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Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 56 - 61
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 723 - 735
Journal Article
Nature, ISSN 0028-0836, 09/2015, Volume 525, Issue 7567, pp. 129 - 133
The GGGGCC (G(4)C(2)) repeat expansion in a noncoding region of C9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral... 
C9FTD/ALS | MULTIDISCIPLINARY SCIENCES | NUCLEAR-PORE COMPLEX | FRONTOTEMPORAL DEMENTIA | DISEASE | MESSENGER-RNA EXPORT | AMYOTROPHIC-LATERAL-SCLEROSIS | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | STEM-CELL MODELS | Protein Biosynthesis | Salivary Glands - pathology | DNA Repeat Expansion - genetics | Humans | Male | Neurons - cytology | Drosophila melanogaster - genetics | Salivary Glands - cytology | RNA - genetics | Drosophila melanogaster - metabolism | RNA Transport - genetics | Female | C9orf72 Protein | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Muscles - metabolism | Active Transport, Cell Nucleus - genetics | Frontotemporal Dementia - pathology | Induced Pluripotent Stem Cells - metabolism | RNA - metabolism | Eye - metabolism | Frontotemporal Dementia - genetics | Animals, Genetically Modified | Amyotrophic Lateral Sclerosis - genetics | Nuclear Pore - pathology | Drosophila melanogaster - cytology | Nuclear Pore - genetics | Nuclear Pore - metabolism | Open Reading Frames - genetics | Proteins - genetics | Amyotrophic Lateral Sclerosis - pathology | Phenotype | Animals | HeLa Cells | Salivary Glands - metabolism | Muscles - cytology | Trinucleotide repeats | Genetic research | Genetic aspects | Research | Biological transport | Cytoplasm | Proteins | Insects | Toxicity | Pathogenesis | Amyotrophic lateral sclerosis | Chromosomes | Dementia | RAN translation | genetic screen | repeat expansion | Drosophila | DPR | FTD | ALS | C9ORF72 | nuclear pore
Journal Article
Science, ISSN 0036-8075, 09/2014, Volume 345, Issue 6201, pp. 1192 - 1194
Journal Article
2018, ISBN 0444632336, Volume 147
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human... 
myotonic dystrophy | repeat instability | expanded repeats | trinucleotide | anticipation | polyglutamine diseases | C9ORF72 | spinocerebellar ataxia | Nervous System Diseases - genetics | Repetitive Sequences, Nucleic Acid - genetics | Humans | Trinucleotide | Spinocerebellar ataxia
Book Chapter
Neuron, ISSN 0896-6273, 05/2016, Volume 90, Issue 3, pp. 535 - 550
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 7, pp. 2040 - 2051
Journal Article