Zobrazeno 1 - 10
of 35
pro vyhledávání: '"metabolism [Frontotemporal Lobar Degeneration]"'
Autor:
Anika Reifschneider, Sophie Robinson, Bettina van Lengerich, Johannes Gnörich, Todd Logan, Steffanie Heindl, Miriam A Vogt, Endy Weidinger, Lina Riedl, Karin Wind, Artem Zatcepin, Ida Pesämaa, Sophie Haberl, Brigitte Nuscher, Gernot Kleinberger, Julien Klimmt, Julia K Götzl, Arthur Liesz, Katharina Bürger, Matthias Brendel, Johannes Levin, Janine Diehl‐Schmid, Jung Suh, Gilbert Di Paolo, Joseph W Lewcock, Kathryn M Monroe, Dominik Paquet, Anja Capell, Christian Haass
Publikováno v:
The EMBO journal 41(4), e109108 (2022). doi:10.15252/embj.2021109108
Haploinsufficiency of the progranulin (PGRN)-encoding gene (GRN) causes frontotemporal lobar degeneration (GRN-FTLD) and results in microglial hyperactivation, TREM2 activation, lysosomal dysfunction, and TDP-43 deposition. To understand the contribu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561d67316e9f278a34f08b959e8dd608
https://pub.dzne.de/record/163471
https://pub.dzne.de/record/163471
Autor:
Christian Haass, Manabu Ikeda, Frits Kamp, Kohji Mori, Dieter Edbauer, Shinji Tagami, Yuya Kawabe, Ryota Uozumi, Yoshitaka Nagai, Brigitte Nuscher, Shiho Gotoh, Tomoko Yamashita
Publikováno v:
The Journal of Biological Chemistry
The journal of biological chemistry 297(4), 101120 (2021). doi:10.1016/j.jbc.2021.101120
The journal of biological chemistry 297(4), 101120 (2021). doi:10.1016/j.jbc.2021.101120
GGGGCC (G4C2) repeat expansion in the C9orf72 gene has been shown to cause frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Dipeptide repeat proteins produced through repeat-associated non-AUG (RAN) translation are recognized as p
Autor:
Dieter Edbauer, Bahram Khosravi, Dorothee Dormann, Helena Ederle, Christoph Möhl, Martin H. Schludi, Meike Michaelsen, Hannelore Hartmann, Stephanie May
Publikováno v:
Human Molecular Genetics
Human molecular genetics 26(4), ddw432 (2016). doi:10.1093/hmg/ddw432
Human molecular genetics 26(4), ddw432 (2016). doi:10.1093/hmg/ddw432
A repeat expansion in the non-coding region of C9orf72 gene is the most common mutation causing frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Sense and antisense transcripts are translated into aggregating dipeptid
Autor:
Julia Japtok, Kohji Mori, Christian Haass, Markus Weber, Georg Werner, Dieter Edbauer, Thomas Arzberger, Andreas Hermann, Frits Kamp, Andreas Sommacal, Barham Khosravi, Yoshihiro Nihei, Brigitte Nuscher, Bavarian Brain Banking Alliance, Qihui Zhou
Publikováno v:
Acta Neuropathologica
Acta neuropathologica 139(1), 99-118 (2020). doi:10.1007/s00401-019-02082-0
Acta neuropathologica 139(1), 99-118 (2020). doi:10.1007/s00401-019-02082-0
Repeat expansion in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Expanded sense and antisense repeat RNA transcripts in C9orf72 are translated into five dipeptide-repeat proteins (DPRs) in an AUG-independent man
Autor:
Julia K Götzl, Matthias Brendel, Georg Werner, Samira Parhizkar, Laura Sebastian Monasor, Gernot Kleinberger, Alessio‐Vittorio Colombo, Maximilian Deussing, Matias Wagner, Juliane Winkelmann, Janine Diehl‐Schmid, Johannes Levin, Katrin Fellerer, Anika Reifschneider, Sebastian Bultmann, Peter Bartenstein, Axel Rominger, Sabina Tahirovic, Scott T Smith, Charlotte Madore, Oleg Butovsky, Anja Capell, Christian Haass
Publikováno v:
EMBO Molecular Medicine
EMBO molecular medicine 11(6), e9711 (2019). doi:10.15252/emmm.201809711
EMBO Mol. Med. 11, e9711 (2019)
EMBO Molecular Medicine, Vol 11, Iss 6, Pp n/a-n/a (2019)
EMBO molecular medicine 11(6), e9711 (2019). doi:10.15252/emmm.201809711
EMBO Mol. Med. 11, e9711 (2019)
EMBO Molecular Medicine, Vol 11, Iss 6, Pp n/a-n/a (2019)
Microglia adopt numerous fates with homeostatic microglia (HM) and a microglial neurodegenerative phenotype (MGnD) representing two opposite ends. A number of variants in genes selectively expressed in microglia are associated with an increased risk
Autor:
Diehl-Schmid, Janine, Licata, Abigail, Levin, Johannes, Danek, Adrian, Fliessbach, Klaus, Spottke, Annika, Fassbender, Klaus, Lyros, Epameinondas, Prudlo, Johannes, Krause, Bernd Joachim, Volk, Alexander, Edbauer, Dieter, Goldhardt, Oliver, Schroeter, Matthias Leopold, Drzezga, Alexander, Kornhuber, Johannes, Lauer, Martin, Group, FTLDc Study, Grimmer, Timo, Ackl, Nibal, Arnim, Christine V, Brumberg, Joachim, Gärtner, Florian, Förstl, Hans, Jahn, Holger, Kasper, Elisabeth, Kassubek, Jan, Prix, Catharina, Riedl, Lina, Roßmeier, Carola, Schönecker, Sonja, Semler, Elisa, Teipel, Stefan, Westerteicher, Christine, Yakushew, Igor, Wlasich, Elisabeth, Otto, Markus, Anderl-Straub, Sarah, Beer, Ambros, Ludolph, Albert Christian, Landwehrmeyer, Georg Bernhard
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Vol 9, Iss 1, Pp 1-11 (2019)
BASE-Bielefeld Academic Search Engine
Translational Psychiatry 9(1), 54 (2019). doi:10.1038/s41398-019-0381-1
Translational Psychiatry, Vol 9, Iss 1, Pp 1-11 (2019)
BASE-Bielefeld Academic Search Engine
Translational Psychiatry 9(1), 54 (2019). doi:10.1038/s41398-019-0381-1
C9ORF72 mutations are the most common cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). MRI studies have investigated structural changes in C9ORF72-associated FTLD (C9FTLD) and provided first insights
Autor:
Steinacker, Petra, Verde, Federico, Fliessbach, Klaus, Foerstl, Hans, Giese, Armin, Jahn, Holger, Kassubek, Jan, Kornhuber, Johannes, Landwehrmeyer, G Bernhard, Lauer, Martin, Pinkhardt, Elmar Hans, Prudlo, Johannes, Fang, Lubin, Rosenbohm, Angela, Schneider, Anja, Schroeter, Matthias L, Tumani, Hayrettin, von Arnim, Christine A F, Weishaupt, Jochen, Weydt, Patrick, Ludolph, Albert C, Yilmazer Hanke, Deniz, Otto, Markus, Feneberg, Emily, group, FTLDc study, Ackl, Nibal, Arlt, Sönke, Albrecht, Franziska, Bisenius, Sandrine, Gehlhaar, Svenja, Gleiss, Jakob, Halder, Theresa, Lehmbeck, Jan, Lampe, Leonie, Oeckl, Patrick, Levin, Johannes, Maler, Manuel, Oberhauser, Felix, Oberstein, Timo, Prix, Catharina, Raiser, Theresa, Richter-Schmiedinger, Tanja, Saur, Dorothee, Schachner, Lisa, Schönecker, Sonja, Roeber, Sigrun, Schuemberg, Katharina, Stenglein-Krapf, Gisela, Wlasich, Elisabeth, Anderl-Straub, Sarah, Danek, Adrian, Diehl-Schmid, Janine, Fassbender, Klaus
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry
Journal of neurology, neurosurgery, and psychiatry 89(3), 239-247 (2018). doi:10.1136/jnnp-2017-317138
Journal of neurology, neurosurgery, and psychiatry 89(3), 239-247 (2018). doi:10.1136/jnnp-2017-317138
ObjectivesNeurochemical markers of amyotrophic lateral sclerosis (ALS) that reflect underlying disease mechanisms might help in diagnosis, staging and prediction of outcome. We aimed at determining the origin and differential diagnostic and prognosti
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:
Julia K, Götzl, Alessio-Vittorio, Colombo, Katrin, Fellerer, Anika, Reifschneider, Georg, Werner, Sabina, Tahirovic, Christian, Haass, Anja, Capell
Publikováno v:
Molecular neurodegeneration 13(1), 48 (2018). doi:10.1186/s13024-018-0281-5
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-16 (2018)
Molecular Neurodegeneration
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-16 (2018)
Molecular Neurodegeneration
Background Heterozygous loss-of-function mutations in the progranulin gene (GRN) lead to frontotemporal lobar degeneration (FTLD) while the complete loss of progranulin (PGRN) function results in neuronal ceroid lipofuscinosis (NCL), a lysosomal stor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::efc2fc4bd082bd4487491cd046237809
Autor:
Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, German Consortium for Frontotemporal Lobar Degeneration, Bavarian Brain Banking Alliance, Arzberger, Thomas, Edbauer, Dieter, Danek, Adrian, Diehl-Schmid, Janine, Fassbender, Klaus, Hans Förstl, Kornhuber, Johannes, Otto, Markus, Ceballos-Baumann, Andres, Dieterich, Marianne, Feuerecker, Regina, Giese, Armin, Klünemann, Hans, Kurz, Alexander, Levin, Johannes, Lorenzl, Stefan, Meyer, Thomas, Nübling, Georg, Roeber, Sigrun
Publikováno v:
Acta Neuropathol. 130, 537-555 (2015)
Acta neuropathologica 130(4), 537-555 (2015). doi:10.1007/s00401-015-1450-z
Acta Neuropathologica
BASE-Bielefeld Academic Search Engine
Acta neuropathologica 130(4), 537-555 (2015). doi:10.1007/s00401-015-1450-z
Acta Neuropathologica
BASE-Bielefeld Academic Search Engine
A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. Despite its intronic localization and lack of a canonical start codon, both stra