المؤلفون: Mark T. W. Ebbert, Tanner D. Jensen, Karen Jansen-West, Jonathon P. Sens, Joseph S. Reddy, Perry G. Ridge, John S. K. Kauwe, Veronique Belzil, Luc Pregent, Minerva M. Carrasquillo, Dirk Keene, Eric Larson, Paul Crane, Yan W. Asmann, Nilufer Ertekin-Taner, Steven G. Younkin, Owen A. Ross, Rosa Rademakers, Leonard Petrucelli, John D. Fryer

المصدر: Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)

مصطلحات موضوعية: Camouflaged genes, Dark genes, Long-read sequencing, Pacific Biosciences (PacBio), Oxford Nanopore Technologies (ONT), 10x Genomics, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-019-1707-2; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/e1a9587d951a4a8790ff8810d11b99d5

المؤلفون: Neill R. Graff-Radford, Sergio Sebastian Pineda, Ronald C. Petersen, Julio Mantero, Bjorn Oskarsson, Mariely DeJesus-Hernandez, Jaimin S. Shah, Veronique V. Belzil, Melissa E. Murray, Erica Engelberg-Cook, Michael DeTure, Brent Eugene Fitzwalter, Rosa Rademakers, Bradley F. Boeve, Hyeseung Lee, Luc Pregent, Dennis W. Dickson, Mahammad E Gardashli, Shahin Mohammadi, David S. Knopman, Manolis Kellis, Cyril Pottier, Marka van Blitterswijk, Keith A. Josephs, Myriam Heiman

مصطلحات موضوعية: Endoplasmic reticulum, medicine, Frontotemporal lobar degeneration, Amyotrophic lateral sclerosis, Primary motor cortex, Biology, medicine.disease, Prefrontal cortex, Subcellular localization, Transcription factor, Neuroscience, Synaptic vesicle cycle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a3a52304aac71720fc15a8376c6619d
https://doi.org/10.1101/2021.07.07.451374

المؤلفون: Kevin B. Boylan, Mark T. W. Ebbert, Pamela Desaro, Rebecca B. Katzman, Veronique V. Belzil, Hu Li, Luc Pregent, Carla Palmucci, Rebecca J Lank, Dennis W. Dickson, Christian A. Ross, Tamas Ordog, Cheng Zhang, Edroaldo Lummertz da Rocha, Karen Jansen-West, Amelia Robertson, Yuping Song, Ana M. Caputo, Rosa Rademakers

المصدر: Acta neuropathologica

مصطلحات موضوعية: 0301 basic medicine, Biology, Article, Pathology and Forensic Medicine, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, C9orf72, Transcription (biology), Cerebellum, medicine, Humans, Epigenetics, Amyotrophic lateral sclerosis, Gene, Genetics, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Exons, DNA Methylation, medicine.disease, Frontal Lobe, 030104 developmental biology, alpha 1-Antitrypsin, DNA methylation, Human medicine, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b5a1cc2f9c5bf3ef3087f956fc0822
https://doi.org/10.1007/s00401-017-1760-4

المؤلفون: Jonathon P. Sens, Owen A. Ross, Joseph S. Reddy, John D. Fryer, Perry G. Ridge, Steven G. Younkin, Eric C. Larson, Rosa Rademakers, John S. K. Kauwe, Paul K. Crane, Yan W. Asmann, Minerva M. Carrasquillo, Tanner D. Jensen, Leonard Petrucelli, Veronique V. Belzil, Mark T. W. Ebbert, Karen Jansen-West, Dirk C. Keene, Luc Pregent, Nilufer Ertekin-Taner

مصطلحات موضوعية: Disease gene, Exon, Genomics, Human genome, Computational biology, Nanopore sequencing, Disease, Biology, Gene, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93dc449498e84c3344ef022768ed7735
https://doi.org/10.1101/514497

المؤلفون: Joseph S. Reddy, Paul K. Crane, Steven G. Younkin, Nilufer Ertekin-Taner, Minerva M. Carrasquillo, John D. Fryer, Eric C. Larson, Luc Pregent, Jonathon P. Sens, Veronique V. Belzil, Dirk C. Keene, Karen Jansen-West, Tanner D. Jensen, Perry G. Ridge, Rosa Rademakers, John S. K. Kauwe, Leonard Petrucelli, Mark T. W. Ebbert, Yan W. Asmann, Owen A. Ross

المصدر: Genome biology
Genome Biology, Vol 20, Iss 1, Pp 1-23 (2019)
Genome Biology

مصطلحات موضوعية: Oxford Nanopore Technologies (ONT), lcsh:QH426-470, Pacific Biosciences (PacBio), Genomics, Computational biology, Biology, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Humans, Genetic Predisposition to Disease, Long-read sequencing, Gene, CR1, lcsh:QH301-705.5, Illumina dye sequencing, 030304 developmental biology, Dark genes, 0303 health sciences, Genome, Human, Research, 10x Genomics, Camouflaged genes, Alzheimer’s Disease Sequencing Project (ADSP), Human genetics, 3. Good health, lcsh:Genetics, lcsh:Biology (General), Mutation, Human genome, Nanopore sequencing, Human medicine, Engineering sciences. Technology, 030217 neurology & neurosurgery, APOE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e332bb1f3f585accd46dc486d305cff3

المؤلفون: Timothy M. Miller, Jon B. Toledo, Jennifer Farren, Jeffrey D. Rothstein, John Q. Trojanowski, Luc Pregent, Michael G. Heckman, Alessandro Prelle, Aliesha D. O’Raw, Beth K. Rush, Bryan J. Traynor, Laura Braun, Matthew D. Disney, Yari Carlomagno, Veronique V. Belzil, Antonia Ratti, Lilia J. Tabassian, Monica Castanedes-Casey, Dennis W. Dickson, Michael Tierney, John C. van Swieten, Adam L. Boxer, Jeannie Chew, Lauren Elman, Murray Grossman, Emilie A. Perkerson, Mercedes Prudencio, Ana M. Caputo, Frank Rigo, Lillian M. Daughrity, Casey Cook, Otto Pedraza, James D. Berry, David Lacomis, Christina Fournier, Jennifer Jockel-Balsarotti, Leonard Petrucelli, Giovanna Antognetti, Marka van Blitterswijk, Lindsey R. Hayes, Robert H. Brown, Joanne Wuu, Kevin B. Boylan, Jimei Tong, Edythe Wiggs, Amelia Robertson, Linda Rousseau, Karen Jansen-West, Mary Kay Floeter, Yuping Song, John D. Fryer, Tania D Gendron, Robert Bowser, Barbara Poletti, Jennifer D. McBride, Shafeeq Ladha, Federica Solca, Alexander McCampbell, Leo McCluskey, Bruce L. Miller, Weixing Yang, Rosa Rademakers, Virginia Phillips, Chris W. Lee, Mei Yue, Denitza Raitcheva, Carla Palmucci, Jonathan D. Glass, Nancy N. Diehl, Vincenzo Silani, Jeannette N. Stankowski, Pamela Desaro, Cinzia Tiloca, Claudia Morelli, Abhishek Datta, William T. Hu, Yong Jie Zhang, Michael Benatar, Christine Ambrose

المساهمون: Neurology

المصدر: Science Translational Medicine, 9(383):eaai7866. American Association for the Advancement of Science
Science translational medicine, vol 9, iss 383
Science translational medicine

مصطلحات موضوعية: 0301 basic medicine, Oligonucleotides, Neurodegenerative, medicine.disease_cause, Medical and Health Sciences, Mice, 0302 clinical medicine, C9orf72, Leukocytes, Longitudinal Studies, Amyotrophic lateral sclerosis, Dinucleotide Repeats, Neurons, Mutation, Brain, General Medicine, Middle Aged, Biological Sciences, Prognosis, Editorial, Neurological, Adult, Mononuclear, Induced Pluripotent Stem Cells, Clinical Trials and Supportive Activities, Peripheral blood mononuclear cell, Article, Cell Line, 03 medical and health sciences, Rare Diseases, Clinical Research, medicine, Extracellular, Acquired Cognitive Impairment, Genetics, Animals, Humans, Antisense, Biology, Aged, C9orf72 Protein, Oligonucleotide, business.industry, Amyotrophic Lateral Sclerosis, Neurosciences, RNA, Oligonucleotides, Antisense, medicine.disease, Molecular biology, Brain Disorders, 030104 developmental biology, Cancer research, Leukocytes, Mononuclear, Dementia, Human medicine, ALS, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476c09df1772869d16b8d12d922e0b01
https://doi.org/10.1126/scitranslmed.aai7866

المؤلفون: Luc Pregent, Karen Jansen-West, Yanan Feng, Aliesha Garrett, Casey Cook, Neill R. Graff-Radford, Nicholas J. Kramer, Joseph W. Paul, Tania F. Gendron, Ronald C. Petersen, Jeannie Chew, Mercedes Prudencio, Marka van Blitterswijk, Nancy M. Bonini, Kevin B. Boylan, David S. Knopman, Fen-Biao Gao, Rosa Rademakers, Stanley N. Cohen, Bradley F. Boeve, Christopher D. Link, Lilia J. Tabassian, Lindsey D. Goodman, Sandra Almeida, Yari Carlomagno, Dennis W. Dickson, Ning Deng, Veronique V. Belzil, Leonard Petrucelli, Yong Jie Zhang, Joseph E. Parisi, Tzu Hao Cheng, Keith A. Josephs, Julien Couthouis, Lillian M. Daughrity, Aaron D. Gitler

المصدر: Science

مصطلحات موضوعية: 0301 basic medicine, Saccharomyces cerevisiae Proteins, Transcription, Genetic, Biology, Article, 03 medical and health sciences, Transcription (biology), Sense (molecular biology), Gene Knockdown Techniques, Animals, Humans, RNA, Small Interfering, Caenorhabditis elegans, Cells, Cultured, Genetics, Gene knockdown, DNA Repeat Expansion, Multidisciplinary, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Nuclear Proteins, Proteins, RNA, Dipeptides, Antisense RNA, Cell biology, Repressor Proteins, Disease Models, Animal, Drosophila melanogaster, 030104 developmental biology, Gene Expression Regulation, Frontotemporal Dementia, Protein Biosynthesis, Transcriptional Elongation Factors, Engineering sciences. Technology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c663f3c6a55485e870e65c09d3f6ff72

المؤلفون: Christian A. Ross, Mary D. Davis, Sherri M. Biendarra, Marka van Blitterswijk, Mercedes Prudencio, Ralph B. Perkerson, Amelia E Piazza-Johnston, Caroline Stetler, Ranjan Batra, Kevin F. Bieniek, Karen Overstreet, Rosa Rademakers, Kevin B. Boylan, Leonard Petrucelli, Hu Li, Matt Baker, Christopher D. Link, Luc Pregent, Michael DeTure, Melissa E. Murray, Tania F. Gendron, Pamela Desaro, Veronique V. Belzil, Wing C. Lee, Dennis W. Dickson

المصدر: Nature neuroscience

مصطلحات موضوعية: Adult, Polyadenylation, Biology, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Cerebellum, parasitic diseases, medicine, Humans, Amyotrophic lateral sclerosis, Genetic Association Studies, 030304 developmental biology, Aged, Regulation of gene expression, Genetics, 0303 health sciences, C9orf72 Protein, Heterogeneous-Nuclear Ribonucleoprotein Group F-H, Sequence Analysis, RNA, General Neuroscience, Alternative splicing, Amyotrophic Lateral Sclerosis, C9orf72 Gene, RNA, Proteins, Middle Aged, medicine.disease, Frontal Lobe, Alternative Splicing, Gene Expression Regulation, Human medicine, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4c886437ded21eaa7525c31003118d
https://pubmed.ncbi.nlm.nih.gov/26240037

المؤلفون: Dennis W. Dickson, Luc Pregent, Tania F. Gendron, Leonard Petrucelli, Mercedes Prudencio, Lillian M. Daughrity, Kevin B. Boylan, Rosa Rademakers, Peter O. Bauer, Caroline Stetler, Tushar Patel, Matt Baker, Veronique V. Belzil, Irene K. Yan

المصدر: Acta neuropathologica
Acta Neuropathologica

مصطلحات موضوعية: Clinical Neurology, Biology, Histone methylation, Pathology and Forensic Medicine, 03 medical and health sciences, Histone H3, Cellular and Molecular Neuroscience, 0302 clinical medicine, C9orf72, Epigenetics, 030304 developmental biology, 0303 health sciences, Original Paper, Epigenetic modification, Repeat expansion, Amyotrophic lateral sclerosis, Molecular biology, 3. Good health, C9orf72 Protein, Histone, DNA methylation, biology.protein, Neurology (clinical), Human medicine, Trinucleotide repeat expansion, Chromatin immunoprecipitation, 030217 neurology & neurosurgery, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bc0cbe584f7629b467c26dfc20ed4d