246 | Citations (PDF) |
| 17 | Mutant <i>C9orf72</i> human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiologyGlia, 2020, 68, 1046-1064 | 5.2 | 86 | Citations (PDF) |
| 18 | The use of biotelemetry to explore disease progression markers in amyotrophic lateral sclerosis | 2.9 | 16 | Citations (PDF) |
| 19 | ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function | 7.7 | 60 | Citations (PDF) |
| 20 | CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosisBrain, 2020, 143, 783-799 | 8.9 | 59 | Citations (PDF) |
| 21 | <i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization | 3.8 | 36 | Citations (PDF) |
| 22 | 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 | 2.3 | 13 | Citations (PDF) |
| 23 | C9orf72 intermediate expansions of 24–30 repeats are associated with ALS | 5.1 | 72 | Citations (PDF) |
| 24 | RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathyBrain, 2019, 142, 3753-3770 | 8.9 | 66 | Citations (PDF) |
| 25 | 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 | 3.0 | 13 | Citations (PDF) |
| 26 | Relative preservation of triceps over biceps strength in upper limb-onset ALS: the ‘split elbow’ | 2.0 | 36 | Citations (PDF) |
| 27 | 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 | 2.9 | 22 | Citations (PDF) |
| 28 | Telomere length is greater in ALS than in controls: a whole genome sequencing study | 2.9 | 20 | Citations (PDF) |
| 29 | Nuclear RNA foci from<i>C9ORF72</i>expansion mutation form paraspeckle-like bodies | 3.2 | 31 | Citations (PDF) |
| 30 | Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing | 16.3 | 1,802 | Citations (PDF) |
| 31 | Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein | 12.4 | 96 | Citations (PDF) |
| 32 | Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort | 3.4 | 26 | Citations (PDF) |
| 33 | Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia | 3.4 | 13 | Citations (PDF) |
| 34 | Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias | 2.0 | 38 | Citations (PDF) |
| 35 | Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study | 5.5 | 35 | Citations (PDF) |
| 36 | C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity | 14.1 | 142 | Citations (PDF) |
| 37 | Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice | 3.1 | 71 | Citations (PDF) |
| 38 | Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model | 19.1 | 372 | Citations (PDF) |
| 39 | Genome-wide Analyses Identify KIF5A as a Novel ALS Gene | 12.8 | 482 | Citations (PDF) |
| 40 | A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegenerationBrain, 2018, 141, 2908-2924 | 8.9 | 67 | Citations (PDF) |
| 41 | ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS | 12.8 | 162 | Citations (PDF) |
| 42 | ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS | 1.3 | 175 | Citations (PDF) |
| 43 | ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function | 3.4 | 61 | Citations (PDF) |
| 44 | TDP-43 causes neurotoxicity and cytoskeletal dysfunction in primary cortical neurons | 2.5 | 23 | Citations (PDF) |
| 45 | Amyotrophic Lateral Sclerosis and Other TDP-43 Proteinopathies 2018, , 99-115 | | 1 | Citations (PDF) |
| 46 | ATXN2 trinucleotide repeat length correlates with risk of ALS | 3.4 | 96 | Citations (PDF) |
| 47 | C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis | 2.0 | 34 | Citations (PDF) |
| 48 | Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development | 12.8 | 53 | Citations (PDF) |
| 49 | A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKBrain, 2017, 140, 1611-1618 | 8.9 | 66 | Citations (PDF) |
| 50 | Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis | 13.1 | 127 | Citations (PDF) |
| 51 | Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson’s disease brain | 7.9 | 80 | Citations (PDF) |
| 52 | C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity | 3.1 | 66 | Citations (PDF) |
| 53 | Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials | 1.3 | 81 | Citations (PDF) |
| 54 | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease | 16.3 | 683 | Citations (PDF) |
| 55 | The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison | 2.9 | 38 | Citations (PDF) |
| 56 | C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue | 3.4 | 16 | Citations (PDF) |
| 57 | RNA Misprocessing in C9orf72-Linked Neurodegeneration | 3.5 | 32 | Citations (PDF) |
| 58 | A clinical tool for predicting survival in ALS | 2.0 | 65 | Citations (PDF) |
| 59 | <scp>ALS</scp>/<scp>FTD</scp>‐associated<scp>FUS</scp>activates<scp>GSK</scp>‐3β to disrupt the<scp>VAPB</scp>–<scp>PTPIP</scp>51 interaction and<scp>ER</scp>–mitochondria associations | 5.3 | 211 | Citations (PDF) |
| 60 | Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs | 12.8 | 431 | Citations (PDF) |
| 61 | Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis | 2.9 | 18 | Citations (PDF) |
| 62 | Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis | 16.3 | 414 | Citations (PDF) |
| 63 | NEK1 variants confer susceptibility to amyotrophic lateral sclerosis | 16.3 | 199 | Citations (PDF) |
| 64 | CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia | 14.1 | 173 | Citations (PDF) |
| 65 | Reply: The role ofDNAJB2in amyotrophic lateral sclerosisBrain, 2016, 139, e58-e58 | 8.9 | 0 | Citations (PDF) |
| 66 | Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis | 14.3 | 55 | Citations (PDF) |
| 67 | The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosisBrain, 2016, 139, 1417-1432 | 8.9 | 129 | Citations (PDF) |
| 68 | Maturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytes | 3.3 | 63 | Citations (PDF) |
| 69 | Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease | 3.4 | 8 | Citations (PDF) |
| 70 | Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD | 5.1 | 42 | Citations (PDF) |
| 71 | ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation | 5.1 | 23 | Citations (PDF) |
| 72 | U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish | 16.2 | 70 | Citations (PDF) |
| 73 | TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets | 6.5 | 242 | Citations (PDF) |
| 74 | VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK | 1.4 | 9 | Citations (PDF) |
| 75 | Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways | 38.2 | 763 | Citations (PDF) |
| 76 | Impact of disease, cognitive and behavioural factors on caregiver outcome in amyotrophic lateral sclerosis | 2.9 | 33 | Citations (PDF) |
| 77 | Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis | 2.9 | 4 | Citations (PDF) |
| 78 | Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population | 3.4 | 10 | Citations (PDF) |
| 79 | Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes | 3.4 | 19 | Citations (PDF) |
| 80 | TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations | 3.4 | 40 | Citations (PDF) |
| 81 | The role of <i>TREM2</i> R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease | 0.7 | 153 | Citations (PDF) |
| 82 | Phosphorylation of C-terminal tyrosine 526 in FUS impairs its nuclear import | 3.2 | 24 | Citations (PDF) |
| 83 | Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS | 5.1 | 74 | Citations (PDF) |
| 84 | Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability | 14.1 | 219 | Citations (PDF) |
| 85 | Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis | 3.4 | 37 | Citations (PDF) |
| 86 | The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients | 3.4 | 19 | Citations (PDF) |
| 87 | 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 | 5.1 | 77 | Citations (PDF) |
| 88 | Novel mutations support a role for Profilin 1 in the pathogenesis of ALS | 3.4 | 80 | Citations (PDF) |
| 89 | An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS | 2.5 | 27 | Citations (PDF) |
| 90 | ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43 | 14.1 | 474 | Citations (PDF) |
| 91 | A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriersBrain, 2014, 137, 2875-2876 | 8.9 | 0 | Citations (PDF) |
| 92 | Psychological as well as illness factors influence acceptance of non-invasive ventilation (NIV) and gastrostomy in amyotrophic lateral sclerosis (ALS): A prospective population study | 2.9 | 48 | Citations (PDF) |
| 93 | Differential roles of the ubiquitin proteasome system (UPS) and autophagy in the clearance of soluble and aggregated TDP-43 species | 3.2 | 197 | Citations (PDF) |
| 94 | Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene | 2.9 | 11 | Citations (PDF) |
| 95 | A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in<i>C9orf72</i>reveals marked differences in results among 14 laboratories | 3.7 | 102 | Citations (PDF) |
| 96 | A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis | 3.1 | 110 | Citations (PDF) |
| 97 | Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study | 19.1 | 312 | Citations (PDF) |
| 98 | The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study | 2.9 | 57 | Citations (PDF) |
| 99 | No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis | 3.1 | 21 | Citations (PDF) |
| 100 | Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models | 7.3 | 341 | Citations (PDF) |
| 101 | <scp><i>C9orf72</i></scp> and <scp><i>UNC13A</i></scp> are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis | 6.6 | 80 | Citations (PDF) |
| 102 | Evidence of an environmental effect on survival in ALS | 2.9 | 15 | Citations (PDF) |
| 103 | Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale | 2.9 | 112 | Citations (PDF) |
| 104 | Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo | 5.2 | 25 | Citations (PDF) |
| 105 | Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells | 2.5 | 38 | Citations (PDF) |
| 106 | Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat | 3.4 | 21 | Citations (PDF) |
| 107 | Neuromuscular disease: new insights and avenues for therapy | 19.1 | 2 | Citations (PDF) |
| 108 | Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis | 3.0 | 43 | Citations (PDF) |
| 109 | H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis | 3.4 | 18 | Citations (PDF) |
| 110 | pNfH is a promising biomarker for ALS | 2.9 | 64 | Citations (PDF) |
| 111 | ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 | 7.7 | 358 | Citations (PDF) |
| 112 | Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS | 40.1 | 1,150 | Citations (PDF) |
| 113 | Comment on “Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells” | 13.1 | 7 | Citations (PDF) |
| 114 | Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes | 3.1 | 108 | Citations (PDF) |
| 115 | Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis? | 2.0 | 126 | Citations (PDF) |
| 116 | ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules | 3.1 | 189 | Citations (PDF) |
| 117 | Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD | 3.1 | 65 | Citations (PDF) |
| 118 | Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy | 7.7 | 279 | Citations (PDF) |
| 119 | Unpicking neurodegeneration in a dish with human pluripotent stem cells | 3.2 | 2 | Citations (PDF) |
| 120 | Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia | 7.9 | 41 | Citations (PDF) |
| 121 | Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations | 2.5 | 105 | Citations (PDF) |
| 122 | Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria | 3.1 | 114 | Citations (PDF) |
| 123 | VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis | 3.1 | 432 | Citations (PDF) |
| 124 | No evidence for a large difference in ALS frequency in populations of African and European origin: A population based study in inner city London | 2.3 | 12 | Citations (PDF) |
| 125 | The Role of Variation at AβPP, PSEN1, PSEN2, and MAPT in Late Onset Alzheimer's Disease | 2.7 | 50 | Citations (PDF) |
| 126 | Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis | 3.4 | 9 | Citations (PDF) |
| 127 | Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients | 3.4 | 16 | Citations (PDF) |
| 128 | Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients | 3.4 | 17 | Citations (PDF) |
| 129 | Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability | 7.7 | 276 | Citations (PDF) |
| 130 | A proposed staging system for amyotrophic lateral sclerosisBrain, 2012, 135, 847-852 | 8.9 | 334 | Citations (PDF) |
| 131 | Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain | 3.7 | 213 | Citations (PDF) |
| 132 | Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding | 2.3 | 18 | Citations (PDF) |
| 133 | Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS | 2.5 | 46 | Citations (PDF) |
| 134 | Amyotrophic lateral sclerosis and other disorders of the lower motor neuron 2012, , 136-147 | | 0 | Citations (PDF) |
| 135 | An MND/ALS phenotype associated with <i>C9orf72</i> repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline | 1.3 | 110 | Citations (PDF) |
| 136 | Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant | 7.9 | 69 | Citations (PDF) |
| 137 | Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion | 7.9 | 216 | Citations (PDF) |
| 138 | The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder | 3.1 | 185 | Citations (PDF) |
| 139 | Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS | 4.0 | 123 | Citations (PDF) |
| 140 | Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease | 16.3 | 1,637 | Citations (PDF) |
| 141 | Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 | 12.4 | 874 | Citations (PDF) |
| 142 | Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: Implications for human motor neuron disease | 2.2 | 35 | Citations (PDF) |
| 143 | Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders | 7.9 | 69 | Citations (PDF) |
| 144 | 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 | 7.9 | 419 | Citations (PDF) |
| 145 | The risk to relatives of patients with sporadic amyotrophic lateral sclerosisBrain, 2011, 134, 3454-3457 | 8.9 | 48 | Citations (PDF) |
| 146 | Analysis of alternative splicing associated with aging and neurodegeneration in the human brain | 4.6 | 192 | Citations (PDF) |
| 147 | Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study | 19.1 | 182 | Citations (PDF) |
| 148 | Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease | 2.5 | 328 | Citations (PDF) |
| 149 | Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase | 7.7 | 212 | Citations (PDF) |
| 150 | Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degenerationBrain, 2010, 133, 1763-1771 | 8.9 | 164 | Citations (PDF) |
| 151 | Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesBrain, 2010, 133, 1798-1809 | 8.9 | 113 | Citations (PDF) |
| 152 | Cloning in Research and Treatment of Human Genetic Disease 2010, , 875-883 | | 0 | Citations (PDF) |
| 153 | The association between ALS and population density: A population based study | 2.3 | 16 | Citations (PDF) |
| 154 | Latent Cluster Analysis of ALS Phenotypes Identifies Prognostically Differing Groups | 2.5 | 55 | Citations (PDF) |
| 155 | Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration | 3.1 | 483 | Citations (PDF) |
| 156 | Reduced expression of the
<i>Kinesin-Associated Protein 3</i>
(
<i>KIFAP3</i>
) gene increases survival in sporadic amyotrophic lateral sclerosis | 7.7 | 154 | Citations (PDF) |
| 157 | Neurofilament subunit (NFL) head domain phosphorylation regulates axonal transport of neurofilaments | 3.9 | 47 | Citations (PDF) |
| 158 | Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease | 16.3 | 2,536 | Citations (PDF) |
| 159 | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis | 16.3 | 315 | Citations (PDF) |
| 160 | Frontotemporal lobar degeneration with ubiquitinated tau‐negative inclusions and additional α‐synuclein pathology but also unusual cerebellar ubiquitinated p62‐positive, TDP‐43‐negative inclusions | 1.3 | 16 | Citations (PDF) |
| 161 | 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 | 1.3 | 102 | Citations (PDF) |
| 162 | Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution | 3.8 | 25 | Citations (PDF) |
| 163 | Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 | 38.2 | 2,151 | Citations (PDF) |
| 164 | Interaction between PON1 and population density in amyotrophic lateral sclerosis | 1.5 | 16 | Citations (PDF) |
| 165 | The Role of Copy Number Variation in Susceptibility to Amyotrophic Lateral Sclerosis: Genome-Wide Association Study and Comparison with Published Loci | 2.5 | 39 | Citations (PDF) |
| 166 | Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development | 3.7 | 62 | Citations (PDF) |
| 167 | Deregulation of PKN1 activity disrupts neurofilament organisation and axonal transport | 2.8 | 35 | Citations (PDF) |
| 168 | TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis | 38.2 | 2,127 | Citations (PDF) |
| 169 | A common haplotype within the PON1 promoter region is associated with sporadic ALS | 2.3 | 37 | Citations (PDF) |
| 170 | Association study on glutathione S‐transferase omega 1 and 2 and familial ALS | 2.3 | 19 | Citations (PDF) |
| 171 | Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis | 3.3 | 372 | Citations (PDF) |
| 172 | Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances | 1.3 | 22 | Citations (PDF) |
| 173 | Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis | 2.3 | 42 | Citations (PDF) |
| 174 | Large-scale pathways-based association study in amyotrophic lateral sclerosisBrain, 2007, 130, 2292-2301 | 8.9 | 28 | Citations (PDF) |
| 175 | Chapter 14 Familial amyotrophic lateral sclerosis | 0.0 | 3 | Citations (PDF) |
| 176 | Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content | 3.1 | 348 | Citations (PDF) |
| 177 | Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET | 3.4 | 39 | Citations (PDF) |
| 178 | Birth order and the genetics of amyotrophic lateral sclerosis | 3.4 | 6 | Citations (PDF) |
| 179 | Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3Brain, 2006, 129, 868-876 | 8.9 | 341 | Citations (PDF) |
| 180 | Amyotrophic lateral sclerosis in an urban setting | 3.4 | 161 | Citations (PDF) |
| 181 | Susceptibility genes in sporadic ALS: Separating the wheat from the chaff by international collaboration | 1.3 | 9 | Citations (PDF) |
| 182 | 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 | 2.3 | 54 | Citations (PDF) |
| 183 | Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? | 2.0 | 95 | Citations (PDF) |
| 184 | Amyotrophic Lateral Sclerosis/Motor Neuron Disease 2006, , 1-18 | | 4 | Citations (PDF) |
| 185 | Clinical grand round: A rapidly progressive pyramidal and extrapyramidal syndrome with a supranuclear gaze palsy | 5.3 | 5 | Citations (PDF) |
| 186 | ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth | 2.3 | 74 | Citations (PDF) |
| 187 | Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 | 16.3 | 441 | Citations (PDF) |
| 188 | p38α stress-activated protein kinase phosphorylates neurofilaments and is associated with neurofilament pathology in amyotrophic lateral sclerosis | 2.2 | 98 | Citations (PDF) |
| 189 | Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis | 1.0 | 18 | Citations (PDF) |
| 190 | Riluzole and Motor Neurone Disease | 1.4 | 1 | Citations (PDF) |
| 191 | VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death | 16.3 | 739 | Citations (PDF) |
| 192 | Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments | 4.8 | 177 | Citations (PDF) |
| 193 | Identification of a Novel, Membrane-Associated Neuronal Kinase, Cyclin-Dependent Kinase 5/p35-Regulated Kinase | 3.7 | 61 | Citations (PDF) |
| 194 | Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport | 3.1 | 176 | Citations (PDF) |
| 195 | Reports | 2.5 | 5 | Citations (PDF) |
| 196 | D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for aCis-acting disease modifier in the recessive haplotype | 4.1 | 80 | Citations (PDF) |
| 197 | Overexpressed human survival motor neurone isoforms, SMNΔexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution | 2.8 | 6 | Citations (PDF) |
| 198 | Progress in the pathogenesis of amyotrophic lateral sclerosis | 4.7 | 51 | Citations (PDF) |
| 199 | The enhanced antigen-specific production of cytokines induced by pertussis toxin is due to clonal expansion of T cells and not to altered effector functions of long-term memory cells | 3.5 | 62 | Citations (PDF) |
| 200 | Glutamate Slows Axonal Transport of Neurofilaments in Transfected Neurons | 4.8 | 148 | Citations (PDF) |
| 201 | Review: Glial lineages and myelination in the central nervous system | 1.8 | 93 | Citations (PDF) |
| 202 | Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability | 2.0 | 46 | Citations (PDF) |
| 203 | Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis | 1.6 | 57 | Citations (PDF) |
