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المؤلفون: Brenner, David, Yilmaz, Rüstem, Weber, Markus, Pinto, Susana, Claeys, Kristl, Schrank, Berthold, Jordan, Berit, Knehr, Antje, Günther, Kornelia, Hübers, Annemarie, Zeller, Daniel, Kubisch, Christian, Müller, Kathrin, Jablonka, Sibylle, Sendtner, Michael, Klopstock, Thomas, de Carvalho, Mamede, Sperfeld, Anne, Borck, Guntram, Volk, Alexander E., Dorst, Johannes, Weis, Joachim, Otto, Markus, Grehl, Torsten, Schuster, Joachim, Del Tredici, Kelly, Braak, Heiko, Danzer, Karin M., Freischmidt, Axel, Meitinger, Thomas, Strom, Tim M., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Petri, Susanne, German ALS network MND-NET, Weyen, Ute, Hermann, Andreas, Hagenacker, Tim, Koch, Jan Christoph, Lingor, Paul, Göricke, Bettina, Zierz, Stephan, Baum, Petra, Wolf, Joachim, Meyer, Thomas, Winkler, Andrea, Young, Peter, Bogdahn, Ulrich, Prudlo, Johannes, Kassubek, Jan, Grosskreutz, Julian, Weydt, Patrick, Ruf, Wolfgang, Neuwirth, Christoph
المساهمون: Hagenacker, Tim (Beitragende*r)
المصدر: Brain : a journal of neurology 141(3), 688-697 (2018). doi:10.1093/brain/awx370
Brain
PubMed Central
Publikationer från Umeå universitet
OpenAIRE
Lirias
Brain 141(3), 688-697 (2018). doi:10.1093/brain/awx370مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, genetics [Kinesin], Medizin, whole exome sequencing, AMYOTROPHIC LATERAL SCLEROSIS 1, 0302 clinical medicine, Spastic, Missense mutation, Exome sequencing, Genetics, food and beverages, Kinesin, Middle Aged, Phenotype, 3. Good health, genetics [Amyotrophic Lateral Sclerosis], metabolism [Lymphocytes], Female, axonal transport, Neurovetenskaper, KIF5A mutations, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, genetics [Kinesins], genetics [Mutation], Biology, metabolism [RNA, Messenger], genetics [RNA, Messenger], 03 medical and health sciences, Humans, ddc:610, RNA, Messenger, Gene, Genetic Association Studies, Aged, Family Health, Neurosciences, Original Articles, drug effects [Lymphocytes], nervous system diseases, Family member, 030104 developmental biology, Neurology (clinical), ALS, 030217 neurology & neurosurgery, KIF5A protein, human
وصف الملف: Print; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c3f40d2dcee1873508c7948349c21d0
https://lirias.kuleuven.be/handle/123456789/611026 -
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المؤلفون: Jennifer Reichbauer, Dagmar Timmann, Yaşar Zorlu, Esra Battaloglu, Michael A. Gonzalez, Günther Woehlke, Burcak Ozes, Levent Öcek, Andrés Caballero Oteyza, Tobias Lindig, Ludger Schöls, Stephan Züchner, Rebecca Schüle, Adriana P. Rebelo, Benjamin Bender
المصدر: Neurology 82(22), 2007-2016 (2014). doi:10.1212/WNL.0000000000000479
مصطلحات موضوعية: Adult, Male, Heterozygote, Hereditary spastic paraplegia, genetics [Kinesin], Medizin, genetics [Kinesins], Intracellular Space, Kinesins, genetics [Mutation], Biology, Compound heterozygosity, medicine.disease_cause, Severity of Illness Index, Article, Cell Movement, Mutant protein, genetics [Spastic Paraplegia, Hereditary], Germany, medicine, Humans, ddc:610, Gene, Genetics, Mutation, Cerebellar ataxia, Spastic Paraplegia, Hereditary, genetics [Cell Movement], Homozygote, Heterozygote advantage, Kinesin, Middle Aged, medicine.disease, Pedigree, Phenotype, KIF1C protein, human, genetics [Intracellular Space], Female, Neurology (clinical), medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d6958b0784ec56264f4b18db18fc10
https://doi.org/10.1212/wnl.0000000000000479 -
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المؤلفون: Norman Klopp, Chih-Mei Chen, Erik Melén, Dirkje S. Postma, Klaus Bønnelykke, Gerard H. Koppelman, Ivan Curjuric, Massimo Mangino, Nicholas J. Timpson, Alexandra I. F. Blakemore, Stephen B. Montgomery, Marjo-Riitta Järvelin, Anneli Pouta, Dorret I. Boomsma, Melanie C. Matheson, Albert Hofman, Matthias Wjst, Hans Bisgaard, Natalija Novak, Deborah Jarvis, Grant W. Montgomery, Frank Geller, Beate St Pourcain, Craig E. Pennell, Manuel A. R. Ferreira, Andre Franke, Alexessander Couto Alves, Frank D. Mentch, Vincent W. V. Jaddoe, Marie Standl, Nicole M. Warrington, Jouke-Jan Hottenga, Jessica L. Buxton, Peter N. Le Souëf, Bjarke Feenstra, Peter D. Sly, Bo L. Chawes, Martina Mueller-Nurasyid, Angela Simpson, Philip J. Thompson, Jacob P. Thyssen, Patrick G. Holt, Eskil Kreiner-Møller, David L. Duffy, Thomas Illig, Johan C. de Jongste, Bo Jacobsson, Joachim Heinrich, Mads Melbye, Wenche Nystad, H-Erich Wichmann, Medea Imboden, Wendy L. McArdle, Carla M. T. Tiesler, Susan M. Ring, Jeff Murray, Lavinia Paternoster, Torkil Menné, Marjan Kerkhof, John Henderson, Ronny Myhre, Lyle J. Palmer, George Davey Smith, Eva Albrecht, Pamela A. F. Madden, Marika Kaakinen, Hansjoerg Baurecht, Nicole Probst-Hensch, Cecilia Kim, Cornelia M. van Duijin, Panos Deloukas, Patrick M. A. Sleiman, Christian Gieger, John A. Curtin, Adnan Custovic, Daniel Glass, Cilla Söderhäll, Annika Sääf, Elke Rodriguez, Nicholas G. Martin, Stephan Weidinger, Tim D. Spector, Adaikalavan Ramasamy, John P. Kemp, Heather A. Boyd, Elisabeth Thiering, David P. Strachan, Anna-Liisa Hartikainen, Hakon Hakonarson, Allan Linneberg, Ralf J. P. van der Valk, Pirro G. Hysi, David M. Evans, Rain Jögi, Ellen A. Nohr, Liesbeth Duijts, Katharina Heim, Veronique Bataille, Fernando Rivadeneira, Maria M. Groen-Blokhuis, Andrew C. Heath, David Ellinghaus, Michael E. March, Holger Prokisch, Regina Foelster-Holst, André G. Uitterlinden, Emmanouil T. Dermitzakis, Juha Pekkanen, Henriette A. Smit
المساهمون: Medical Research Council (MRC), Dermitzakis, Emmanouil, Montgomery, Stephen, Biological Psychology, EMGO+ - Mental Health, Pediatrics, Surgery, Internal Medicine, Epidemiology, Erasmus MC other, Public Health, Groningen Research Institute of Pharmacy, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute for Asthma and COPD (GRIAC)
المصدر: Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, Pourcain, B S, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Nøhr, E A & Australian Asthma Genetics Consortium (AAGC) 2011, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017
Nature Genetics
Nature Genetics; Vol 44
Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, Pourcain, B S, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Nøhr, E A, Jacobsson, B & Australian Asthma Genetics Consortium (AAGC) 2011, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017
Nature Genetics, Vol. 44, No 2 (2012) pp. 187-92
Nature genetics
Nature Genetics, 44(2), 187-192. Nature Publishing Group
Paternoster, L, Standl, M, Chen, C-M, Ramasamy, A, Bonnelykke, K, Duijts, L, Ferreira, M A, Alves, A C, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Saaf, A, Franke, A, Ellinghaus, D, Foelster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, D L, Madden, P A, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souef, P, St Pourcain, B, Smith, G D, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Mueller-Nurasyid, M, Novak, N, Klopp, N, Rodriguez, E, McArdle, W, Linneberg, A, Menne, T, Nohr, E A, Hofman, A, Uitterlinden, A G, van Duijin, C M, Rivadeneira, F, de Jongste, J C, van der Valk, R J P, Wjst, M, Jogi, R, Geller, F, Boyd, H A, Murray, J C, Kim, C, Mentch, F, March, M, Mangino, M, Spector, T D, Bataille, V, Pennell, C E, Holt, P G, Sly, P, Tiesler, C M T, Thiering, E, Illig, T, Imboden, M, Nystad, W, Simpson, A, Hottenga, J-J, Postma, D, Koppelman, G H, Smit, H A, Soderhall, C, Chawes, B, Kreiner-Moller, E, Bisgaard, H, Melen, E, Boomsma, D I, Custovic, A, Jacobsson, B, Probst-Hensch, N M, Palmer, L J, Glass, D, Hakonarson, H, Melbye, M, Jarvis, D L, Jaddoe, V W V, Gieger, C, Strachan, D P, Martin, N G, Jarvelin, M-R, Heinrich, J, Evans, D M & Weidinger, S 2012, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017
Paternoster, L, Standl, M, Chen, C M, Ramasamy, A, Bønnelykke, K, Duijts, L, Ferreira, M A, Couto Alves, A, Thyssen, J P, Albrecht, E, Baurecht, H, Feenstra, B, Sleiman, P M A, Hysi, P, Warrington, N M, Curjuric, I, Myhre, R, Curtin, J A, Groen-Blokhuis, M M, Kerkhof, M, Sääf, A, Franke, A, Ellinghaus, D, Fölster-Holst, R, Dermitzakis, E, Montgomery, S B, Prokisch, H, Heim, K, Hartikainen, A-L, Pouta, A, Pekkanen, J, Blakemore, A I F, Buxton, J L, Kaakinen, M, Duffy, DL, Madden, P A F, Heath, A C, Montgomery, G W, Thompson, P J, Matheson, M C, Le Souëf, P, St Pourcain, B, Davey Smith, G, Henderson, J, Kemp, J P, Timpson, N J, Deloukas, P, Ring, S M, Wichmann, H-E, Müller-Nurasyid, M, Novak, N, Klopp, N, Rodríguez, E, McArdle, W, Linneberg, A, Menné, T, Nohr, E A, Hofman, A, Uitterlinden, A G, van Duijn, C M, Rivadeneira, F, de Jongste, J C, van der Valk, R J P, Wjst, M, Jogi, R, Geller, F, Boyd, H A, Murray, J C, Kim, C, Mentch, F, March, M, Mangino, M, Spector, T D, Bataille, V, Pennell, C E, Holt, P G, Sly, P, Tiesler, C M T, Hottenga, J J, Boomsma, D I, Hakonarson, H, Melbye, M, Ljarvis, D, Jaddoe, V W V, Gieger, C, Strachan, D P, Martin, N G, Jarvelin, M-R, Heinrich, J, Evans, D M & Weidinger, S 2012, ' Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis ', Nature Genetics, vol. 44, no. 2, pp. 187-192 . https://doi.org/10.1038/ng.1017مصطلحات موضوعية: Male, Genetics of Overweight Young Adults (GOYA) Consortium, Netherlands Twin Register (NTR), Epidemiology, Cell Differentiation/genetics Chromosomes, Human, Pair 11/genetics Chromosomes, Human, Pair 20/genetics Chromosomes, Human, Pair 5 Cytokines/genetics DNA-Binding Proteins/genetics Dermatitis, Atopic/*genetics/immunology Epidermis/immunology Female *Genetic Loci Genetic Predisposition to Disease *Genome-Wide Association Study Humans Intermediate Filament Proteins/genetics Kinesin/genetics Male Polymorphism, Single Nucleotide Risk Transcription Factors/genetics, Chromosomes, Human, Pair 20, Kinesins, Genome-wide association study, Filaggrin Proteins, VARIANTS, Chromosomes, Human, Pair 11/genetics, medicine.disease_cause, Genome-wide association studies, DISEASE, 030207 dermatology & venereal diseases, 0302 clinical medicine, Intermediate Filament Proteins, Epidermis/immunology, ddc:576.5, GENETICS & HEREDITY, Genetics, 0303 health sciences, education.field_of_study, PSORIASIS, Cytokines/genetics, Cell Differentiation, Kinesin, 11 Medical And Health Sciences, Atopic dermatitis, 3. Good health, DNA-Binding Proteins, DIFFERENTIATION, Chromosomes, Human, Pair 5, Cytokines, Female, Dermatitis, Atopic/genetics/immunology, Life Sciences & Biomedicine, Kinesin/genetics, Filaggrin, EXPRESSION, Risk, Cell Differentiation/genetics, Population, Transcription Factors/genetics, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Australian Asthma Genetics Consortium (AAGC), Article, MECHANISMS, Dermatitis, Atopic, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, FILAGGRIN, Humans, SPERMATOGENESIS, Genetic Predisposition to Disease, EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium, education, 030304 developmental biology, Science & Technology, Chromosomes, Human, Pair 11, Odds ratio, 06 Biological Sciences, Immune dysregulation, medicine.disease, Chromosomes, Human, Pair 20/genetics, Genetic Loci, Intermediate Filament Proteins/genetics, Immunology, ASTHMA, Epidermis, CELLULAR MOTILITY, DNA-Binding Proteins/genetics, Genome-Wide Association Study, Transcription Factors, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Gerard D. Schellenberg, Owen A. Ross, Rosa Rademakers, Matthew C. Baker, Laura B. Cantwell, Lawrence I. Golbe, Salvatore Spina, Beth A. Dombroski, Hyejin Yoon, Hakon Hakonarsen, Mi Ryung Han, Jorge L. Juncos, Bernardino Ghetti, Günter U. Höglinger, Daniel J. Serie, Alexandra I. Soto-Ortolaza, Marla Gearing, Curtis S. Younkin, John Q. Trojanowski, Zbigniew K. Wszolek, Jungsu Kim, Evan T. Geller, Bernie Devlin, Howard I. Hurtig, Sherry Beecher, Naomi Kouri, Rachel Goldmann Gross, Steven E. Arnold, Gregor K. Wenning, Keith A. Josephs, Nilufer Ertekin-Taner, Ulrich Müller, Bradley F. Boeve, Shinsuke Fujioka, Virginia M.-Y. Lee, Murray Grossman, Joseph E. Parisi, Steven G. Younkin, Ni Cole A. Finch, Jordan Grafman, Edward D. Huey, Charles L. White, Irene Litvan, Catriona McLean, Vivianna M. Van Deerlin, Neill R. Graff-Radford, Dennis W. Dickson, Julia E. Crook, Hans A. Kretzschmar, Sigrun Roeber, Jean Paul Vonsattel, Li-San Wang, Ryan J. Uitti, Martin R. Farlow
المصدر: Nature Communications 6(1), 7247 (2015). doi:10.1038/ncomms8247
Nature communications
Nature Communicationsمصطلحات موضوعية: Male, genetics [Basal Ganglia Diseases], genetics [Kinesin], genetics [SOS1 Protein], Kinesins, General Physics and Astronomy, Genome-wide association study, genetics [RNA, Long Noncoding], Polymorphism (computer science), Corticobasal degeneration, Basal ganglia disease, Genetics, Aged, 80 and over, Cerebral Cortex, Multidisciplinary, KIF13B protein, human, genetics [Supranuclear Palsy, Progressive], Neurodegenerative Diseases, Kinesin, Middle Aged, ddc, 3. Good health, Female, RNA, Long Noncoding, Supranuclear Palsy, Progressive, ddc:500, SOS1 Protein, Engineering sciences. Technology, Myelin Proteins, Adult, genetics [Kinesins], Single-nucleotide polymorphism, MAPT protein, human, tau Proteins, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, genetics [Myelin Proteins], Progressive supranuclear palsy, Young Adult, Basal Ganglia Diseases, medicine, SNP, Humans, Aged, Case-control study, General Chemistry, medicine.disease, genetics [tau Proteins], Case-Control Studies, genetics [Neurodegenerative Diseases], MOBP protein, human, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Petra Füger, Kathrin N. Karle, Doychin T. Stanchev, Carola D. Schneider, Matthias Flötenmeyer, Jeannine V. Kern, Vrinda Sreekumar, Katharina J. Daub, Vera K. Siegert, Rebecca Schüle, Tobias M. Rasse, Ludger Schöls, Heinz Schwarz
المصدر: PLoS Genetics
PLoS Genetics, Vol 8, Iss 11, p e1003066 (2012)
PLoS Genetics 8(11), e1003066 (2012). doi:10.1371/journal.pgen.1003066مصطلحات موضوعية: Cancer Research, genetics [Kinesin], Gene Expression, Kinesins, medicine.disease_cause, Axonal Transport, Microtubules, Mice, genetics [Drosophila Proteins], physiology [Axonal Transport], Molecular Cell Biology, Drosophila Proteins, Genetics (clinical), Genetics, genetics [Drosophila melanogaster], Mutation, Kinesin, Cell biology, genetics [Synapses], Drosophila melanogaster, Neurology, Medicine, Khc protein, Drosophila, Haploinsufficiency, Drosophila Protein, Research Article, pathology [Synapses], Neurofilament, Kif5A protein, mouse, lcsh:QH426-470, metabolism [Microtubules], Biology, genetics [Microtubules], Model Organisms, Microtubule, genetics [Spastic Paraplegia, Hereditary], medicine, Animals, Humans, ddc:610, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Clinical Genetics, Spastic Paraplegia, Hereditary, genetics [Axonal Transport], lcsh:Genetics, Disease Models, Animal, Synapses, Axoplasmic transport, Ectopic expression, Neuroscience
