Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

Autor: Schoumans Jacqueline, Björkström Jenny, Fallström Marie, Thonberg Håkan, Nennesmo Inger, Graff Caroline

Publikováno v: BMC Research Notes, Vol 4, Iss 1, p 476 (2011)

Abstract Background Missense mutations in three different genes encoding amyloid-β precursor protein, presenilin 1 and presenilin 2 are recognized to cause familial early-onset Alzheimer disease. Also duplications of the amyloid precursor protein ge

Externí odkaz: https://doaj.org/article/48a011020aed4f5da7fb704f546a5e04

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Autor: Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Black, Sandra, Cosseddu, Maura, Fallström, Marie, Ferreira, Carlos, Fenoglio, Chiara, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Meeter, Lieke, van Minkelen, Rick, Nacmias, Benedetta, Öijerstedt, Linn, Padovani, Alessandro, Panman, Jessica, Pievani, Michela, Polito, Cristina, Premi, Enrico, Prioni, Sara, Rademakers, Rosa, Redaelli, Veronica, Rogaeva, Ekaterina, Rossi, Giacomina, Rossor, Martin, Scarpini, Elio, Tang-Wai, David, Tartaglia, Carmela, Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason, Cash, David M., Bocchetta, Martina, Thomas, David L., Dick, Katrina M., van Swieten, John C., Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni B., Laforce, Robert, Jr., Finger, Elizabeth, de Mendonça, Alexandre, Sorbi, Sandro, Rossor, Martin N., Ourselin, Sebastien, Rohrer, Jonathan D.

Publikováno v: In Neurobiology of Aging February 2018 62:191-196

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Autor: Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise Gp, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita

Publikováno v: The Lancet. Neurology, vol 19, iss 2

BackgroundFrontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5872d2b1cf62dbb3fb678ae6e07af9c4
https://escholarship.org/uc/item/8c33n4x6

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

Autor: Sudre, Carole H., Bocchetta, Martina, Cash, David, Thomas, David L., Woollacott, Ione, Dick, Katrina M., van Swieten, John, Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni, Laforce, Robert, Finger, Elizabeth, De Mendonça, Alexandre, Sorbi, Sandro, Ourselin, Sébastien, Cardoso, M. Jorge, Rohrer, Jonathan D., Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Binetti, Giuliano, Black, Sandra, Cosseddu, Maura, Fallström, Marie, Ferreira, Carlos, Fenoglio, Chiara, Fox, Nick C., Freedman, Morris, Fumagalli, Giorgio, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Meeter, Lieke, van Minkelen, Rick, Nacmias, Benedetta, Öijerstedt, Linn, Padovani, Alessandro, Panman, Jessica, Pievani, Michela, Polito, Cristina, Premi, Enrico, Prioni, Sara, Rademakers, Rosa, Redaelli, Veronica, Rogaeva, Ekaterina, Rossi, Giacomina, Rossor, Martin N., Scarpini, Elio, Tang-Wai, David, Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason D.

Publikováno v: NeuroImage: Clinical, Vol 15, Iss, Pp 171-180 (2017)

© 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/).
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN),

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0ab2878bb5b531f2cbaf7af71422fe20
http://www.sciencedirect.com/science/article/pii/S221315821730092X

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study:A cross-sectional analysis

Autor: Rohrer, Jonathan D., Nicholas, Jennifer M., Cash, David M., van Swieten, John, Dopper, Elise, Jiskoot, Lize, van Minkelen, Rick, Rombouts, Serge A., Cardoso, M. Jorge, Clegg, Shona, Espak, Miklos, Mead, Simon, Thomas, David L., De Vita, Enrico, Masellis, Mario, Black, Sandra E., Freedman, Morris, Keren, Ron, MacIntosh, Bradley J., Rogaeva, Ekaterina, Tang-Wai, David, Tartaglia, Maria Carmela, Laforce, Robert, Tagliavini, Fabrizio, Tiraboschi, Pietro, Redaelli, Veronica, Prioni, Sara, Grisoli, Marina, Borroni, Barbara, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Arighi, Andrea, Fumagalli, Giorgio, Rowe, James B., Coyle-Gilchrist, Ian, Graff, Caroline, Fallström, Marie, Jelic, Vesna, Ståhlbom, Anne Kinhult, Andersson, Christin, Thonberg, Håkan, Lilius, Lena, Frisoni, Giovanni B., Pievani, Michela, Bocchetta, Martina, Benussi, Luisa, Ghidoni, Roberta, Finger, Elizabeth, Sorbi, Sandro, Ourselin, Sebastien, Fox , Nick C, Rossor , Martin N

Publikováno v: Rohrer, J D, Nicholas, J M, Cash, D M, van Swieten, J, Dopper, E, Jiskoot, L, van Minkelen, R, Rombouts, S A, Cardoso, M J, Clegg, S, Espak, M, Mead, S, Thomas, D L, De Vita, E, Masellis, M, Black, S E, Freedman, M, Keren, R, MacIntosh, B J, Rogaeva, E, Tang-Wai, D, Tartaglia, M C, Laforce, R, Tagliavini, F, Tiraboschi, P, Redaelli, V, Prioni, S, Grisoli, M, Borroni, B, Padovani, A, Galimberti, D, Scarpini, E, Arighi, A, Fumagalli, G, Rowe, J B, Coyle-Gilchrist, I, Graff, C, Fallström, M, Jelic, V, Ståhlbom, A K, Andersson, C, Thonberg, H, Lilius, L, Frisoni, G B, Pievani, M, Bocchetta, M, Benussi, L, Ghidoni, R, Finger, E, Sorbi, S, Ourselin, S, Fox, N C & Rossor, M N 2015, ' Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study : A cross-sectional analysis ', The Lancet Neurology, vol. 14, no. 3, pp. 253-262 . https://doi.org/10.1016/S1474-4422(14)70324-2

Background: Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal dominant genetic mutations usually in one of three genes: progranulin (. GRN), microtubule-associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::ff0dc01c992917973f9d73ff8a4456fa
https://kclpure.kcl.ac.uk/en/publications/d5072471-6bc1-4b99-8ca6-0d775bc3fe18