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One or more keywords matched the following items that are connected to Landers, John
Item TypeName
Academic Article Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Academic Article Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Academic Article A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Academic Article Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Academic Article DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.
Academic Article Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Academic Article Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.
Concept Mutation
Concept Point Mutation
Concept Mutation, Missense
Academic Article The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Academic Article Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Academic Article The distinct genetic pattern of ALS in Turkey and novel mutations.
Academic Article TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
Academic Article Structural basis for mutation-induced destabilization of profilin 1 in ALS.
Academic Article Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Academic Article CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Academic Article NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Academic Article Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Academic Article Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population.
Academic Article Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.
Academic Article ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation.
Academic Article A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.
Academic Article Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
Academic Article Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Academic Article Reconsidering the causality of TIA1 mutations in ALS.
Academic Article ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Academic Article Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Academic Article The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Academic Article Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.
Academic Article Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.
Academic Article Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Academic Article Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Academic Article The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing.
Academic Article Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.
Academic Article CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Academic Article Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Academic Article Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Academic Article Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway.
Academic Article Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Academic Article Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Concept Loss of Function Mutation
Concept Gain of Function Mutation
Concept Mutation Rate
Academic Article Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Academic Article ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Academic Article The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Academic Article Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Academic Article Clinical testing panels for ALS: global distribution, consistency, and challenges.
Academic Article Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Search Criteria
  • Mutation