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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
International Journal of Cardiology, ISSN 0167-5273, 2017, Volume 233, pp. 102 - 102
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NATURE GENETICS, ISSN 1061-4036, 08/2019, Volume 51, Issue 8, pp. 1222 - 1222
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 7, pp. 505 - 512
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Clinical Neurology, ISSN 0009-918X, 2014, Volume 54, Issue 12, pp. 1016 - 1017
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International Journal of Cardiology, ISSN 0167-5273, 03/2018, Volume 254, pp. 262 - 262
Journal Article
Rinsho shinkeigaku = Clinical neurology, 2014, Volume 54, Issue 12, p. 1016
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder which is characterized by spasticity of the leg. HSP is a clinically and genetically... 
Exome - genetics | Sequence Analysis - methods | Humans | Paraplegia - genetics | Paraplegia - classification | Paraplegia - diagnosis | Sequence Analysis - trends | Pathology, Molecular | Genome, Human - genetics
Journal Article
Journal of Neurogenetics, ISSN 0167-7063, 07/2015, Volume 29, Issue 2-3, pp. 85 - 94
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 07/2018, Volume 63, Issue 7, pp. 821 - 829
MODY 5 and 6 have been shown to be low-penetrant MODYs. As the genetic background of unknown MODY is assumed to be similar, a new analytical strategy is... 
GRISCELLI-SYNDROME | INSULIN | PANCREATIC-ISLET | VARIANTS | ALGORITHM | DISEASE | GENETICS & HEREDITY | EXPRESSION PROFILE | FRAMEWORK | MUTATIONS | ASSOCIATION
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INTERNATIONAL JOURNAL OF CARDIOLOGY, ISSN 0167-5273, 04/2017, Volume 233, pp. 102 - 102
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New England Journal of Medicine, ISSN 0028-4793, 2013, Volume 369, Issue 3, pp. 233 - 244
Journal Article