articleTop 1% cited
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Acta Neuropathologica · 2013 · Vol. 126(6) · pp. 881–893
Kohji Mori✉(Ludwig-Maximilians-Universität München)Thomas Arzberger(German Center for Neurodegenerative Diseases)Friedrich A. Grässer(Saarland University)Ilse Gijselinck(University of Antwerp)Stephanie May(German Center for Neurodegenerative Diseases)Kristin Rentzsch(German Center for Neurodegenerative Diseases)Shih Ming Weng(German Center for Neurodegenerative Diseases)Martin H. Schludi(German Center for Neurodegenerative Diseases)Julie van der Zee(VIB-UAntwerp Center for Molecular Neurology)Marc Cruts(University of Antwerp)Christine Van Broeckhoven(University of Antwerp)Elisabeth Kremmer(Helmholtz Zentrum München)Hans A. Kretzschmar(Ludwig-Maximilians-Universität München)Christian Haass(Munich Cluster for Systems Neurology)Dieter Edbauer(Munich Cluster for Systems Neurology)
Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchParkinson's Disease Mechanisms and TreatmentsC9orf72Frontotemporal lobar degenerationTrinucleotide repeat expansionInclusion bodiesBiologyMolecular biologyCytoplasmic inclusionTranslation (biology)RNAGene
MeSH terms
C9orf72 ProteinAmyotrophic Lateral SclerosisBrainHumansProteinsProtein BiosynthesisDNA Repeat ExpansionFrontotemporal Lobar Degeneration
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References
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
Acta Neuropathologica · 2011 · 469 citations
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies
Acta Neuropathologica · 2009 · 601 citations
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Neuron · 2011 · 4,424 citations
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Neuron · 2011 · 4,922 citations
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