المؤلفون: Vera H. Price, Li Bian, Tarek Yamany, Silke Redler, Markus M. Nöthen, Stefanie Heilmann, Bettina Blaumeiser, Ulrike Blume-Peytavi, Gina M. DeStefano, Raphael Clynes, Maria K. Hordinsky, Christopher I. Amos, Stephan Ripke, Roland Kruse, Tim Becker, Mark J. Daly, Paul I.W. de Bakker, Annemieke de Jong, Gerhard Lutz, Angela M. Christiano, Annette Lee, Madeliene Duvic, Hans Wolff, Androniki Menelaou, Hailiang Huang, Susanne Moebus, David A. Norris, David Altshuler, Peter K. Gregersen, Lynn Petukhova, Julian Mackay-Wiggan, Markus Böhm, Regina C. Betz

المصدر: Nature communications
Nature Communications [E], 6. Nature Publishing Group
Nature Communications 6(1), 5966 (2015). doi:10.1038/ncomms6966

مصطلحات موضوعية: Male, Protein Conformation, Medizin, General Physics and Astronomy, Genome-wide association study, Mice, HLA Antigens, ATXN2 protein, human, Ataxin-2, Oligonucleotide Array Sequence Analysis, Skin, Genetics, Principal Component Analysis, Multidisciplinary, biology, Bcl-2-Like Protein 11, Intracellular Signaling Peptides and Proteins, LRRC32 protein, human, 3. Good health, genetics [Apoptosis Regulatory Proteins], Bcl2l11 protein, mouse, genetics [Membrane Proteins], Phenotype, genetics [Ataxin-2], Female, ddc:500, Engineering sciences. Technology, Alopecia Areata, Human leukocyte antigen, Major histocompatibility complex, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, metabolism [Skin], Proto-Oncogene Proteins, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, genetics [Alopecia Areata], Alleles, Genetic association, Adaptor Proteins, Signal Transducing, Autoimmune disease, Membrane Proteins, Proteins, General Chemistry, Transforming growth factor beta, Alopecia areata, medicine.disease, genetics [Proteins], genetics [HLA Antigens], LNK protein, human, BCL2L11 protein, human, Microscopy, Fluorescence, Case-Control Studies, Immunology, biology.protein, genetics [Proto-Oncogene Proteins], Human medicine, Apoptosis Regulatory Proteins, Genome-Wide Association Study

وصف الملف: pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f24a8edf5c69cc99c6e61dade0824552Test
https://hdl.handle.net/10067/1226480151162165141Test

المؤلفون: Rosa Rademakers, Andrew Kertesz, Kimmo J. Hatanpaa, Melissa E. Murray, Michael J. Strong, Neill R. Graff-Radford, Elizabeth Finger, Richard J. Caselli, Ian R. Mackenzie, Kevin B. Boylan, Anna Karydas, Joseph E. Parisi, Manuela Neumann, Thomas G. Beach, David S. Knopman, Bradley F. Boeve, Keith A. Josephs, Bianca Mullen, Ging-Yuek Robin Hsiung, Ronald C. Petersen, Lea T. Grinberg, William W. Seeley, Sandra Weintraub, Michael G. Heckman, Heather Stewart, Matt Baker, Eileen H. Bigio, Zbigniew K. Wszolek, Carol F. Lippa, Marka van Blitterswijk, Charles L. White, Dennis W. Dickson, Leonard Petrucelli, M.-Marsel Mesulam, Patricia H. Brown, Bruce L. Miller, Mariely DeJesus-Hernandez

المصدر: Neurobiology of aging, vol 35, iss 10
Neurobiology of aging
Neurobiology of aging 35(10), 2421.e13-2421.e17 (2014). doi:10.1016/j.neurobiolaging.2014.04.016

مصطلحات موضوعية: Male, Aging, SMN1, Neurodegenerative, Cohort Studies, SMN2 protein, human, genetics [Survival of Motor Neuron 2 Protein], C9orf72, Amyotrophic lateral sclerosis, genetics [Frontotemporal Dementia], genetics [Nerve Tissue Proteins], NIPA1 protein, human, Ataxin-2, Genetics, DNA Repeat Expansion, General Neuroscience, ATXN2, genetics [Survival of Motor Neuron 1 Protein], Middle Aged, Disease modifier, Survival of Motor Neuron 2 Protein, genetics [Membrane Proteins], Frontotemporal Dementia (FTD), Ataxins, Frontotemporal Dementia, Neurological, genetics [Motor Neuron Disease], Frontotemporal dementia, Adult, Heterozygote, Clinical Sciences, genetics [DNA Repeat Expansion], C9ORF72, Nerve Tissue Proteins, Biology, Article, Rare Diseases, Clinical Research, Angelman syndrome, medicine, Acquired Cognitive Impairment, Humans, ddc:610, Motor neuron disease, Motor Neuron Disease, Genetic Association Studies, Neurology & Neurosurgery, C9orf72 Protein, Genetic heterogeneity, Neurosciences, Proteins, Membrane Proteins, medicine.disease, genetics [Proteins], Survival of Motor Neuron 1 Protein, nervous system diseases, Brain Disorders, Ataxin, Dementia, Human medicine, Neurology (clinical), C9orf72 protein, human, SMN1 protein, human, Geriatrics and Gerontology, ALS, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fd968afcfad86eb3ed1ac696f9d49fTest
https://escholarship.org/uc/item/0c5158p7Test

المؤلفون: Stefan Stodieck, Bernhard Kohl, Judith Osseforth, Silke Gassner, Matthias Lindenau, Burkhard Puest, Saskia Biskup, Ebba Lohmann, Frieder Brueckner

المصدر: European journal of paediatric neurology 18(4), 540-542 (2014). doi:10.1016/j.ejpn.2014.03.012

مصطلحات موضوعية: Adult, Male, Adolescent, Genetic counseling, genetics [Epilepsy, Benign Neonatal], PRRT2 protein, human, genetics [Mutation], Nerve Tissue Proteins, Biology, complications [Seizures], medicine.disease_cause, complications [Epilepsy, Benign Neonatal], Exon, Chorea, Seizures, genetics [Dyskinesias], Convulsion, medicine, Humans, ddc:610, Child, Gene, genetics [Nerve Tissue Proteins], Genetics, Family Health, Mutation, Dyskinesias, Membrane Proteins, Infantile convulsions and choreoathetosis, PRRT2 Gene, General Medicine, medicine.disease, genetics [Seizures], Epilepsy, Benign Neonatal, genetics [Chorea], complications [Dyskinesias], genetics [Membrane Proteins], complications [Chorea], Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, PRRT2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27143def31a31fe9f224496123807a3Test
https://pub.dzne.de/record/137461Test

المؤلفون: Bernd Schröder, Susann Hüttl, Jürgen Wienands, Kai Dittmann, Ralf Dressel, Michelle Rothaug, Paul Saftig, Michael Engelke, Regina Fluhrer, Torben Mentrup, Janna Schneppenheim, Masatake Araki, Kimi Araki, Renate Lüllmann-Rauch

المصدر: Molecular and cellular biology 34(8), 1398-1411 (2014). doi:10.1128/MCB.00038-14

مصطلحات موضوعية: Signal peptide, Proteases, Proteolysis, medicine.medical_treatment, SPPL2a protein, mouse, Biology, invariant chain, 03 medical and health sciences, Mice, ddc:570, metabolism [Dendritic Cells], SPPL2B, medicine, Animals, Aspartic Acid Endopeptidases, ddc:610, SPPL2b protein, mouse, metabolism [B-Lymphocytes], Molecular Biology, B cell, 030304 developmental biology, Mice, Knockout, B-Lymphocytes, 0303 health sciences, Protease, medicine.diagnostic_test, 030302 biochemistry & molecular biology, Histocompatibility Antigens Class II, Brain, Membrane Proteins, Articles, Dendritic Cells, Cell Biology, metabolism [Aspartic Acid Endopeptidases], Antigens, Differentiation, B-Lymphocyte, Dendritic cell homeostasis, genetics [Membrane Proteins], medicine.anatomical_structure, Biochemistry, metabolism [Antigens, Differentiation, B-Lymphocyte], genetics [Aspartic Acid Endopeptidases], metabolism [Brain], signal peptide peptidase, Heterologous expression, metabolism [Histocompatibility Antigens Class II], metabolism [Membrane Proteins]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290f81def68c61c187030a7631e89458Test

المؤلفون: Yufang Yang, Guillén Fernández, Peter Hagoort, K Hegenscheid, Marcel P. Zwiers, Katharina Wittfeld, Dan-Chao Cai, Alexander Teumer, Barbara Franke, Hans-Jörgen Grabe, Martine Hoogman, H Van Bokhoven, Alejandro Arias-Vasquez, Georg Homuth, Han G. Brunner, Simon E. Fisher, Jan K. Buitelaar, Hubert M. Fonteijn, Clyde Francks, Tulio Guadalupe

المصدر: Genes, Brain and Behavior, 13, 675-85
Genes, Brain and Behavior, 13, 7, pp. 675-85
Genes, Brain and Behavior
Genes, brain and behavior 13(7), 675-685 (2014). doi:10.1111/gbb.12157

مصطلحات موضوعية: Adult, Male, Neuroinformatics, 110 000 Neurocognition of Language, Adolescent, Ubiquitin-Protein Ligases, Quantitative Trait Loci, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Genome-wide association study, Single-nucleotide polymorphism, Sound perception, Protein Serine-Threonine Kinases, Biology, Quantitative trait locus, Auditory cortex, genetics [Protein-Serine-Threonine Kinases], Polymorphism, Single Nucleotide, 150 000 MR Techniques in Brain Function, Behavioral Neuroscience, Gyrus, 130 000 Cognitive Neurology & Memory, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, SNP, ddc:610, Gene, KALRN protein, human, Aged, genetics [Ubiquitin-Protein Ligases], CBLL1 protein, human, Auditory Cortex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genome, Human, Membrane Proteins, Middle Aged, DCBLD2 protein, human, Protein-Serine-Threonine Kinases, genetics [Guanine Nucleotide Exchange Factors], genetics [Membrane Proteins], anatomy & histology [Auditory Cortex], medicine.anatomical_structure, Neurology, POU Domain Factors, POU3F4 protein, human, Female, genetics [POU Domain Factors]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::348c9ff49ccde89d28d5952a076ffb16Test
http://hdl.handle.net/2066/133094Test

المؤلفون: Johnathan Cooper-Knock, Jill R. Murrell, Ann C. McKee, Päivi Hartikainen, Randall L. Woltjer, Peter Paul De Deyn, Lisa C. Silbert, Virginia M.-Y. Lee, Alice Chen-Plotkin, Leo McCluskey, Carol Dobson-Stone, Albert Lladó, David G. Munoz, Paul G. Ince, Nenad Bogdanovic, Carl W. Cotman, Douglas Galasko, Julie van der Zee, Patrick Cras, Christopher J McDermott, Pamela J. Shaw, Murray Grossman, Nick C. Fox, Jillian J. Kril, Stephen B. Wharton, Jonathan D. Rohrer, Eliezer Masliah, Salvatore Spina, Andrew P. Lieberman, Bernardino Ghetti, Olivier Piguet, Kimmo J. Hatanpaa, John B.J. Kwok, Glenda M. Halliday, Vivianna M. Van Deerlin, Janine Kirby, Mary Sano, Julia Kofler, Lauren Elman, Christine M. Hulette, Christine Van Broeckhoven, Irina Alafuzoff, Jordan Grafman, John Q. Trojanowski, Simon Mead, Ilse Gijselinck, Nigel J. Cairns, Sebastiaan Engelborghs, Danielle Seilhean, Lee-Way Jin, Catriona McLean, Allan I. Levey, William S. Brooks, Josh Miller, Julie A. Schneider, Charles L. White, Anna Antonell, Raquel Sánchez-Valle, Safa Al-Sarraj, Ellen Gelpi, John C. van Swieten, Manuela Neumann, Matthew P. Frosch, Henry L. Paulson, Tim Van Langenhove, EunRan Suh, Jason D. Warren, J. Robin Highley, Marc Cruts, John R. Hodges, Martin N. Rossor, Jean Jacques Martin, Charles DeCarli, Michael D. Gallagher, Marla Gearing, Carol A. Miller

المساهمون: Neurology, Obstetrics & Gynecology, Surgery, Human genetics, NCA - neurodegeneration

المصدر: Gallagher, M D, Suh, E R, Grossman, M, Elman, L, McCluskey, L, van Swieten, J C, Al-Sarraj, S, Neumann, M, Gelpi, E, Ghetti, B, Rohrer, J D, Halliday, G, Van Broeckhoven, C, Seilhean, D, Shaw, P J, Frosch, M P, Alafuzoff, I, Antonell, A, Bogdanovic, N, Brooks, W, Cairns, N J, Cooper-Knock, J, Cotman, C, Cras, P, Cruts, M, de Deyn, P P, deCarli, C, Dobson-Stone, C, Engelborghs, S, Fox, N, Galasko, D, Gearing, M, Gijselinck, I, Grafman, J, Hartikainen, P, Hatanpaa, K J, Highley, J R, Hodges, J, Hulette, C, Ince, P G, Jin, L W, Kirby, J, Kofler, J, Kril, J, Kwok, J B J, Levey, A, Lieberman, A, Llado, A, Martin, J J, Masliah, E, McDermott, C J, McKee, A, McLean, C, Mead, S, Miller, C A, Miller, J, Munoz, D G, Murrell, J, Paulson, H, Piguet, O, Rossor, M, Sanchez-Valle, R, Sano, M, Schneider, J, Silbert, L C, Spina, S, van der Zee, J, Van Langenhove, T, Warren, J, Wharton, S B, White, C L, Woltjer, R L, Trojanowski, J Q, Lee, V M Y, Van Deerlin, V & Chen-Plotkin, A S 2014, ' TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions ', Acta Neuropathologica, vol. 127, no. 3, pp. 407-418 . https://doi.org/10.1007/s00401-013-1239-xTest
Acta neuropathologica, vol 127, iss 3
Acta neuropathologica 127(3), 407-418 (2014). doi:10.1007/s00401-013-1239-x
Acta Neuropathologica, 127(3), 407-418. Springer-Verlag
Acta Neuropathologica, 127(3), 407-418. Springer Verlag
Acta neuropathologica

مصطلحات موضوعية: Male, mortality [Amyotrophic Lateral Sclerosis], Aging, Neurodegenerative, Genetic modifier, Cohort Studies, 0302 clinical medicine, Progranulins, C9orf72, Genotype, 80 and over, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, Aetiology, Age of Onset, Alzheimer's Disease Related Dementias (ADRD), genetics [Nerve Tissue Proteins], Genetics, Aged, 80 and over, 0303 health sciences, DNA Repeat Expansion, blood [Intercellular Signaling Peptides and Proteins], Age Factors, Frontotemporal lobar degeneration, Single Nucleotide, Middle Aged, 3. Good health, genetics [Amyotrophic Lateral Sclerosis], genetics [Membrane Proteins], Frontotemporal Dementia (FTD), Neurological, mortality [Frontotemporal Lobar Degeneration], Intercellular Signaling Peptides and Proteins, Female, genetics [Frontotemporal Lobar Degeneration], Frontotemporal dementia, Adult, Heterozygote, Clinical Sciences, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, TMEM106B protein, human, Rare Diseases, SDG 3 - Good Health and Well-being, mental disorders, medicine, Acquired Cognitive Impairment, Humans, Genetic Predisposition to Disease, ddc:610, blood [Frontotemporal Lobar Degeneration], Allele, Polymorphism, Alleles, 030304 developmental biology, Aged, Neurology & Neurosurgery, C9orf72 Protein, Prevention, Amyotrophic Lateral Sclerosis, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), nutritional and metabolic diseases, Membrane Proteins, Proteins, medicine.disease, genetics [Proteins], Brain Disorders, nervous system diseases, TMEM106B, GRN protein, human, Dementia, Neurology (clinical), Human medicine, Age of onset, C9orf72 protein, human, Frontotemporal Lobar Degeneration, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df5a2a95a9f36401f47f03b53fa5fa3Test
https://research.vumc.nl/en/publications/16668399-814b-40f8-a978-0e5a86d59bcbTest

المؤلفون: Karl-W. Koch, Teresa Duda, Anna Jankowska, Christian Lange, Venkateswar Venkataraman, Rameshwar K. Sharma

المصدر: Biochemistry 39, 12522-12533 (2000). doi:10.1021/bi001514d

مصطلحات موضوعية: pathology [Retinal Degeneration], GUCY1B3, genetics [Enzyme Activation], genetics [Retinal Degeneration], Biochemistry, metabolism [Guanylate Cyclase], Calcium signaling, genetics [Guanylate Cyclase], GUCY1A2, pathology [Rod Cell Outer Segment], Retinal Degeneration, GUCY1A3, Guanylate cyclase 2C, Cell biology, genetics [Synapses], genetics [Membrane Proteins], COS Cells, Chromatography, Gel, Dimerization, Visual phototransduction, pathology [Synapses], biosynthesis [Guanylate Cyclase], Mutation, Missense, Receptors, Cell Surface, Biology, Cyclase, genetics [Amino Acid Substitution], Cell Line, biosynthesis [Membrane Proteins], ddc:570, Animals, Humans, Point Mutation, Calcium Signaling, guanylate cyclase 1, genetics [Vision, Ocular], Vision, Ocular, enzymology [Synapses], metabolism [Rod Cell Outer Segment], Membrane Proteins, enzymology [Rod Cell Outer Segment], Rod Cell Outer Segment, enzymology [Retinal Degeneration], Enzyme Activation, Amino Acid Substitution, Guanylate Cyclase, Synapses, Mutagenesis, Site-Directed, genetics [Calcium Signaling], Cattle, Cyclase activity, metabolism [Membrane Proteins]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a097ba0323471a2550609e0ae0d09beTest
https://doi.org/10.1021/bi001514dTest

المؤلفون: ROSSO, NATALIA CAROLINA, TIRIBELLI, CLAUDIO

المساهمون: Rosso, NATALIA CAROLINA, Tiribelli, Claudio

مصطلحات موضوعية: Humans Lipase/genetics* Liver Cirrhosis, Alcoholic/genetics* Membrane Proteins/genetics* Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24114814; volume:2013 Nov-Dec; issue:12(6); firstpage:860; lastpage:860; numberofpages:1; journal:ANNALS OF HEPATOLOGY; http://hdl.handle.net/11368/2859076Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84890064065; http://www.ncbi.nlm.nih.gov/pubmed/24114814Test

الإتاحة: http://hdl.handle.net/11368/2859076Test
http://www.ncbi.nlm.nih.gov/pubmed/24114814Test

المؤلفون: Fumio Takahashi, Gaia Tavosanis, Atsushi Sugie, Sandra Berger-Müller, Satoko Hakeda-Suzuki, Takashi Suzuki

المصدر: PLoS ONE
PLoS One
PLOS ONE 8(12), e83732 (2013). doi:10.1371/journal.pone.0083732
PLoS ONE, Vol 8, Iss 12, p e83732 (2013)

مصطلحات موضوعية: Science, Synaptogenesis, Gene Expression, Neurotransmission, Biology, metabolism [Axons], Synaptic Transmission, Presynapse, Synapse, Animals, Genetically Modified, Axon terminal, medicine, Animals, ddc:610, Axon, Multidisciplinary, Synaptic pharmacology, Membrane Proteins, Axons, Cell biology, genetics [Membrane Proteins], medicine.anatomical_structure, physiology [Synaptic Transmission], Medicine, Axon guidance, Drosophila, Photoreceptor Cells, Invertebrate, physiology [Photoreceptor Cells, Invertebrate], physiology [Drosophila], metabolism [Membrane Proteins], Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b7b563a6d3c0034cd60185d5a795855Test
https://pubmed.ncbi.nlm.nih.gov/24386266Test

المؤلفون: Eeva-Liisa Eskelinen, Jürgen Wienands, Paul Saftig, Renate Lüllmann-Rauch, Michael Engelke, Kai Dittmann, Ralf Dressel, Bernd Schröder, Susann Hüttl, Regina Fluhrer, Irm Hermans-Borgmeyer, Janna Schneppenheim

المساهمون: Biosciences, Autophagy

المصدر: Journal of experimental medicine 210(1), 41-58 (2012). doi:10.1084/jem.20121069
Journal of Experimental Medicine; Vol 210
The Journal of Experimental Medicine

مصطلحات موضوعية: Endocytic cycle, physiology [B-Lymphocytes], SPPL2a protein, mouse, Mice, 0302 clinical medicine, metabolism [B-Lymphocyte Subsets], Immunology and Allergy, metabolism [Peptide Fragments], Aspartic Acid Endopeptidases, genetics [Cell Survival], Cells, Cultured, B-Lymphocytes, 0303 health sciences, biology, immunology [B-Lymphocytes], metabolism [Aspartic Acid Endopeptidases], Cell biology, genetics [B-Cell Activation Factor Receptor], genetics [Membrane Proteins], Protein Transport, medicine.anatomical_structure, pathology [B-Lymphocytes], metabolism [Antigens, Differentiation, B-Lymphocyte], genetics [Immunity, Humoral], metabolism [Endosomes], genetics [Antigens, Differentiation, B-Lymphocyte], Cell Survival, Endosome, Intramembrane protease, Immunology, B-cell receptor, Molecular Sequence Data, education, B-Lymphocyte Subsets, Endosomes, ultrastructure [B-Lymphocytes], Regulated Intramembrane Proteolysis, Article, Presenilin, metabolism [B-Cell Activation Factor Receptor], invariant chain, 03 medical and health sciences, medicine, Animals, Humans, ddc:610, B cell, 030304 developmental biology, metabolism [Vacuoles], Base Sequence, Histocompatibility Antigens Class II, Membrane Proteins, Tnfrsf13c protein, mouse, Mice, Mutant Strains, Peptide Fragments, Immunity, Humoral, Mice, Inbred C57BL, Antigens, Differentiation, B-Lymphocyte, genetics [Aspartic Acid Endopeptidases], Vacuoles, biology.protein, 1182 Biochemistry, cell and molecular biology, metabolism [Histocompatibility Antigens Class II], Cytokinesis, metabolism [Membrane Proteins], 030215 immunology, genetics [Histocompatibility Antigens Class II], B-Cell Activation Factor Receptor

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c8dd418de64d7694178a8d6a5818c82Test
http://hdl.handle.net/10138/42725Test