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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
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2015, Volume 52, Issue 12, pp. 848 - 855
ObjectiveA recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association... 
VARIANTS | GENETIC RISK | DISEASE | GUIDELINES | GENETICS & HEREDITY | POWER | DIAGNOSTIC-CRITERIA | LINKAGE | Genetic Predisposition to Disease | Genome-Wide Association Study | Gene Frequency | Humans | Risk Factors | Multiple Sclerosis - genetics | Polymorphism, Single Nucleotide | Genetic Loci | Case-Control Studies | Multiple sclerosis | Usage | Genetic aspects | Risk factors | Meta-analysis
Journal Article
by Baranzini, Sergio E and Khankhanian, Pouya and Patsopoulos, Nikolaos A and Li, Michael and Stankovich, Jim and Cotsapas, Chris and Søndergaard, Helle Bach and Ban, Maria and Barizzone, Nadia and Bergamaschi, Laura and Booth, David and Buck, Dorothea and Cavalla, Paola and Celius, Elisabeth G and Comabella, Manuel and Comi, Giancarlo and Compston, Alastair and Cournu-Rebeix, Isabelle and D’alfonso, Sandra and Damotte, Vincent and Din, Lennox and Dubois, Bénédicte and Elovaara, Irina and Esposito, Federica and Fontaine, Bertrand and Franke, Andre and Goris, An and Gourraud, Pierre-Antoine and Graetz, Christiane and Guerini, Franca R and Guillot-Noel, Léna and Hafler, David and Hakonarson, Hakon and Hall, Per and Hamsten, Anders and Harbo, Hanne F and Hemmer, Bernhard and Hillert, Jan and Kemppinen, Anu and Kockum, Ingrid and Koivisto, Keijo and Larsson, Malin and Lathrop, Mark and Leone, Maurizio and Lill, Christina M and Macciardi, Fabio and Martin, Roland and Martinelli, Vittorio and Martinelli-Boneschi, Filippo and McCauley, Jacob L and Myhr, Kjell-Morten and Naldi, Paola and Olsson, Tomas and Oturai, Annette and Pericak-Vance, Margaret A and Perla, Franco and Reunanen, Mauri and Saarela, Janna and Saker-Delye, Safa and Salvetti, Marco and Sellebjerg, Finn and Sørensen, Per Soelberg and Spurkland, Anne and Stewart, Graeme and Taylor, Bruce and Tienari, Pentti and Winkelmann, Juliane and Zipp, Frauke and Ivinson, Adrian J and Haines, Jonathan L and Sawcer, Stephen and DeJager, Philip and Hauser, Stephen L and Oksenberg, Jorge R and Wellcome Trust Case Control Consor and Int Multiple Sclerosis Genetics Co and International Multiple Sclerosis Genetics Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 854 - 865
Journal Article
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 6, pp. 1778 - 1782
Journal Article