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by Renton, Alan E and Majounie, Elisa and Waite, Adrian and Simón-Sánchez, Javier and Rollinson, Sara and Gibbs, J. Raphael and Schymick, Jennifer C and Laaksovirta, Hannu and van Swieten, John C and Myllykangas, Liisa and Kalimo, Hannu and Paetau, Anders and Abramzon, Yevgeniya and Remes, Anne M and Kaganovich, Alice and Scholz, Sonja W and Duckworth, Jamie and Ding, Jinhui and Harmer, Daniel W and Hernandez, Dena G and Johnson, Janel O and Mok, Kin and Ryten, Mina and Trabzuni, Danyah and Guerreiro, Rita J and Orrell, Richard W and Neal, James and Murray, Alex and Pearson, Justin and Jansen, Iris E and Sondervan, David and Seelaar, Harro and Blake, Derek and Young, Kate and Halliwell, Nicola and Callister, Janis Bennion and Toulson, Greg and Richardson, Anna and Gerhard, Alex and Snowden, Julie and Mann, David and Neary, David and Nalls, Michael A and Peuralinna, Terhi and Jansson, Lilja and Isoviita, Veli-Matti and Kaivorinne, Anna-Lotta and Hölttä-Vuori, Maarit and Ikonen, Elina and Sulkava, Raimo and Benatar, Michael and Wuu, Joanne and Chiò, Adriano and Restagno, Gabriella and Borghero, Giuseppe and Sabatelli, Mario and Heckerman, David and Rogaeva, Ekaterina and Zinman, Lorne and Rothstein, Jeffrey D and Sendtner, Michael and Drepper, Carsten and Eichler, Evan E and Alkan, Can and Abdullaev, Ziedulla and Pack, Svetlana D and Dutra, Amalia and Pak, Evgenia and Hardy, John and Singleton, Andrew and Williams, Nigel M and Heutink, Peter and Pickering-Brown, Stuart and Morris, Huw R and Tienari, Pentti J and Traynor, Bryan J and ITALSGEN Consortium
Neuron, ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
Journal Article
by Majounie, Elisa, PhD|Renton, Alan E, PhD|Mok, Kin, MSc|Dopper, Elise GP|Waite, Adrian, PhD|Rollinson, Sara, PhD|Chiò, Adriano, MD|Restagno, Gabriella, MD|Nicolaou, Nayia, MSc|Simon-Sanchez, Javier, PhD|van Swieten, John C, Prof|Abramzon, Yevgeniya|Johnson, Janel O, PhD|Sendtner, Michael, Prof|Pamphlett, Roger, MD|Orrell, Richard W, MD|Mead, Simon, MD|Sidle, Katie C, MD|Houlden, Henry, Prof|Rohrer, Jonathan D, MD|Morrison, Karen E, Prof|Pall, Hardev, MD|Talbot, Kevin, Prof|Ansorge, Olaf, MD|Hernandez, Dena G, MSc|Arepalli, Sampath, MS|Sabatelli, Mario, MD|Mora, Gabriele, MD|Corbo, Massimo, MD|Giannini, Fabio, MD|Calvo, Andrea, MD|Englund, Elisabet, MD|Borghero, Giuseppe, MD|Floris, Gian Luca, MD|Remes, Anne M, Prof|Laaksovirta, Hannu, MD|McCluskey, Leo, MD|Trojanowski, John Q, Prof|Van Deerlin, Vivianna M, MD|Schellenberg, Gerard D, Prof|Nalls, Michael A, PhD|Drory, Vivian E, MD|Lu, Chin-Song, Prof|Yeh, Tu-Hsueh, MD|Ishiura, Hiroyuki, MD|Takahashi, Yuji, MD|Tsuji, Shoji, Prof|Le Ber, Isabelle, MD|Brice, Alexis, Prof|Drepper, Carsten, PhD|Williams, Nigel, PhD|Kirby, Janine, PhD|Shaw, Pamela, Prof|Hardy, John, Prof|Tienari, Pentti J, MD|Heutink, Peter, Prof|Morris, Huw R, MD|Pickering-Brown, Stuart, Prof|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 | CRITERIA | LOBAR DEGENERATION | GENETICS | TDP-43 | FTD | POPULATION-BASED COHORT | ALS | PREVALENCE | MUTATIONS | 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 | Index Medicus | 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
Neurobiology of Aging, ISSN 0197-4580, 3/2012, Volume 33, Issue 3, pp. 437 - 456
Alzheimer’s disease (AD) is a complex disorder with a clear genetic component. Three genes have been identified as the cause of early onset familial AD (EOAD).... 
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2017, Volume 5, Issue 1, pp. 85 - 91
We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene. Two of the cases were hemizygous for a mutant allele. 
CLN | neuronal ceroid lipofuscinosis | Batten | NCL | CLN8 | NEURONAL CEROID-LIPOFUSCINOSES | GENETICS & HEREDITY | MUTATIONS
Journal Article
Biochemical Society Transactions, ISSN 0300-5127, 08/2011, Volume 39, Issue 4, pp. 910 - 916
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2014, Volume 10, Issue 6, pp. 602 - 608.e4
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2015, Volume 30, Issue 6, pp. 828 - 833
Journal Article
PLoS One, ISSN 1932-6203, 2010, Volume 5, Issue 3, pp. e9510 - e9510
Journal Article