| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.22319 |
| P8608 | Fatcat ID | release_gxm7bebjtrfhnf56ecpn773dpq |
| P698 | PubMed publication ID | 23559573 |
| P5875 | ResearchGate publication ID | 236114813 |
| P50 | author | Serena Lattante | Q90774790 |
| Guy A. Rouleau | Q3121500 | ||
| P2093 | author name string | Edor Kabashi | |
| P2860 | cites work | Novel missense and truncating mutations in FUS/TLS in familial ALS | Q84595745 |
| Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese | Q84626353 | ||
| TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis | Q84738793 | ||
| Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation | Q85010059 | ||
| A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 | Q24291755 | ||
| Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS | Q24297462 | ||
| A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis | Q24304337 | ||
| TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein | Q24304942 | ||
| Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia | Q24309521 | ||
| Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs | Q24317451 | ||
| DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) | Q24533845 | ||
| Higher order arrangement of the eukaryotic nuclear bodies | Q24536097 | ||
| Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia | Q24600027 | ||
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study | Q24600803 | ||
| Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis | Q24619298 | ||
| Exome sequencing reveals VCP mutations as a cause of familial ALS | Q24631513 | ||
| Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS | Q24633692 | ||
| A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD | Q24634583 | ||
| TDP-43-mediated neuron loss in vivo requires RNA-binding activity | Q27321280 | ||
| TDP-1/TDP-43 regulates stress signaling and age-dependent proteotoxicity in Caenorhabditis elegans | Q27332459 | ||
| FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis | Q27339258 | ||
| Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis | Q28131672 | ||
| Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis | Q28131805 | ||
| The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis | Q28190263 | ||
| Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis | Q28236796 | ||
| Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 | Q28236805 | ||
| Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 | Q28253639 | ||
| Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 | Q28253651 | ||
| TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor | Q28261458 | ||
| TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis | Q28270779 | ||
| TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing | Q28271899 | ||
| Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity | Q37164410 | ||
| Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. | Q37171556 | ||
| TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease | Q37179756 | ||
| TDP-43: a novel neurodegenerative proteinopathy | Q37183193 | ||
| TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis | Q37213414 | ||
| The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. | Q37254394 | ||
| Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations | Q37344346 | ||
| Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort | Q37393988 | ||
| Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation | Q37408567 | ||
| Rethinking ALS: the FUS about TDP-43. | Q37419912 | ||
| The molecular links between TDP-43 dysfunction and neurodegeneration | Q37593727 | ||
| How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? | Q38060527 | ||
| TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration | Q38382616 | ||
| Motor neuron dysfunction in frontotemporal dementia. | Q38486371 | ||
| Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis | Q39240882 | ||
| Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations | Q39464446 | ||
| Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery. | Q39761567 | ||
| Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo | Q39767215 | ||
| Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations | Q39811341 | ||
| TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases | Q39836728 | ||
| Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin | Q39838808 | ||
| Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. | Q40075711 | ||
| Structural diversity and functional implications of the eukaryotic TDP gene family | Q40608660 | ||
| TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia | Q41667459 | ||
| Drosophila Answers to TDP-43 Proteinopathies | Q42137147 | ||
| Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement. | Q42512709 | ||
| Evidence for an oligogenic basis of amyotrophic lateral sclerosis | Q42650955 | ||
| Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43. | Q42940304 | ||
| Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS. | Q43013906 | ||
| TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan | Q43162544 | ||
| Genetic contribution of FUS to frontotemporal lobar degeneration | Q43177598 | ||
| A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. | Q43253177 | ||
| Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. | Q43298473 | ||
| FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. | Q43506728 | ||
| Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila | Q43719849 | ||
| De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. | Q43882846 | ||
| FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. | Q44468634 | ||
| The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study | Q44591084 | ||
| Novel TARDBP mutations in Nordic ALS patients | Q44606466 | ||
| C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany | Q44850501 | ||
| Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis | Q45144138 | ||
| Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease | Q45291590 | ||
| The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases | Q45295489 | ||
| VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death | Q45863485 | ||
| Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis | Q82901078 | ||
| Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin | Q83460893 | ||
| Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin | Q84104762 | ||
| Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation | Q84198058 | ||
| Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease | Q84433422 | ||
| SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations | Q84473922 | ||
| Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling | Q84483276 | ||
| Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 | Q28274687 | ||
| TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia | Q28294001 | ||
| Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis | Q28473603 | ||
| Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation | Q29547561 | ||
| Mutations of optineurin in amyotrophic lateral sclerosis | Q29614836 | ||
| TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis | Q29615597 | ||
| TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis | Q29616311 | ||
| ALS: a disease of motor neurons and their nonneuronal neighbors | Q29618000 | ||
| A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro | Q30482763 | ||
| TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration | Q30490978 | ||
| Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6 | Q30492839 | ||
| TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration | Q30493749 | ||
| Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis | Q30494776 | ||
| Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43 | Q30505515 | ||
| The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth. | Q30523244 | ||
| Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion | Q30532680 | ||
| ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43. | Q30536540 | ||
| TARDBP mutations in Parkinson's disease | Q30536779 | ||
| TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis | Q33342840 | ||
| Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis | Q33524925 | ||
| Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration | Q33601762 | ||
| Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis | Q33649745 | ||
| SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis | Q33656243 | ||
| TDP-43 is a developmentally regulated protein essential for early embryonic development | Q33673895 | ||
| Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy | Q33725391 | ||
| A Drosophila model for TDP-43 proteinopathy | Q33733651 | ||
| Incidence of amyotrophic lateral sclerosis in Europe | Q33774202 | ||
| Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS). | Q33799562 | ||
| Biomarkers in frontotemporal lobar degenerations--progress and challenges | Q33893515 | ||
| Mutational analysis of TARDBP in neurodegenerative diseases | Q33927552 | ||
| TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. | Q33932237 | ||
| Neuronal function and dysfunction of Drosophila dTDP | Q33932740 | ||
| FUS mutations in sporadic amyotrophic lateral sclerosis | Q33937517 | ||
| Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS). | Q34010341 | ||
| Neurotoxic effects of TDP-43 overexpression in C. elegans | Q34013543 | ||
| P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. | Q45894689 | ||
| TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. | Q45927072 | ||
| TDP-43 M311V mutation in familial amyotrophic lateral sclerosis. | Q46116652 | ||
| Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function | Q46434717 | ||
| TDP-43 mutation in familial amyotrophic lateral sclerosis | Q46625104 | ||
| The overlap of amyotrophic lateral sclerosis and frontotemporal dementia | Q46924395 | ||
| Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior | Q47071494 | ||
| TDP-43 plasma levels are higher in amyotrophic lateral sclerosis | Q47290748 | ||
| Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases | Q48095281 | ||
| A novel double mutation in FUS gene causing sporadic ALS. | Q48159660 | ||
| Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. | Q48183466 | ||
| FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis | Q48386472 | ||
| TLS-GFP cannot rescue mRNP formation near spines and spine phenotype in TLS-KO. | Q48841039 | ||
| Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments | Q49053200 | ||
| ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. | Q50738205 | ||
| Epidemiology of ALS in Italy: a 10-year prospective population-based study. | Q51129060 | ||
| Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family. | Q51427577 | ||
| High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. | Q51490423 | ||
| Motor-neuron disease: Rogue gene in the family. | Q51748856 | ||
| Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. | Q51774971 | ||
| TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. | Q51805161 | ||
| High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. | Q51815155 | ||
| Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. | Q51973117 | ||
| Prevalence and patterns of cognitive impairment in sporadic ALS. | Q51989393 | ||
| Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. | Q52620592 | ||
| Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies. | Q52710311 | ||
| Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS | Q53176386 | ||
| Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. | Q54416684 | ||
| A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report. | Q54420399 | ||
| TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation. | Q54765254 | ||
| Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: Specificity, sensitivity, and a possible prognostic value | Q56771899 | ||
| The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS | Q57244928 | ||
| Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS | Q57970487 | ||
| SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience | Q58269704 | ||
| Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis | Q58451939 | ||
| Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis | Q59314940 | ||
| FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis | Q59654700 | ||
| TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis | Q59654731 | ||
| SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS | Q59697068 | ||
| Progranulin locus deletion in frontotemporal dementia | Q59698065 | ||
| Mutations of FUS gene in sporadic amyotrophic lateral sclerosis | Q60182018 | ||
| A novelTARDBPinsertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis | Q63436491 | ||
| Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. | Q64998082 | ||
| Rapid voice tremor, or "flutter," in amyotrophic lateral sclerosis | Q68163905 | ||
| Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis | Q79804616 | ||
| Progranulin null mutations in both sporadic and familial frontotemporal dementia | Q80162804 | ||
| hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing | Q81331544 | ||
| FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population | Q82723983 | ||
| Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury | Q82791141 | ||
| ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. | Q34068067 | ||
| De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis | Q34070072 | ||
| Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations | Q34099212 | ||
| Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia | Q34125553 | ||
| Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. | Q34136342 | ||
| Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA. | Q34232143 | ||
| The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. | Q34263380 | ||
| Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis | Q34265540 | ||
| A de novo missense mutation of the FUS gene in a "true" sporadic ALS case | Q34274164 | ||
| Roles of ataxin-2 in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS) | Q34304833 | ||
| Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules | Q34308339 | ||
| LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach | Q34428789 | ||
| Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice | Q34664325 | ||
| A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. | Q34882752 | ||
| Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. | Q34913669 | ||
| Current hypotheses for the underlying biology of amyotrophic lateral sclerosis | Q34936518 | ||
| Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. | Q34982074 | ||
| TDP-43 is recruited to stress granules in conditions of oxidative insult. | Q35003958 | ||
| Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis | Q35089543 | ||
| Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia | Q35171397 | ||
| A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD | Q35332219 | ||
| Exome sequencing identifies FUS mutations as a cause of essential tremor | Q36152927 | ||
| Mutations in FUS cause FALS and SALS in French and French Canadian populations | Q36292149 | ||
| FUS-SMN protein interactions link the motor neuron diseases ALS and SMA | Q36354418 | ||
| Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene | Q36441637 | ||
| Mutation in the tau gene in familial multiple system tauopathy with presenile dementia | Q36507684 | ||
| TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis | Q36536399 | ||
| Failure of protein quality control in amyotrophic lateral sclerosis | Q36550528 | ||
| Molecular biology of amyotrophic lateral sclerosis: insights from genetics | Q36573336 | ||
| A century-old debate on protein aggregation and neurodegeneration enters the clinic | Q36628151 | ||
| How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein? | Q36701609 | ||
| Genetic analysis of the FUS/TLS gene in essential tremor | Q36888348 | ||
| Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. | Q36991962 | ||
| Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? | Q37030015 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | amyotrophic lateral sclerosis | Q206901 |
| P304 | page(s) | 812-826 | |
| P577 | publication date | 2013-04-29 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update | |
| P478 | volume | 34 |
| Q64095142 | A context-based ABC model for literature-based discovery |
| Q35268719 | A fruitful endeavor: modeling ALS in the fruit fly |
| Q92187628 | ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now? |
| Q30849444 | ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation |
| Q60908602 | ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles |
| Q35019375 | Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets? |
| Q34846816 | Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis |
| Q38431759 | Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era. |
| Q41447031 | Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese |
| Q39370811 | Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72. |
| Q50350613 | Biology and Pathobiology of TDP-43 and Emergent Therapeutic Strategies. |
| Q33628110 | CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs. |
| Q26863439 | Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis |
| Q36019592 | Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain. |
| Q36941969 | Defining the spectrum of frontotemporal dementias associated with TARDBP mutations |
| Q42114854 | Development of a mouse monoclonal antibody for the detection of asymmetric dimethylarginine of Translocated in LipoSarcoma/FUsed in Sarcoma and its application in analyzing methylated TLS. |
| Q90591149 | Development of disease-modifying drugs for frontotemporal dementia spectrum disorders |
| Q37098891 | Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates |
| Q61798717 | Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis |
| Q91774051 | Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities |
| Q88532129 | Dynamic duo - FMRP and TDP-43: Regulating common targets, causing different diseases |
| Q93263787 | Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant |
| Q36805034 | Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells. |
| Q39233311 | Evaluating a Gene-Environment Interaction in Amyotrophic Lateral Sclerosis: Methylmercury Exposure and Mutated SOD1. |
| Q28391199 | Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control |
| Q35115914 | Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation |
| Q28547727 | FUS Interacts with HSP60 to Promote Mitochondrial Damage |
| Q30458567 | FUS is sequestered in nuclear aggregates in ALS patient fibroblasts |
| Q26773038 | FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis |
| Q41458537 | Failure to Deliver and Translate-New Insights into RNA Dysregulation in ALS. |
| Q35196395 | Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy |
| Q38224042 | Fishing for causes and cures of motor neuron disorders |
| Q26741250 | From animal models to human disease: a genetic approach for personalized medicine in ALS |
| Q53268278 | Frontotemporal dementia. |
| Q38931273 | Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. |
| Q38260359 | Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges |
| Q51107457 | Genetics of Amyotrophic Lateral Sclerosis. |
| Q40045594 | Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan. |
| Q42261802 | HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients |
| Q41012287 | Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients |
| Q35229930 | Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies |
| Q38260614 | Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. |
| Q90359204 | Lafora disease: from genotype to phenotype |
| Q90211090 | Low Level of Expression of C-Terminally Truncated Human FUS Causes Extensive Changes in the Spinal Cord Transcriptome of Asymptomatic Transgenic Mice |
| Q26749169 | Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis |
| Q92180771 | Mice deficient in the C-terminal domain of TAR DNA-binding protein 43 develop age-dependent motor dysfunction associated with impaired Notch1-Akt signaling pathway |
| Q38151263 | Minor splicing pathway is not minor any more: implications for the pathogenesis of motor neuron diseases |
| Q26770200 | Mitochondria-associated membranes as hubs for neurodegeneration |
| Q26783672 | Modeling ALS and FTD with iPSC-derived neurons |
| Q64263070 | Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis |
| Q91970420 | Motor Neuron Susceptibility in ALS/FTD |
| Q26822886 | Motor neuron derivation from human embryonic and induced pluripotent stem cells: experimental approaches and clinical perspectives |
| Q59803732 | NEAT1 and paraspeckles in neurodegenerative diseases: A missing lnc found? |
| Q58571286 | Neurodegeneration-associated FUS is a novel regulator of circadian gene expression |
| Q37533026 | Neuromuscular Junction Impairment in Amyotrophic Lateral Sclerosis: Reassessing the Role of Acetylcholinesterase. |
| Q28552814 | Novel Neuroprotective Multicomponent Therapy for Amyotrophic Lateral Sclerosis Designed by Networked Systems |
| Q89770119 | Nuclear paraspeckles function in mediating gene regulatory and apoptotic pathways |
| Q38700722 | Old versus New Mechanisms in the Pathogenesis of ALS. |
| Q64228212 | Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis |
| Q39235670 | PINK1 and Parkin are genetic modifiers for FUS-induced neurodegeneration. |
| Q38906347 | Pathogenesis of amyotrophic lateral sclerosis |
| Q38789192 | Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins |
| Q54987233 | Protective paraspeckle hyper-assembly downstream of TDP-43 loss of function in amyotrophic lateral sclerosis. |
| Q38131750 | Proteomics strategies to identify SUMO targets and acceptor sites: a survey of RNA-binding proteins SUMOylation. |
| Q38222976 | RNA binding proteins: a common denominator of neuronal function and dysfunction |
| Q64110753 | RNA recognition motifs of disease-linked RNA-binding proteins contribute to amyloid formation |
| Q39227676 | RNA-binding proteins with prion-like domains in health and disease |
| Q40685818 | Rapamycin alleviates pathogenesis of a new Drosophila model of ALS-TDP. |
| Q30559680 | Recruitment into stress granules prevents irreversible aggregation of FUS protein mislocalized to the cytoplasm |
| Q35844758 | Regulation of human MAPT gene expression |
| Q91946029 | Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases |
| Q33755664 | Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS). |
| Q38850066 | Simple animal models for amyotrophic lateral sclerosis drug discovery |
| Q38601956 | Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model |
| Q55233896 | Synaptic Failure: Focus in an Integrative View of ALS. |
| Q41762388 | TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain |
| Q46958756 | The Genetics of Monogenic Frontotemporal Dementia |
| Q92856453 | The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications |
| Q52967015 | The distinct genetic pattern of ALS in Turkey and novel mutations. |
| Q48331920 | The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. |
| Q35168278 | UBE2E ubiquitin-conjugating enzymes and ubiquitin isopeptidase Y regulate TDP-43 protein ubiquitination |
| Q46241488 | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| Q55329393 | mTh1 driven expression of hTDP-43 results in typical ALS/FTLD neuropathological symptoms. |
Search more.