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Acta neuropathologica, ISSN 1432-0533, 2017, Volume 135, Issue 3, pp. 459 - 474
Hexanucleotide repeat expansions in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (C9 ALS... 
Pathology | Neurosciences | Hexanucleotide repeat expansions | Medicine & Public Health | Amyotrophic lateral sclerosis | Poly-GR | Sense strand | Arginine-containing dipeptide repeat proteins | Nuclear pore complex and nucleocytoplasmic transport | C9orf72 | Dipeptide repeat proteins | Antisense strand | NUCLEAR-RNA FOCI | CYTOPLASMIC INCLUSIONS | BAC TRANSGENIC MICE | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | NEUROSCIENCES | CLINICAL NEUROLOGY | CLINICOPATHOLOGICAL CORRELATIONS | ANTISENSE TRANSCRIPTS | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | NUCLEOCYTOPLASMIC TRANSPORT | MOTOR DEFICITS | C9orf72 Protein - genetics | Dendrites - pathology | Spinal Cord - metabolism | Neuroglia - pathology | Humans | Middle Aged | Cytoplasm - metabolism | Male | Cytoplasm - pathology | Nerve Degeneration - metabolism | Brain - metabolism | DNA-Binding Proteins - metabolism | DNA Repeat Expansion | Cell Nucleus - metabolism | Cell Nucleus - pathology | Spinal Cord - pathology | Aged, 80 and over | Female | C9orf72 Protein - metabolism | Dipeptides - metabolism | Amyotrophic Lateral Sclerosis - genetics | Nerve Degeneration - pathology | Amyotrophic Lateral Sclerosis - pathology | Amyotrophic Lateral Sclerosis - metabolism | Brain - pathology | Neuroglia - metabolism | Aged | Proteins | Medicine, Experimental | Medical research | Comparative analysis | Cerebellum | Toxicity | Cortex (occipital) | Central nervous system | Cortex (motor) | Neuronal-glial interactions | Nuclear transport | Haploinsufficiency | Arginine | Neurodegeneration | Cortex (frontal) | Dendrites | Cytoplasm | Index Medicus | poly-GR | arginine-containing dipeptide repeat proteins | dipeptide repeat proteins | hexanucleotide repeat expansions | antisense strand | amyotrophic lateral sclerosis | nuclear pore complex and nucleocytoplasmic transport | sense strand
Journal Article
by van der Zee, Julie and Gijselinck, Ilse and Dillen, Lubina and Van Langenhove, Tim and Theuns, Jessie and Engelborghs, Sebastiaan and Philtjens, Stéphanie and Vandenbulcke, Mathieu and Sleegers, Kristel and Sieben, Anne and Bäumer, Veerle and Maes, Githa and Corsmit, Ellen and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl-Schmid, Janine and de Mendonça, Alexandre and Miltenberger-Miltenyi, Gabriel and Pereira, Sónia and Pimentel, José and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Graff, Caroline and Chiang, Huei-Hsin and Westerlund, Marie and Sanchez-Valle, Raquel and Llado, Albert and Gelpi, Ellen and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Frisoni, Giovanni and Zanetti, Orazio and Bonvicini, Cristian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Heneka, Michael T and Jessen, Frank and Matej, Radoslav and Parobkova, Eva and Kovacs, Gabor G and Ströbel, Thomas and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Danek, Adrian and Arzberger, Thomas and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Santens, Patrick and Martin, Jean-Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Van Broeckhoven, Christine and De Deyn, Peter P and Vandenbulcke, Mathieu and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Perneczky, Robert and Diehl-Schmid, Janine and Müller vom Hagen, Jennifer and Ramirez, Alfredo and Kurzwelly, Delia and Sachtleben, Carmen and Mairer, Wolfgang and de Mendonça, Alexandre and Miltenberger-Miltenyi, Gabriel and Pereira, Sónia and Firmo, Clara and Pimentel, José and Sanchez-Valle, Raquel and Llado, Albert and Antonell, Anna and Molinuevo, Jose and Gelpi, Ellen and Chiang, Huei-Hsin and Westerlund, Marie and Kinhult Ståhlbom, Anne and Thonberg, Håkan and Nennesmo, Inger and Börjesson-Hanson, Anne and Nacmias, Benedetta and Bagnoli, Silvia and Sorbi, Sandro and Bessi, Valentina and Piaceri, Irene and Santiago, Beatriz and Helena Ribeiro, Maria and Rosário Almeida, Maria and Oliveira, Catarina and Massano, João and ... and European Early-Onset Dementia EOD and European Early-Onset Dementia Consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 2, pp. 363 - 373
Journal Article
Nature (London), ISSN 1476-4687, 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 sclerosis and frontotemporal dementia(1,2... 
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
Nature (London), ISSN 1476-4687, 2014, Volume 507, Issue 7491, pp. 195 - 200
Journal Article
EMBO reports, ISSN 1469-221X, 09/2016, Volume 17, Issue 9, pp. 1314 - 1325
Journal Article
Nature genetics, ISSN 1546-1718, 2018, Volume 50, Issue 4, pp. 603 - 612
Journal Article