Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Frontotemporal Lobar Degeneration/genetics"'
Autor:
Giannini, Lucia A A, Ohm, Daniel T, Rozemuller, Annemieke J M, Dratch, Laynie, Suh, EunRan, van Deerlin, Vivianna M, Trojanowski, John Q, Lee, Edward B, van Swieten, John C, Grossman, Murray, Seelaar, Harro, Irwin, David J
Publikováno v:
Netherlands Brain Bank 2022, ' Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration ', Acta Neuropathologica, vol. 144, no. 6, pp. 1065-1084 . https://doi.org/10.1007/s00401-022-02487-4
Acta Neuropathologica, 144(6), 1065-1084. Springer-Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag GmbH
Acta Neuropathologica, 144(6), 1065-1084. Springer-Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag GmbH
Frontotemporal lobar degeneration with MAPT pathogenic variants (FTLD-MAPT) has heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or four-repeat (4R) tau isoforms, or a combination (3R + 4R). Here, we studied grey
Autor:
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
Publikováno v:
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)30126-1
The Lancet Neurology, 17(6), 548-558. Lancet Publishing Group
The lancet
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)30126-1
Background: Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at on
Autor:
Mizielinska, Sarah, Ridler, Charlotte E., Balendra, Rubika, Thoeng, Annora, Woodling, Nathan S., Grässer, Friedrich A., Plagnol, Vincent, Lashley, Tammaryn, Partridge, Linda, Isaacs, Adrian M.
Publikováno v:
Acta Neuropathol Commun
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-11 (2017)
Mizielinska, S, Ridler, C E, Balendra, R, Thoeng, A, Woodling, N S, Grässer, F A, Plagnol, V, Lashley, T, Partridge, L & Isaacs, A M 2017, ' Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration ', Acta Neuropathologica Communications, vol. 5, no. 1, 29 . https://doi.org/10.1186/s40478-017-0432-x
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-11 (2017)
Mizielinska, S, Ridler, C E, Balendra, R, Thoeng, A, Woodling, N S, Grässer, F A, Plagnol, V, Lashley, T, Partridge, L & Isaacs, A M 2017, ' Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration ', Acta Neuropathologica Communications, vol. 5, no. 1, 29 . https://doi.org/10.1186/s40478-017-0432-x
Acta Neuropathologica Communications
An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8cffffc8c9dbf8d06df8f513631ba9ec
https://hdl.handle.net/21.11116/0000-000B-4F59-A
https://hdl.handle.net/21.11116/0000-000B-4F59-A
Autor:
Karin Peeters, Jean-Jacques Martin, Lubina Dillen, Sebastiaan Engelborghs, Anne Sieben, Marc Cruts, Carolien Vaerenberg, Maria Mattheijssens, Julie van der Zee, Veerle Bäumer, Sandra Pereson, Geert Joris, Stéphanie Philtjens, Githa Maes, Ivy Cuijt, Christine Van Broeckhoven, Patrick Santens, Ellen Elinck, Tim Van Langenhove, Steven Vermeulen, Wim Robberecht, Jasper Van Dongen, Caroline Van Cauwenberghe, Patrick Cras, Marleen Van den Broeck, Ellen Corsmit, Karolien Bettens, Peter Paul De Deyn, Rik Vandenberghe, Ilse Gijselinck, Jan De Bleecker, Peter De Jonghe, Gernot Kleinberger, Kristel Sleegers, Jonathan Janssens
Publikováno v:
The lancet neurology
Summary Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum. A locus on chromosome 9p21 has been associated with both d
Autor:
Peter Paul De Deyn, Oliver Mücke, Christine Van Broeckhoven, Julia Banzhaf-Strathmann, Dieter Edbauer, Rainer Claus, Christoph Plass, Marc Cruts, Julie van der Zee, Kristin Rentzsch, Sebastiaan Engelborghs
Publikováno v:
Acta neuropathologica communications
Acta Neuropathologica Communications
Acta Neuropathologica Communications 1(1), 16 (2013). doi:10.1186/2051-5960-1-16
Acta Neuropathologica Communications
Acta Neuropathologica Communications 1(1), 16 (2013). doi:10.1186/2051-5960-1-16
Background Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of neurodegenerative diseases associated with personality changes and progressive dementia. Loss-of-function mutations in the growth factor progranulin (GRN) cause autosomal
Autor:
Paul Boon, Tim Van Langenhove, Christine Van Broeckhoven, Patrick Santens, Anne Sieben, Peter-Paul De Deyn, Jean-Jacques Martin, Marc Cruts, Patrick Cras, Sebastiaan Engelborghs
Publikováno v:
Acta neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders characterized by disturbances of behavior and personality and different types of language impairment with or without concomitant features of motor neuron disease or parkin
Autor:
John Collinge, Peter Paul De Deyn, Sara Rollinson, Julie van der Zee, David M. A. Mann, Kristel Sleegers, Sebastiaan Engelborghs, Christine Van Broeckhoven, Stuart Pickering-Brown, Jonathan D. Rohrer, Simon Mead
Publikováno v:
Neurobiology of aging
Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has been claimed that homozygosity of the SNP rs5848 located in the 3UTR of progranulin increases risk for FTLD. We have attempted to replicate the associatio
Autor:
Marc Cruts, Jean-Jacques Martin, Karin Peeters, Geert Joris, Githa Maes, Maria Mattheijssens, Christine Van Broeckhoven, Ilse Gijselinck, Patrick Cras, Peter Paul De Deyn, Ivy Cuijt, Sebastiaan Engelborghs, Samir Kumar-Singh
Publikováno v:
Archives of neurology
ResearcherID
ResearcherID
Background Frontotemporal lobar degeneration (FTLD) is a neurodegenerative brain disorder that can be accompanied by signs of amyotrophic lateral sclerosis (ALS). Objective To identify a novel gene for FTLD-ALS. Design Genome-wide linkage study in a
Akademický článek
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