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by Majounie, Elisa and Renton, Alan E and Mok, Kin and Dopper, Elise GP and Waite, Adrian and Rollinson, Sara and Chiò, Adriano and Restagno, Gabriella and Nicolaou, Nayia and Simon-Sanchez, Javier and van Swieten, John C and Abramzon, Yevgeniya and Johnson, Janel O and Sendtner, Michael and Pamphlett, Roger and Orrell, Richard W and Mead, Simon and Sidle, Katie C and Houlden, Henry and Rohrer, Jonathan D and Morrison, Karen E and Pall, Hardev and Talbot, Kevin and Ansorge, Olaf and Hernandez, Dena G and Arepalli, Sampath and Sabatelli, Mario and Mora, Gabriele and Corbo, Massimo and Giannini, Fabio and Calvo, Andrea and Englund, Elisabet and Borghero, Giuseppe and Floris, Gian Luca and Remes, Anne M and Laaksovirta, Hannu and McCluskey, Leo and Trojanowski, John Q and Van Deerlin, Vivianna M and Schellenberg, Gerard D and Nalls, Michael A and Drory, Vivian E and Lu, Chin-Song and Yeh, Tu-Hsueh and Ishiura, Hiroyuki and Takahashi, Yuji and Tsuji, Shoji and Le Ber, Isabelle and Brice, Alexis and Drepper, Carsten and Williams, Nigel and Kirby, Janine and Shaw, Pamela and Hardy, John and Tienari, Pentti J and Heutink, Peter and Morris, Huw R and Pickering-Brown, Stuart and Traynor, Bryan J and The Chromosome 9-ALS/FTD Consortium and The ITALSGEN Consortium and The French research network on FTLD/FTLD/ALS 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
Lancet neurology, 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
Nature genetics, ISSN 1546-1718, 2011, Volume 43, Issue 7, pp. 699 - 705
Journal Article
Lancet neurology, ISSN 1474-4422, 2015, Volume 14, Issue 10, pp. 1002 - 1009
Journal Article
by Nalls, Mike A and Pankratz, Nathan and Lill, Christina M and Do, Chuong B and Hernandez, Dena G and Saad, Mohamad and DeStefano, Anita L and Kara, Eleanna and Bras, Jose and Sharma, Manu and Schulte, Claudia and Keller, Margaux F and Arepalli, Sampath and Letson, Christopher and Edsall, Connor and Stefansson, Hreinn and Liu, Xinmin and Pliner, Hannah and Lee, Joseph H and Cheng, Rong and Ikram, M Arfan and Ioannidis, John P A and Hadjigeorgiou, Georgios M and Bis, Joshua C and Martinez, Maria and Perlmutter, Joel S and Goate, Alison and Marder, Karen and Fiske, Brian and Sutherland, Margaret and Xiromerisiou, Georgia and Myers, Richard H and Clark, Lorraine N and Stefansson, Kari and Hardy, John A and Heutink, Peter and Chen, Honglei and Wood, Nicholas W and Houlden, Henry and Payami, Haydeh and Brice, Alexis and Scott, William K and Gasser, Thomas and Bertram, Lars and Eriksson, Nicholas and Foroud, Tatiana and Singleton, Andrew B and Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) and GenePD and Hussman Institute of Human Genomics (HIHG) and 23andMe and Greek Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium (IPDGC) and Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) and United Kingdom Brain Expression Consortium (UKBEC) and NeuroGenetics Research Consortium (NGRC) and The Ashkenazi Jewish Dataset Investigator and North American Brain Expression Consortium (NABEC) and Alzheimer Genetic Analysis Group and IPDG and Ashkenazi Jewish Dataset Investiga and 23AndMe and NABEC and HIHG and Greek Parkinson's Dis Consortium and GParkinson's Study Grp PSG Parkins and NGRC and Alzheimer Genetic Analysis Gr and CHARGE and UKBEC and Ashkenazi Jewish Dataset Investigator
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 9, pp. 989 - 993
Journal Article