المؤلفون: Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-21 (2019)

مصطلحات موضوعية: Frontotemporal dementia, Frontotemporal lobar degeneration, Amyotrophic lateral sclerosis, Motor neuron disease, C9orf72, Transcriptomics, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-019-0797-0; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/ab2960ee954841b5ba17d0dbe2ec19e5

المؤلفون: Daniel P Wickland, Yingxue Ren, Jason P Sinnwell, Joseph S Reddy, Cyril Pottier, Vivekananda Sarangi, Minerva M Carrasquillo, Owen A Ross, Steven G Younkin, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew E Hudson, Liudmila Sergeevna Mainzer, Joanna M Biernacka, Yan W Asmann

المصدر: PLoS ONE, Vol 16, Iss 4, p e0249305 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2e9708b8dcae4ea494fdb98162313af4

المؤلفون: Yingxue Ren, Joseph S. Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P. Sinnwell, Shannon K. McDonnell, Joanna M. Biernacka, Minerva M. Carrasquillo, Owen A. Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W. Asmann

المصدر: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Missing variants, Combining multiple bioinformatics pipelines, Rare variants, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-018-2151-0; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/b1a9fac1162a4974805bb9c441d8f557

المؤلفون: Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M. Nicholson, Matt Baker, Ging-Yuek R. Hsiung, Charles Krieger, Pheth Sengdy, Kevin B. Boylan, Dennis W. Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A. Zivkovic, David Lacomis, J. Paul Taylor, Rosa Rademakers, Ian R. A. Mackenzie

المصدر: Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontotemporal lobar degeneration, T-cell restricted intracellular antigen-1, TDP-43, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-017-0493-x; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/e0d91199d2474d74ba7a17e9667fb08b

المؤلفون: Alexandra M. Nicholson, NiCole A. Finch, Marcio Almeida, Ralph B. Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R. Wood, Timothy M. Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M. Teslovich, Alisa K. Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A. Zahir, Julia E. Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W. Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L. Miller, Shawn Ferguson, Ronald C. Petersen, Neill Graff-Radford, John Blangero, Rosa Rademakers

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/69727bed9cd74c41b1fff7349a1c4efe

المؤلفون: Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson-Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff-Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García-Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1861832d934c49a490f60c7997786e48

المؤلفون: Annemieke J.M.H. Verkerk, Rick van Minkelen, Merel O. Mol, Laura Donker Kaat, Anneke J.A. Kievit, Shamiram Melhem, Jeroen van Rooij, Rosa Rademakers, Harro Seelaar, John C. van Swieten, Elise G.P. Dopper, Cyril Pottier, Tsz H. Wong

المساهمون: Neurology, Internal Medicine, Clinical Genetics

المصدر: Neurobiology of aging
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Cell Cycle Proteins, tau Proteins, Biology, Protein Serine-Threonine Kinases, TARDBP, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Valosin Containing Protein, Genetic variation, Exome Sequencing, medicine, Presenilin-1, Humans, Genetic Predisposition to Disease, Exome sequencing, Genetic Association Studies, Genetics, General Neuroscience, Genetic Variation, Membrane Transport Proteins, medicine.disease, DNA-Binding Proteins, Cytoskeletal Proteins, 030104 developmental biology, Frontotemporal Dementia, Female, Neurology (clinical), Human medicine, Geriatrics and Gerontology, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Developmental Biology, Frontotemporal dementia, Genetic screen

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f03d6e98342715d34a7661e046faf28
https://doi.org/10.1016/j.neurobiolaging.2020.07.014

المؤلفون: Cyril Pottier, Ligia Mateiu, Matthew C Baker, Mariely DeJesus-Hernandez, Cristina Teixeira Vicente, NiCole A Finch, Shulan Tian, Marka van Blitterswijk, Melissa E Murray, Yingxue Ren, Leonard Petrucelli, Björn Oskarsson, Joanna M Biernacka, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, Keith A Josephs, Yan W Asmann, Dennis W Dickson, Rosa Rademakers

المصدر: Brain

مصطلحات موضوعية: Brain, nutritional and metabolic diseases, nervous system diseases, DNA-Binding Proteins, Progranulins, Frontotemporal Dementia, Mutation, mental disorders, Humans, Intercellular Signaling Peptides and Proteins, Neurology (clinical), Human medicine, Frontotemporal Lobar Degeneration, Transcriptome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d495838414d2db1eae56c59d931a1ee
https://repository.uantwerpen.be/docstore/d:irua:13382

المؤلفون: Joseph S. Reddy, Bjorn Oskarsson, Shulan Tian, Matt Baker, Tania F. Gendron, Michael G. Heckman, Melissa E. Murray, Ni Cole A. Finch, David S. Knopman, Keith A. Josephs, John W. Sheppard, Jazmyne L. Jackson, Yingxue Ren, Leonard Petrucelli, Mariely DeJesus-Hernandez, Dennis W. Dickson, Cyril Pottier, Ronald C. Petersen, Rosa Rademakers, Bradley F. Boeve, Yan W. Asmann, Neill R. Graff-Radford, Marka van Blitterswijk

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-21 (2019)
Acta Neuropathologica Communications
Acta neuropathologica communications

مصطلحات موضوعية: Male, Heterozygote, Cyclin dependent kinase like 1, Biology, Frontotemporal lobar degeneration, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, C9orf72, Machine learning, Humans, Gene Regulatory Networks, Motor neuron disease, Transcriptomics, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, Repeat expansion disorders, Vesicular transport, DNA Repeat Expansion, C9orf72 Protein, Research, RNA sequencing, Middle Aged, Amyotrophic lateral sclerosis, Cell biology, Frontal Lobe, Vesicular transport protein, Protein Transport, RNA splicing, Female, Neurology (clinical), Synaptic signaling, Guanine nucleotide exchange factor, Human medicine, Trinucleotide repeat expansion, Transcriptome, 030217 neurology & neurosurgery, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931f6d09b09ee017458c49d124a481c8
http://link.springer.com/article/10.1186/s40478-019-0797-0

المؤلفون: Virginie Bellet, Tiphany Gouveia, Cyril Pottier, Pascal Drakulovski, Sébastien Bertout, Frédéric Roger, Donika Krasteva

المصدر: MycosesREFERENCES. 65(1)

مصطلحات موضوعية: Cryptococcus neoformans, Serotype, Molecular epidemiology, biology, Genotype, Broth microdilution, Flucytosine, Cryptococcus gattii, Dermatology, General Medicine, Cryptococcosis, bacterial infections and mycoses, biology.organism_classification, Microbiology, Infectious Diseases, Multilocus sequence typing, Humans, Mycological Typing Techniques, Genotyping, Fluconazole, Multilocus Sequence Typing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1b42c064bcebc3a9c8d3de54254e83
https://pubmed.ncbi.nlm.nih.gov/34726802