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Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2017, Volume 13, Issue 7, pp. P1444 - P1444
Journal Article
Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6125, pp. 1335 - 1338
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 2010, Volume 65, Issue 3, pp. 373 - 384
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 01/2018, Volume 10, Issue 1, pp. 4 - 6
The recent discovery of a pathogenic expansion of a (GGGGCC)n repeat in the C9orf72 gene in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia... 
MEDICINE, RESEARCH & EXPERIMENTAL | REPEAT EXPANSIONS | DISEASES | Proteins - genetics | G-Quadruplexes | C9orf72 Protein | Amyotrophic Lateral Sclerosis | Humans | RNA | Analysis | Dementia disorders | Amyotrophic lateral sclerosis | Cell survival | Ribonucleic acid--RNA | Frontotemporal dementia | Toxicity | Pharmacology & Drug Discovery | Neuroscience | Views
Journal Article
The EMBO Journal, ISSN 0261-4189, 08/2010, Volume 29, Issue 16, pp. 2841 - 2857
Journal Article
Journal Article
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 10/2014, Volume 128, Issue 4, pp. 485 - 503
Hexanucleotide repeat expansion in C9orf72 is the most common pathogenic mutation in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar... 
Pathology | Neurosciences | Medicine & Public Health | Neurodegeneration | FTLD | Proteomics | ALS | Unc119 | C9orf72 | FRONTOTEMPORAL DEMENTIA | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | IDENTIFICATION | TRANSLATION | NEUROSCIENCES | CLINICAL NEUROLOGY | ANTISENSE TRANSCRIPTS | EXPANSION | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | CELL-LINE | RNA FOCI | Frontotemporal Lobar Degeneration - pathology | RNA-Binding Proteins - genetics | DNA Repeat Expansion - physiology | DNA Repeat Expansion - genetics | Microtubule-Associated Proteins - metabolism | Humans | Ubiquitin - metabolism | Green Fluorescent Proteins - genetics | Cerebral Cortex - cytology | DNA-Binding Proteins - metabolism | Caspases - metabolism | Transfection | Frontotemporal Lobar Degeneration - metabolism | HEK293 Cells | Dipeptides - metabolism | Green Fluorescent Proteins - metabolism | Gene Expression Regulation - genetics | Amyotrophic Lateral Sclerosis - genetics | Dipeptides - pharmacology | RNA-Binding Proteins - chemistry | Cells, Cultured | Rats | Gene Expression Regulation - drug effects | Amyotrophic Lateral Sclerosis - pathology | Animals | Amyotrophic Lateral Sclerosis - metabolism | Frontotemporal Lobar Degeneration - genetics | Adaptor Proteins, Signal Transducing - metabolism | Dipeptides - genetics | RNA-Binding Proteins - metabolism | Ubiquitin | Amyotrophic lateral sclerosis | Glycine | Neurons | Analysis | Index Medicus | Original Paper
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2013, Volume 125, Issue 3, pp. 413 - 423
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial... 
Pathology | hnRNP A3 | Neurosciences | Medicine & Public Health | Neurodegeneration | TDP-43 | FTLD | ALS | C9orf72 | DEMENTIA | PROTEIN | EXPANSIONS | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | NEUROSCIENCES | MASS-SPECTROMETRY | CLINICAL NEUROLOGY | GENE | HEXANUCLEOTIDE REPEAT | Frontotemporal Lobar Degeneration - pathology | Gene Expression Regulation - genetics | Sequestosome-1 Protein | Amyotrophic Lateral Sclerosis - genetics | Humans | Repetitive Sequences, Nucleic Acid - physiology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | Hippocampus - pathology | Chromatography, High Pressure Liquid | Mutation - genetics | DNA-Binding Proteins - metabolism | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Transfection | Frontotemporal Lobar Degeneration - metabolism | Mass Spectrometry | Amyotrophic Lateral Sclerosis - metabolism | HEK293 Cells | Inclusion Bodies - pathology | C9orf72 Protein | Frontotemporal Lobar Degeneration - genetics | Adaptor Proteins, Signal Transducing - metabolism | Inclusion Bodies - metabolism | RNA, Small Interfering - metabolism | Immunohistochemistry | Brain | RNA | Analysis | Physiological aspects | Amyotrophic lateral sclerosis | Genetic aspects | Binding proteins | Genetic translation | Protein binding | Index Medicus | Translation | Toxicity | Regulatory sequences | Metabolism | RNA-binding protein | Autopsy | Inclusion bodies | Genetic analysis | Mutation | Frontotemporal dementia | Hippocampus
Journal Article