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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
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2014, Volume 10, Issue 4, pp. P201 - P202
Journal Article
Molecular Neurodegeneration, ISSN 1750-1326, 2009, Volume 4, Issue 1, pp. 13 - 13
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
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2014, Volume 127, Issue 3, pp. 359 - 376
A hexanucleotide repeat expansion within a non-coding region of the C9ORF72 gene is the most common mutation causative of frontotemporal lobar degeneration... 
Pathology | Neurosciences | Bidirectional transcription | Medicine & Public Health | Epigenetics | Expanded repeat | Repeat-associated non-ATG translation | Amyotrophic lateral sclerosis | Frontotemporal lobar degeneration | C9ORF72 | RNA foci | MYOTONIC-DYSTROPHY TYPE-1 | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | RNA-BINDING PROTEIN | PRE-MESSENGER-RNA | C9ORF72 HEXANUCLEOTIDE REPEAT | ANTISENSE TRANSCRIPTS | HUNTINGTONS-DISEASE | GGGGCC REPEAT | PATHOLOGICAL FEATURES | Frontotemporal Lobar Degeneration - pathology | Neurodegenerative Diseases - pathology | Spinal Cord - metabolism | Amyotrophic Lateral Sclerosis - genetics | Humans | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - metabolism | Brain - metabolism | Proteins - genetics | DNA Repeat Expansion | Amyotrophic Lateral Sclerosis - pathology | Animals | Proteins - metabolism | Frontotemporal Lobar Degeneration - metabolism | Spinal Cord - pathology | Amyotrophic Lateral Sclerosis - metabolism | Brain - pathology | C9orf72 Protein | Frontotemporal Lobar Degeneration - genetics | RNA - metabolism | Epigenetic inheritance | RNA | Binding proteins | Genetic translation | Protein binding | Index Medicus | repeat-associated non-ATG translation | expanded repeat | amyotrophic lateral sclerosis | bidirectional transcription | epigenetics | frontotemporal lobar degeneration
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 06/2018, Volume 14, Issue 6, pp. 321 - 323
An incomplete grasp of how the G(4)C(2) repeat expansion in C9orf72 leads to amyotrophic lateral sclerosis and frontotemporal dementia has hindered progress in... 
REPEAT EXPANSION | PROTEINS | CLINICAL NEUROLOGY | NUCLEOCYTOPLASMIC TRANSPORT | Care and treatment | Genetic aspects | Research | Sclerosis | Dementia | CRISPR
Journal Article
Molecular Neurodegeneration, ISSN 1750-1326, 2012, Volume 7, Issue Suppl 1, pp. L19 - L19
  Conclusion While overexpression of hTDP-43 in wild-type TDP-43 and TDP-43M337V mouse models produces similar phenotypes, our results suggest that... 
Journal Article