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Huaiyu Mi et al.
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Philippe Corcia et al.
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Kyung-Ha Lee et al.
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Yuanjing Liu et al.
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J. G. O'Rourke et al.
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Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
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Janet Ugolino et al.
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Johnathan Cooper-Knock et al.
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Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers
Tania F. Gendron et al.
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Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2015)
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
Zhouteng Tao et al.
HUMAN MOLECULAR GENETICS (2015)
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Jonathan D. Rohrer et al.
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Brian D. Freibaum et al.
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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
Mercedes Prudencio et al.
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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
Owen M. Peters et al.
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Jacqueline G. O'Rourke et al.
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Jeannie Chew et al.
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Yong-Jie Zhang et al.
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Stephanie May et al.
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Xinmei Wen et al.
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Sarah Mizielinska et al.
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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
Ilmin Kwon et al.
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Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions in C9orf72
Jill S. Goldman et al.
JAMA NEUROLOGY (2014)
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Michael I. Love et al.
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Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
Andrew King et al.
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hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
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RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
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Youn-Bok Lee et al.
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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
Ilse Gijselinck et al.
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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
Melissa E. Murray et al.
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
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Alan E. Renton et al.
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Mechanisms Underlying Inflammation in Neurodegeneration
Christopher K. Glass et al.
CELL (2010)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Da Wei Huang et al.
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Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
Da Wei Huang et al.
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Unraveling the mechanisms involved in motor neuron degeneration in ALS
LI Bruijn et al.
ANNUAL REVIEW OF NEUROSCIENCE (2004)
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