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by Ferrari, Raffaele, PhD and Hernandez, Dena G, MSc and Nalls, Michael A, PhD and Rohrer, Jonathan D, PhD and Ramasamy, Adaikalavan, PhD and Kwok, John B J, PhD and Dobson-Stone, Carol, PhD and Brooks, William S, MBBS and Schofield, Peter R, Prof and Halliday, Glenda M, Prof and Hodges, John R, Prof and Piguet, Olivier, PhD and Bartley, Lauren, MSc and Thompson, Elizabeth, MD and Haan, Eric, Prof and Hernández, Isabel, MD and Ruiz, Agustín, MD and Boada, Mercè, MD and Borroni, Barbara, MD and Padovani, Alessandro, Prof and Cruchaga, Carlos, PhD and Cairns, Nigel J, Prof and Benussi, Luisa, PhD and Binetti, Giuliano, MD and Ghidoni, Roberta, PhD and Forloni, Gianluigi, PhD and Galimberti, Daniela, PhD and Fenoglio, Chiara, PhD and Serpente, Maria, PhD and Scarpini, Elio, MD and Clarimón, Jordi, PhD and Lleó, Alberto, MD and Blesa, Rafael, MD and Waldö, Maria Landqvist, MD and Nilsson, Karin, PhD and Nilsson, Christer, PhD and Mackenzie, Ian R A, Prof and Hsiung, Ging-Yuek R, MD and Mann, David M A, Prof and Grafman, Jordan, Prof and Morris, Christopher M, PhD and Attems, Johannes, Prof and Griffiths, Timothy D, Prof and McKeith, Ian G, Prof and Thomas, Alan J, Prof and Pietrini, P, Prof and Huey, Edward D, MD and Wassermann, Eric M, MD and Baborie, Atik, MD and Jaros, Evelyn, PhD and Tierney, Michael C, MSc and Pastor, Pau, MD and Razquin, Cristina, PhD and Ortega-Cubero, Sara, MD and Alonso, Elena, BSc and Perneczky, Robert, MD and Diehl-Schmid, Janine, MD and Alexopoulos, Panagiotis, MD and Kurz, Alexander, MD and Rainero, Innocenzo, MD and Rubino, Elisa, MD and Pinessi, Lorenzo, Prof and Rogaeva, Ekaterina, PhD and St George-Hyslop, Peter, MD and Rossi, Giacomina, PhD and Tagliavini, Fabrizio, MD and Giaccone, Giorgio, MD and Rowe, James B, PhD and Schlachetzki, Johannes C M, MD and Uphill, James, BSc and Collinge, John, Prof and Mead, Simon, Prof and Danek, Adrian, MD and Van Deerlin, Vivianna M, PhD and Grossman, Murray, Prof and Trojanowski, John Q, Prof and van der Zee, Julie, PhD and Deschamps, William, MSc and Van Langenhove, Tim, MD and Cruts, Marc, PhD and Van Broeckhoven, Christine, Prof and Cappa, Stefano F, Prof and Le Ber, Isabelle, MD and Hannequin, Didier, Prof and Golfier, Véronique, MD and Vercelletto, Martine, MD and Brice, Alexis, MD and Nacmias, Benedetta, PhD and Sorbi, Sandro, Prof and Bagnoli, Silvia, PhD and Piaceri, Irene, PhD and Nielsen, Jørgen E, MD and Hjermind, Lena E, MD and Riemenschneider, Matthias, Prof and Mayhaus, Manuel, PhD and Ibach, Bernd, PhD and Gasparoni, Gilles, PhD and Pichler, Sabrina, MSc and Gu, Wei, PhD and Rossor, Martin N, Prof and ... and Lund University and Psychiatry (Lund) and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Psykiatri, Lund and Lunds universitet
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Journal Article
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
by Zhang, Ming and Ferrari, Raffaele and Tartaglia, Maria Carmela and Keith, Julia and Surace, Ezequiel I and Wolf, Uri and Sato, Christine and Grinberg, Mark and Liang, Yan and Xi, Zhengrui and Dupont, Kyle and McGoldrick, Philip and Weichert, Anna and McKeever, Paul M and Schneider, Raphael and McCorkindale, Michael D and Manzoni, Claudia and Rademakers, Rosa and Graff-Radford, Neill R and Dickson, Dennis W and Parisi, Joseph E and Boeve, Bradley F and Petersen, Ronald C and Miller, Bruce L and Seeley, William W and van Swieten, John C and van Rooij, Jeroen and Pijnenburg, Yolande and van der Zee, Julie and Van Broeckhoven, Christine and Le Ber, Isabelle and Van Deerlin, Vivianna and Suh, EunRan and Rohrer, Jonathan D and Mead, Simon and Graff, Caroline and Öijerstedt, Linn and Pickering-Brown, Stuart and Rollinson, Sara and Rossi, Giacomina and Tagliavini, Fabrizio and Brooks, William S and Dobson-Stone, Carol and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Binetti, Giuliano and Benussi, Luisa and Ghidoni, Roberta and Nacmias, Benedetta and Sorbi, Sandro and Bruni, Amalia C and Galimberti, Daniela and Scarpini, Elio and Rainero, Innocenzo and Rubino, Elisa and Clarimon, Jordi and Lleó, Alberto and Ruiz, Agustin and Hernández, Isabel and Pastor, Pau and Diez-Fairen, Monica and Borroni, Barbara and Pasquier, Florence and Deramecourt, Vincent and Lebouvier, Thibaud and Perneczky, Robert and Diehl-Schmid, Janine and Grafman, Jordan and Huey, Edward D and Mayeux, Richard and Nalls, Michael A and Hernandez, Dena and Singleton, Andrew and Momeni, Parastoo and Zeng, Zhen and Hardy, John and Robertson, Janice and Zinman, Lorne and Rogaeva, Ekaterina and Int FTD-Genomics Consortium IFGC and International FTD-Genomics Consortium (IFGC)
Brain, ISSN 0006-8950, 10/2018, Volume 141, Issue 10, pp. 2895 - 2907
Journal Article
by Swarup, Vivek and Hinz, Flora I and Rexach, Jessica E and Noguchi, Ken-ichi and Toyoshiba, Hiroyoshi and Oda, Akira and Hirai, Keisuke and Sarkar, Arjun and Seyfried, Nicholas T and Cheng, Chialin and Haggarty, Stephen J and Ferrari, Raffaele and Rohrer, Jonathan D and Ramasamy, Adaikalavan and Hardy, John and Hernandez, Dena G and Nalls, Michael A and Singleton, Andrew B and Kwok, John B. J and Dobson-Stone, Carol and Brooks, William S and Schofield, Peter R and Halliday, Glenda M and Hodges, John R and Piguet, Olivier and Bartley, Lauren and Thompson, Elizabeth and Haan, Eric and Hernández, Isabel and Ruiz, Agustín and Boada, Mercè and Borroni, Barbara and Padovani, Alessandro and Cairns, Nigel J and Cruchaga, Carlos and Binetti, Giuliano and Ghidoni, Roberta and Benussi, Luisa and Forloni, Gianluigi and Albani, Diego and Galimberti, Daniela and Fenoglio, Chiara and Serpente, Maria and Scarpini, Elio and Clarimón, Jordi and Lleó, Alberto and Blesa, Rafael and Waldö, Maria Landqvist and Nilsson, Karin and Nilsson, Christer and Mackenzie, Ian R. A and Hsiung, Ging-Yuek R and Mann, David M. A and Grafman, Jordan and Morris, Christopher M and Attems, Johannes and Griffiths, Timothy D and McKeith, Ian G and Thomas, Alan J and Jaros, Evelyn and Pietrini, Pietro and Huey, Edward D and Wassermann, Eric M and Tierney, Michael C and Baborie, Atik and Pastor, Pau and Ortega-Cubero, Sara and Razquin, Cristina and Alonso, Elena and Perneczky, Robert and Diehl-Schmid, Janine and Alexopoulos, Panagiotis and Kurz, Alexander and Rainero, Innocenzo and Rubino, Elisa and Pinessi, Lorenzo and Rogaeva, Ekaterina and George-Hyslop, Peter St and Rossi, Giacomina and Tagliavini, Fabrizio and Giaccone, Giorgio and Rowe, James B and Schlachetzki, Johannes C. M and Uphill, James and Collinge, John and Mead, Simon and Danek, Adrian and Van Deerlin, Vivianna M and Grossman, Murray and Trojanowski, John Q and Pickering-Brown, Stuart and Momeni, Parastoo and van der Zee, Julie and Cruts, Marc and Van Broeckhoven, Christine and Cappa, Stefano F and Leber, Isabelle and Brice, Alexis and Hannequin, Didier and Golfier, Véronique and ... and Int Frontotemporal Dementia Gen and International Frontotemporal Dementia Genomics Consortium
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 152 - 164
Journal Article
Journal Article
Journal Article
Brain, ISSN 0006-8950, 11/2006, Volume 129, Issue 11, p. 2966
  Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Aβ-related... 
Journal Article
10.