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C9orf72
Structural Studies of C9orf72-SMCR8-WDR41 Protein Complex
The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome
C9orf72 Testing in a Diagnostic Laboratory Using the Asuragen Amplidex® PCR/CE C9orf72 Kit
Genetic Testing and Genetic Counseling for Amyotrophic Lateral Sclerosis: an Update for Clinicians
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9P21-Linked ALS- FTD, Neuron (2011), Doi:10.1016/J.Neuron.2011.09.010 Neuron Article
Disrupted Neuronal Trafficking in Amyotrophic Lateral Sclerosis
Structural Basis for VPS34 Kinase Activation by Rab1 and Rab5 on Membranes
C9orf72 Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Investigating Repeat Pathology in Cell Culture Models and Human Post-Mortem Brain
ADAR2 Mislocalization and Widespread RNA Editing Aberrations in C9orf72‑Mediated ALS/FTD
C9orf72 Binds SMCR8, Localizes to Lysosomes and Regulates Mtorc1 Signaling
Viral Delivery of C9orf72 Hexanucleotide Repeat Expansions
C9orf72-Associated SMCR8 Protein Binds in the Ubiquitin Pathway and with Proteins Linked with Neurological Disease John L
C9orf72 Repeat Size Correlates with Onset Age of Disease, DNA Methylation and Transcriptional Downregulation of the Promoter
Glial Cell Dysfunction in C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Sequestosome-1 (SQSTM1) Sequence Variants in ALS Cases in the UK: Prevalence and Coexistence of SQSTM1 Mutations in ALS Kindred with PDB
A C. Elegans Model of C9orf72-Associated ALS/FTD Uncovers a Conserved Role
C9orf72, a Protein Associated with Amyotrophic Lateral Sclerosis (ALS) Is a Guanine Nucleotide Exchange Factor
VIEW Treatment Implications of C9ORF72 Sharon J Sha* and Adam Boxer
Top View
C9ORF72 and UBQLN2 Are Genetic Causes of ALS in New Zealand: a Genetic and Pathological Study Using Banked Human Brain Tissue
Mutant UBQLN2 Promotes Toxicity by Modulating Intrinsic Self-Assembly
Genetic and Epigenetic Modifiers of C9orf72 Expression in Neurodegenerative Disease
The C9ORF72 GGGGCC Expansion Forms RNA G-Quadruplex Inclusions
Implementation of an Antibody Characterization Procedure
C9ORF72 Hexanucleotide Repeat Expansion Frequency in Patients with Paget’S Disease of Bone
The Multistep Hypothesis of ALS Revisited the Role of Genetic Mutations
A Comparative Bioinformatic Analysis of C9orf72
Patient Stem Cells Give Clues To
Rab Gtpases: Switching to Human Diseases
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes
Modelling C9orf72-Related Amyotrophic Lateral Sclerosis in Zebrafish
Cryo-EM Structure of C9ORF72-SMCR8-WDR41 Reveals
Implications of Selective Autophagy Dysfunction for ALS Pathology
RNA-Binding Motif Protein 45 (Rbm45)/Developmentally Regulated RNA- Binding Protein-1 (Drbp1): Association with Neurodegenerative Disorders
Cryo-EM Structure of C9ORF72–SMCR8–WDR41 Reveals the Role As a GAP for Rab8a and Rab11a
Multiplex Image-Based Autophagy Rnai Screening Identifies SMCR8
C9orf72 and Triplet Repeat Disorder Rnas: G-Quadruplex Formation, Binding to PRC2 and Implications for Disease Mechanisms
Novel Antibodies Reveal Presynaptic Localization of C9orf72 Protein and Reduced Protein Levels in C9orf72 Mutation Carriers Petra Frick1, Chantal Sellier2, Ian R
The Wide Genetic Landscape of Clinical Frontotemporal Dementia: Systematic Combined Sequencing of 121 Consecutive Subjects
Mutant Genes in Amyotrophic Lateral Sclerosis Associated with Autophagy
Misfolded SOD1 Inclusions in Patients with Mutations in C9orf72 and Other
Disease Mechanisms of C9ORF72 Repeat Expansions
Key Role of UBQLN2 in Pathogenesis of Amyotrophic Lateral Sclerosis And
Repeat Length Increases Disease Penetrance and Severity in C9orf72 ALS/FTD
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
Development of a Cellular Model for C9ORF72-Related Amyotrophic Lateral Sclerosis
C9orf72 Gene Chromosome 9 Open Reading Frame 72
Genetic Screening in Sporadic ALS And
Structural Basis for the ARF GAP Activity and Specificity Of
Correlation Between C9ORF72 Mutation and Neurodegenerative
Regulation of C9ORF72 FTD/ALS Pathology by Ubiquilin-2
Microglia and C9orf72 in Neuroinflammation and ALS and Frontotemporal Dementia
Global Proteomics of Ubqln2-Based Murine Models of ALS
Researchers Discover Gene Mutation on Chromosome 9 That Causes FTD and ALS Ten-Year Hunt to Identify the Gene Led One of the Teams That Made This of Familial ALS
Amyotrophic Lateral Sclerosis Genes in Drosophila Melanogaster
Emerging Genetic Complexity and Rare Genetic Variants In
C9orf72 Proteins Regulate Autophagy and Undergo Autophagosomal Or Proteasomal Degradation in a Cell Type-Dependent Manner
Genetic Analysis of the SOD1 and C9ORF72 Genes in Hungarian Patients with Amyotrophic Lateral Sclerosis
Transcription Elongation Factor AFF2/FMR2 Regulates Expression of Expanded GGGGCC Repeat-Containing C9ORF72 Allele in ALS/FTD
Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD
Updates on the C9orf72 BAC Transgenic Mice Mordes, D.A