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Acta neuropathologica, ISSN 1432-0533, 2018, Volume 135, Issue 3, pp. 445 - 457
A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia.... 
Pathology | Neurosciences | Medicine & Public Health | Drosophila | FTD | ALS | Repeat expansion | C9orf72 | FRONTOTEMPORAL DEMENTIA | PATHOLOGY | NEUROSCIENCES | FOCI | CLINICAL NEUROLOGY | TRANSCRIPTS | TRANSPORT | DIPEPTIDE-REPEAT PROTEINS | EXPANSION | HEXANUCLEOTIDE REPEAT | C9ORF72 ABLATION | GGGGCC REPEAT | C9orf72 Protein - genetics | Neurons - pathology | Animals, Genetically Modified | Introns | Cytoplasm - metabolism | Male | Cytoplasm - pathology | Frontotemporal Dementia - metabolism | DNA Repeat Expansion | Animals | Cell Nucleus - metabolism | Cell Nucleus - pathology | Amyotrophic Lateral Sclerosis - metabolism | Female | C9orf72 Protein - metabolism | Neurons - metabolism | Disease Models, Animal | Frontotemporal Dementia - pathology | RNA - metabolism | Analysis | Genes | Amyotrophic lateral sclerosis | Antisense RNA | Genetic aspects | Genetic transcription | Binding proteins | Protein binding | Transcription | Nucleotide sequence | Toxicity | Proline | Glycine | Ribonucleic acid--RNA | Proteins | RNA-binding protein | Insects | Arginine | Neurodegeneration | Polyadenylation | Dementia disorders | Codons | Frontotemporal dementia | Index Medicus | Original Paper | ablation | motor deficits | mice | bac transgenic | amyotrophic-lateral-sclerosis | dipeptide-repeat proteins | hexanucleotide repeat | nucleocytoplasmic transport | dementia | binding proteins | frontotemporal | ggggcc repeat | Neurovetenskaper
Journal Article
by Chiò, Adriano and Borghero, Giuseppe and Restagno, Gabriella and Mora, Gabriele and Drepper, Carsten and Traynor, Bryan J and Sendtner, Michael and Brunetti, Maura and Ossola, Irene and Calvo, Andrea and Pugliatti, Maura and Sotgiu, Maria Alessandra and Murru, Maria Rita and Marrosu, Maria Giovanna and Marrosu, Francesco and Marinou, Kalliopi and Mandrioli, Jessica and Sola, Patrizia and Caponnetto, Claudia and Mancardi, Gianluigi and Mandich, Paola and La Bella, Vincenzo and Spataro, Rossella and Conte, Amelia and Monsurrò, Maria Rosaria and Tedeschi, Gioacchino and Pisano, Fabrizio and Bartolomei, Ilaria and Salvi, Fabrizio and Lauria Pinter, Giuseppe and Simone, Isabella and Logroscino, Giancarlo and Gambardella, Antonio and Quattrone, Aldo and Lunetta, Christian and Volanti, Paolo and Zollino, Marcella and Penco, Silvana and Battistini, Stefania and Renton, Alan E and Majounie, Elisa and Abramzon, Yevgeniya and Conforti, Francesca Luisa and Giannini, Fabio and Corbo, Massimo and Sabatelli, Mario and Moglia, Cristina and Cammarosano, Stefania and Fuda, Giuseppe and Canosa, Antonio and Gallo, Sara and Papetti, Laura and Luigetti, Marco and Lattante, Serena and Marangi, Giuseppe and Colletti, Tiziana and Ricci, Claudia and Origone, Paola and Floris, Gianluca and Cannas, Antonino and Piras, Valeria and Parish, Leslie D and Solinas, Giuliana and Ulgheri, Lucia and Ticca, Anna and Izzo, Francesco and Laiola, Anna and Trojsi, Francesca and ITALSGEN Consortium and ITALSGEN consortium and the ITALSGEN consortium
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 3, pp. 784 - 793
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 2016, Volume 92, Issue 2, pp. 383 - 391
Journal Article
Acta neuropathologica, ISSN 1432-0533, 2018, Volume 135, Issue 3, pp. 427 - 443
Journal Article
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2018, Volume 173, Issue 4, pp. 958 - 971.e17
Defects in nucleocytoplasmic transport have been identified as a key pathogenic event in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)... 
ALS | nucleocytoplasmic transport | C9ORF72 | stress granule | NUCLEAR IMPORT | PHASE-SEPARATION | RNA | DIPEPTIDE-REPEAT PROTEINS | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | CELL BIOLOGY | C9orf72 Protein - genetics | alpha Karyopherins - metabolism | beta Karyopherins - genetics | alpha Karyopherins - antagonists & inhibitors | ran GTP-Binding Protein - genetics | Membrane Glycoproteins - metabolism | Active Transport, Cell Nucleus - physiology | DNA Repeat Expansion - genetics | Humans | Middle Aged | Male | beta Karyopherins - antagonists & inhibitors | Ataxin-2 - genetics | Frontotemporal Dementia - metabolism | RNA Interference | Arsenites - toxicity | Ataxin-2 - metabolism | HEK293 Cells | Female | C9orf72 Protein - metabolism | Frontotemporal Dementia - pathology | Nuclear Pore Complex Proteins - metabolism | ran GTP-Binding Protein - metabolism | Amyotrophic Lateral Sclerosis - pathology | ran GTP-Binding Protein - antagonists & inhibitors | Sodium Compounds - toxicity | Active Transport, Cell Nucleus - drug effects | Amyotrophic Lateral Sclerosis - metabolism | alpha Karyopherins - genetics | Aged | Oxidative Stress - drug effects | beta Karyopherins - metabolism | Ataxin-2 - antagonists & inhibitors | RNA, Small Interfering - metabolism | Proteins | Medical colleges | Nervous system diseases | Neurosciences | Research institutes | Molecular biology | Dementia
Journal Article