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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
by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
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European Journal of Paediatric Neurology, ISSN 1090-3798, 11/2011, Volume 15, Issue 6, pp. 558 - 562
We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their... 
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Infant Behavior and Development, ISSN 0163-6383, 11/2019, Volume 57, p. 101331
Efficient visual search, wherein reaction times to acquire targets are largely independent of array size, is commonly observed in adults. Evidence for... 
Development | Infancy | Visual search | Visual attention
Journal Article
BRITISH JOURNAL OF CANCER, ISSN 0007-0920, 09/2012, Volume 107, Issue 7, pp. 1203 - 1203
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International Journal of Occupational and Environmental Health, ISSN 1077-3525, 2010, Volume 16, Issue 4, pp. 467 - 474
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Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2015, Volume 3, Issue 4, pp. 320 - 326
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European Respiratory Journal, ISSN 0903-1936, 12/2009, Volume 34, Issue 6, pp. 1477 - 1486
Journal Article
International Journal of Occupational and Environmental Health, ISSN 1077-3525, 10/2010, Volume 16, Issue 4, p. 467
  Given the development of nanotechnology within numerous scientific disciplines, it is likely that nanoscale products have been and will be used for... 
Toxicology | Pesticides | Human exposure | Occupational health | Health risk assessment | Nanotechnology
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The Pediatric Infectious Disease Journal, ISSN 0891-3668, 05/2018, Volume 37, Issue 5, pp. 499 - 500
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American Journal of Pharmaceutical Education, ISSN 0002-9459, 09/2013, Volume 77, Issue 8, p. 1
  To determine the impact of performing critical-thinking and reflection assignments within interdisciplinary learning teams in a biochemistry course on... 
Health care | Dental schools | Biomedical research | Nutrition | Physicians | Service learning | Biochemistry | Medical schools | Learning | Studies | Education | Critical thinking | Collaboration | Accountability | Patient safety | Pharmacists | Drug stores | Professions
Journal Article
American Journal of Pharmaceutical Education, ISSN 0002-9459, 09/2012, Volume 76, Issue 8, p. 1
  To measure changes in pharmacy and medical students' physician-pharmacist collaboration scores resulting from a workshop designed to promote understanding of... 
Physicians | Attitudes | Empathy | Workshops | Patients | Polls & surveys | Studies | Design | Core curriculum | Hospitals | Education | Pharmacy | Patient satisfaction | Drug stores
Journal Article