标题
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia
作者
关键词
-
出版物
CURRENT OPINION IN NEUROLOGY
Volume 27, Issue 5, Pages 515-523
出版商
Ovid Technologies (Wolters Kluwer Health)
发表日期
2014-08-14
DOI
10.1097/wco.0000000000000130
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
- (2014) Malcolm Proudfoot et al. ACTA NEUROPATHOLOGICA
- Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
- (2014) Johnathan Cooper-Knock et al. BRAIN
- Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders
- (2014) John Douglas Cleary et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
- (2014) Manal A. Farg et al. HUMAN MOLECULAR GENETICS
- C9orf72 nucleotide repeat structures initiate molecular cascades of disease
- (2014) Aaron R. Haeusler et al. NATURE
- Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
- (2014) Adrian J. Waite et al. NEUROBIOLOGY OF AGING
- Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
- (2014) Sabina Vatovec et al. NEUROBIOLOGY OF AGING
- Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
- (2013) Ian R. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
- (2013) Pietro Fratta et al. ACTA NEUROPATHOLOGICA
- C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
- (2013) Sarah Mizielinska et al. ACTA NEUROPATHOLOGICA
- Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
- (2013) Kohji Mori et al. ACTA NEUROPATHOLOGICA
- Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
- (2013) Tania F. Gendron et al. ACTA NEUROPATHOLOGICA
- Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
- (2013) Paul Hagerman ACTA NEUROPATHOLOGICA
- hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
- (2013) Kohji Mori et al. ACTA NEUROPATHOLOGICA
- Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
- (2013) Veronique V. Belzil et al. ACTA NEUROPATHOLOGICA
- Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
- (2013) Sandra Almeida et al. ACTA NEUROPATHOLOGICA
- Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
- (2013) Zhengrui Xi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
- (2013) Timothy P. Levine et al. BIOINFORMATICS
- The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
- (2013) Kaalak Reddy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins
- (2013) Bita Zamiri et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study
- (2013) Timothy M Miller et al. LANCET NEUROLOGY
- Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
- (2013) Marka van Blitterswijk et al. LANCET NEUROLOGY
- The role of autophagy in neurodegenerative disease
- (2013) Ralph A Nixon NATURE MEDICINE
- The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
- (2013) Naoki Suzuki et al. NATURE NEUROSCIENCE
- RANTing about C9orf72
- (2013) Tammaryn Lashley et al. NEURON
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
- (2013) Peter E.A. Ash et al. NEURON
- RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
- (2013) Christopher J. Donnelly et al. NEURON
- Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
- (2013) Martine Therrien et al. PLoS One
- Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS
- (2013) K. Meyer et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
- (2013) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
- (2013) Z. Xu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
- (2013) C. Lagier-Tourenne et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
- (2013) D. Sareen et al. Science Translational Medicine
- Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
- (2013) Youn-Bok Lee et al. Cell Reports
- New perspectives on the biology of fragile X syndrome
- (2012) Tao Wang et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity
- (2012) Mónica Bañez-Coronel et al. PLoS Genetics
- 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) Safa Al-Sarraj et al. ACTA NEUROPATHOLOGICA
- The application of DNA and RNA G-quadruplexes to therapeutic medicines
- (2011) Gavin W. Collie et al. CHEMICAL SOCIETY REVIEWS
- G–quadruplex RNA structure as a signal for neurite mRNA targeting
- (2011) Murugan Subramanian et al. EMBO REPORTS
- Cellular toxicity of expanded RNA repeats: focus on RNA foci
- (2011) Marzena Wojciechowska et al. HUMAN MOLECULAR GENETICS
- A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
- (2011) Daniel W. Chung et al. HUMAN MOLECULAR GENETICS
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
- (2011) Ilse Gijselinck et al. LANCET NEUROLOGY
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- Research Progress of RNA Quadruplex
- (2011) Xiaohui Ji et al. Nucleic Acid Therapeutics
- Triplet Repeat–Derived siRNAs Enhance RNA–Mediated Toxicity in a Drosophila Model for Myotonic Dystrophy
- (2011) Zhenming Yu et al. PLoS Genetics
- AMPA receptor-mediated neuronal death in sporadic ALS
- (2010) Shin Kwak et al. NEUROPATHOLOGY
- Non-ATG-initiated translation directed by microsatellite expansions
- (2010) T. Zu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- RNA and Disease
- (2009) Thomas A. Cooper et al. CELL
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