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1دورية أكاديمية
المؤلفون: Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Jennifer M. Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G. Heckman, E. Aubrey Thompson, Dennis W. Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswijk
المصدر: Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: C9orf72, Amyotrophic lateral sclerosis, Motor neuron disease, Repeat expansion disorder, Anticipation, Hypermethylation, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1326
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook, Daniel J. Serie, Michael G. Heckman, NiCole A. Finch, Richard J. Caselli, Ryan J. Uitti, Zbigniew K. Wszolek, Neill Graff-Radford, Leonard Petrucelli, Li-San Wang, Gerard D. Schellenberg, Dennis W. Dickson, Rosa Rademakers, Owen A. Ross
المصدر: Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Alexandra M. Nicholson, Xiaolai Zhou, Ralph B. Perkerson, Tammee M. Parsons, Jeannie Chew, Mieu Brooks, Mariely DeJesus-Hernandez, NiCole A. Finch, Billie J. Matchett, Aishe Kurti, Karen R. Jansen-West, Emilie Perkerson, Lillian Daughrity, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Fenghua Hu, Tania F. Gendron, Melissa E. Murray, Dennis W. Dickson, John D. Fryer, Leonard Petrucelli, Rosa Rademakers
المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5دورية أكاديمية
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
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6
المؤلفون: Axel D. Meneses, Shunsuke Koga, Zonghua Li, Justin O'Leary, Fuyao Li, Kai Chen, Aya Murakami, Wenhui Qiao, Aishe Kurti, Michael G. Heckman, Launia White, Manling Xie, Yixing Chen, Nicole A. Finch, Melina J. Lim, Marion Delenclos, Michael A. DeTure, Cynthia Linares, Nicholas B. Martin, Tadafumi C. Ikezu, Marka M. van Blitterswijk, Long‐Jun Wu, Pamela J. McLean, Rosa Rademakers, Owen A. Ross, Dennis W. Dickson, Guojun Bu, Na Zhao
المصدر: Annals of Neurology. 93:830-843
مصطلحات موضوعية: Neurology, Neurology (clinical)
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7
المؤلفون: Leonard Petrucelli, Keith A. Josephs, Tania F. Gendron, Bjorn Oskarsson, Ronald C. Petersen, John D. Fryer, Neill R. Graff-Radford, David S. Knopman, Mark T. W. Ebbert, Eric D. Wieben, Ian J. McLaughlin, Ross A. Aleff, Jazmyne L. Jackson, Rosa Rademakers, Bradley F. Boeve, Marka van Blitterswijk, Nicole A. Finch, Dennis W. Dickson, Mariely DeJesus-Hernandez, Matt Baker, John Harting, Melissa E. Murray
المصدر: Brain
مصطلحات موضوعية: Male, 0301 basic medicine, amyotrophic lateral sclerosis, Biology, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Cerebellum, Report, medicine, Humans, Survival advantage, Amyotrophic lateral sclerosis, Aged, Southern blot, Genetics, DNA Repeat Expansion, C9orf72 Protein, AcademicSubjects/SCI01870, Intron, Neurodegenerative Diseases, Sequence Analysis, DNA, Frontotemporal lobar degeneration, Middle Aged, medicine.disease, Cross-Sectional Studies, 030104 developmental biology, frontotemporal lobar degeneration, long-read sequencing, motor neuron disease, Female, AcademicSubjects/MED00310, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery, GC-content
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41e708bb8f8534ca6335b9ea79417a0
https://doi.org/10.1093/brain/awab006 -
8
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 -
9
المؤلفون: Neill R. Graff-Radford, Richard J. Caselli, Zbigniew K. Wszolek, Leonard Petrucelli, Gerard D. Schellenberg, Naomi Kouri, Li-San Wang, Ryan J. Uitti, Casey Cook, Michael G. Heckman, Dennis W. Dickson, Owen A. Ross, Monica Sanchez-Contreras, Nicole A. Finch, Rosa Rademakers, Daniel J. Serie
المصدر: Molecular neurodegeneration
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-10 (2018)
Molecular Neurodegenerationمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Candidate gene, Neurology, Genotype, Organic Anion Transporters, Genome-wide association study, Biology, lcsh:Geriatrics, Polymorphism, Single Nucleotide, lcsh:RC346-429, Progressive supranuclear palsy, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, EIF2AK3, Molecular Biology, lcsh:Neurology. Diseases of the nervous system, Aged, Aged, 80 and over, Genetics, Middle Aged, medicine.disease, Genetic architecture, eye diseases, 3. Good health, lcsh:RC952-954.6, 030104 developmental biology, Dual-Specificity Phosphatases, Mitogen-Activated Protein Kinase Phosphatases, Female, Supranuclear Palsy, Progressive, Neurology (clinical), Tauopathy, Human medicine, 030217 neurology & neurosurgery, Research Article, Genome-Wide Association Study
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10
المؤلفون: David J. Irwin, Nilufer Ertekin-Taner, Sara Rollinson, Mads Kjolby, John Hardy, Julia Kofler, Robert A. Rissman, Bernardino Ghetti, Stuart Pickering-Brown, Jonathan Glass, Carlos Cruchaga, Jonathan D. Rohrer, Keith A. Josephs, Maura Gallo, Parastoo Momeni, Emilia J. Sitek, Matthis Synofzik, Sandro Sorbi, Carlo Wilke, Oscar L. Lopez, Nigel J. Cairns, Miren Zulaica, Peter Heutink, Leonard Petrucelli, Bret M. Evers, Luisa Benussi, Jeroen van Rooij, Olivier Piguet, Sandra E. Black, Bradley F. Boeve, Cyril Pottier, Eric M. Reiman, Melissa E. Murray, Ralph B. Perkerson, Daniela Galimberti, Thomas G. Beach, Giorgio G. Fumagalli, Giacomina Rossi, David M. A. Mann, John B.J. Kwok, Harro Seelaar, Edward B. Lee, Jean-Paul Vonsattel, Didier Hannequin, Rosa Rademakers, John R. Hodges, Nicole A. Finch, John Q. Trojanowski, David S. Knopman, Yingxue Ren, Albert Lladó, Anders Nykjaer, Claire Troakes, Linn Öijerstedt, EunRan Suh, Isabelle Le Ber, Juliane Winkelmann, Ian R. Mackenzie, Glenda M. Halliday, William W. Seeley, Salvatore Spina, Simon Mead, Elio Scarpini, Fabrizio Tagliavini, Bruce L. Miller, Mariely DeJesus-Hernandez, Dennis W. Dickson, Elizabeth Christopher, Mario Masellis, Florence Pasquier, Roberta Ghidoni, Janine Diehl-Schmid, Silvia Bagnoli, Barbara Borroni, Adam L. Boxer, Adrian L. Oblak, Elizabeth Finger, Carol F. Lippa, Giuliano Binetti, Eileen H. Bigio, Vivianna M. Van Deerlin, Anna Karydas, William S. Brooks, Julie S. Snowden, Anna Richardson, Lea T. Grinberg, Manuela Neumann, Jordan Grafman, Zbigniew K. Wszolek, Edward D. Huey, Caroline Graff, John C. van Swieten, Sandra Weintraub, Raffaele Maletta, Ekaterina Rogaeva, Fermin Moreno, Raffaele Ferrari, Charles L. White, Adolfo López de Munain, Neill R. Graff-Radford, Camilla Ferrari, Jill R. Murell, Marwan N. Sabbagh, Raquel Sánchez-Valle, Marka van Blitterswijk, Alessandro Padovani, Peter Johannsen, Daniel J. Serie, Francesca Frangipane, Safa Al-Sarraj, Anna Antonell, Kevin F. Bieniek, Tsz H. Wong, Ging-Yuek Robin Hsiung, Jarosław Sławek, Matthew B. Baker, Gregory D. Jenkins, Ronald C. Petersen, Murray Grossman, Benedetta Nacmias, Tammee M. Parsons, Lawrence S. Honig, Maria Anfossi, Richard J. Caselli, Changiz Geula, Marla Gearing, M.-Marsel Mesulam, Xiaolai Zhou, Joanna M. Biernacka, Joseph E. Parisi, Irene Piaceri, Jorgen E. Nielsen, Amalia C. Bruni
المساهمون: Human genetics, Amsterdam Neuroscience - Neurodegeneration, Erasmus MC other, Neurology
المصدر: The lancet neurology
The Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
The lancet/ Neurology 17(6), 548-558 (2018). doi:10.1016/S1474-4422(18)30126-1
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, Le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N C A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E R, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, Van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations : a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1
Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
Pottier, C, Zhou, X, Perkerson, R B, Baker, M, Jenkins, G D, Serie, D J, Ghidoni, R, Benussi, L, Binetti, G, López de Munain, A, Zulaica, M, Moreno, F, le Ber, I, Pasquier, F, Hannequin, D, Sánchez-Valle, R, Antonell, A, Lladó, A, Parsons, T M, Finch, N A, Finger, E C, Lippa, C F, Huey, E D, Neumann, M, Heutink, P, Synofzik, M, Wilke, C, Rissman, R A, Slawek, J, Sitek, E, Johannsen, P, Nielsen, J R E, Ren, Y, van Blitterswijk, M, DeJesus-Hernandez, M, Christopher, E, Murray, M E, Bieniek, K F, Evers, B M, Ferrari, C, Rollinson, S, Richardson, A, Scarpini, E, Fumagalli, G G, Padovani, A, Hardy, J, Momeni, P, Ferrari, R, Frangipane, F, Maletta, R, Anfossi, M, Gallo, M, Petrucelli, L, Suh, E, Lopez, O L, Wong, T H, van Rooij, J G J, Seelaar, H, Mead, S, Caselli, R J, Reiman, E M, Noel Sabbagh, M, Kjolby, M, Nykjaer, A, Karydas, A M, Boxer, A L, Grinberg, L T, Grafman, J, Spina, S, Oblak, A, Mesulam, M M, Weintraub, S, Geula, C, Hodges, J R, Piguet, O, Brooks, W S, Irwin, D J, Trojanowski, J Q, Lee, E B, Josephs, K A, Parisi, J E, Ertekin-Taner, N, Knopman, D S, Nacmias, B, Piaceri, I, Bagnoli, S, Sorbi, S, Gearing, M, Glass, J, Beach, T G, Black, S E, Masellis, M, Rogaeva, E, Vonsattel, J-P, Honig, L S, Kofler, J, Bruni, A C, Snowden, J, Mann, D, Pickering-Brown, S, Diehl-Schmid, J, Winkelmann, J, Galimberti, D, Graff, C, Öijerstedt, L, Troakes, C, Al-Sarraj, S, Cruchaga, C, Cairns, N J, Rohrer, J D, Halliday, G M, Kwok, J B, van Swieten, J C, White, C L, Ghetti, B, Murell, J R, Mackenzie, I R A, Hsiung, G-Y R, Borroni, B, Rossi, G, Tagliavini, F, Wszolek, Z K, Petersen, R C, Bigio, E H, Grossman, M, van Deerlin, V M, Seeley, W W, Miller, B L, Graff-Radford, N R, Boeve, B F, Dickson, D W, Biernacka, J M & Rademakers, R 2018, ' Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study ', The Lancet Neurology, vol. 17, no. 6, pp. 548-558 . https://doi.org/10.1016/S1474-4422(18)30126-1مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, RNA, Messenger/metabolism, Genome-wide association study, Disease, Gene mutation, genetics [Progranulins], 0302 clinical medicine, Progranulins, Cerebellum, GFRA2 protein, human, Medicine, Age of Onset, genetics [Genetic Predisposition to Disease], Genetic Predisposition to Disease/genetics, Frontotemporal lobar degeneration, metabolism [Cerebellum], Middle Aged, 3. Good health, Frontotemporal Dementia, Female, genetics [Frontotemporal Lobar Degeneration], Frontotemporal dementia, medicine.medical_specialty, Glial Cell Line-Derived Neurotrophic Factor Receptors, Mutation/genetics, Genetic counseling, genetics [Mutation], Progranulins/genetics, metabolism [RNA, Messenger], Article, 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, ddc:610, RNA, Messenger, Cerebellum/metabolism, Aged, business.industry, metabolism [Progranulins], Case-control study, genetics [Glial Cell Line-Derived Neurotrophic Factor Receptors], Odds ratio, medicine.disease, metabolism [Frontotemporal Lobar Degeneration], metabolism [Glial Cell Line-Derived Neurotrophic Factor Receptors], 030104 developmental biology, Case-Control Studies, Mutation, GRN protein, human, Frontotemporal Lobar Degeneration/genetics, Neurology (clinical), Human medicine, Frontotemporal Lobar Degeneration, business, Glial Cell Line-Derived Neurotrophic Factor Receptors/genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study