المؤلفون: Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar

المصدر: http://lobid.org/resources/99370678534106441Test#!, 99(12):1755-1768.

مصطلحات موضوعية: Adolescent [MeSH], Female [MeSH], Functional protein domains, Neurodevelopmental disorders, Humans [MeSH], Whole Exome Sequencing [MeSH], Tyrosine-tRNA Ligase/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Protein Conformation [MeSH], Original Article, Male [MeSH], Novel disease genes, Multisystem diseases, Aminoacyl-tRNA synthetases (ARS1), Phenotype [MeSH], Child [MeSH], Phenotypic heterogeneity, Tyrosine-tRNA Ligase/chemistry [MeSH], Child, Preschool [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6448273Test; https://doi.org/10.1007/s00109-021-02124-9Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599376Test/

الإتاحة: https://doi.org/10.1007/s00109-021-02124-9Test
https://repository.publisso.de/resource/frl:6448273Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599376Test/

المؤلفون: Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John

المصدر: http://lobid.org/resources/99370674607706441Test#!, 66(12):1159-1167.

مصطلحات موضوعية: Microtubule-Associated Proteins/chemistry [MeSH], Neurodevelopmental Disorders/diagnosis [MeSH], Structure-Activity Relationship [MeSH], Cilia/metabolism [MeSH], DNA Mutational Analysis [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Protein Conformation [MeSH], Models, Molecular [MeSH], Microtubule-Associated Proteins/metabolism [MeSH], Malformations of Cortical Development/diagnosis [MeSH], Male [MeSH], Phenotype [MeSH], Child [MeSH], Fibroblasts/metabolism [MeSH], Malformations of Cortical Development/genetics [MeSH], Genetic Association Studies/methods [MeSH], Genetic Predisposition to Disease [MeSH], Homozygote [MeSH], Consanguinity [MeSH], Brain/diagnostic imaging [MeSH], Neurodevelopmental disorders, Brain/abnormalities [MeSH], Humans [MeSH], Exome Sequencing [MeSH], Article, Pedigree [MeSH], Alleles [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6443902Test; https://doi.org/10.1038/s10038-021-00947-5Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930Test/

الإتاحة: https://doi.org/10.1038/s10038-021-00947-5Test
https://repository.publisso.de/resource/frl:6443902Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930Test/

المؤلفون: Zweckstetter, Markus, Dityatev, Alexander, Ponimaskin, evgeni

المصدر: http://lobid.org/resources/99370677347406441Test#!, 6(1):243.

مصطلحات موضوعية: Crystallography, X-Ray [MeSH], Research Highlight, Humans [MeSH], Receptors, Serotonin/ultrastructure [MeSH], Serotonin Receptor Agonists/chemistry [MeSH], Serotonin/genetics [MeSH], Apoenzymes/genetics [MeSH], Protein Conformation [MeSH], Serotonin/chemistry [MeSH], Ligands [MeSH], Apoenzymes/chemistry [MeSH], Apoenzymes/ultrastructure [MeSH], Molecular neuroscience, Structural biology

العلاقة: https://repository.publisso.de/resource/frl:6442610Test; https://doi.org/10.1038/s41392-021-00668-3Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213774Test/

الإتاحة: https://doi.org/10.1038/s41392-021-00668-3Test
https://repository.publisso.de/resource/frl:6442610Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213774Test/

المؤلفون: Tanriöver, Gaye, Bacioglu, Mehtap, Schweighauser, Manuel, Mahler, Jasmin, Wegenast-Braun, Bettina M., Skodras, Angelos, Obermüller, Ulrike, Barth, Melanie, Kronenberg-Versteeg, Deborah, Nilsson, K. Peter R., Shimshek, Derya R., Kahle, Philipp J., Eisele, Yvonne S., Jucker, Mathias

المصدر: http://lobid.org/resources/99370678498306441Test#!, 8(1):133.

مصطلحات موضوعية: Conformation, Protein Aggregation, Pathological/metabolism [MeSH], Protein Conformation [MeSH], Mice, Transgenic [MeSH], Synuclein, Pathological/genetics [MeSH], Amyloid, Synucleinopathies/genetics [MeSH], Prion-like, alpha-Synuclein/genetics [MeSH], alpha-Synuclein/chemistry [MeSH], Disease Models, Animal [MeSH], Inclusion, Parkinson’s disease, Synucleinopathies/pathology [MeSH], Humans [MeSH], Microglia, Animals [MeSH], Pathological/pathology [MeSH], Inclusion Bodies/pathology [MeSH], Mice [MeSH], Microglia/pathology [MeSH], Research, Neurons/pathology [MeSH], alpha-Synuclein/metabolism [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6452342Test; https://doi.org/10.1186/s40478-020-00993-8Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425556Test/

الإتاحة: https://doi.org/10.1186/s40478-020-00993-8Test
https://repository.publisso.de/resource/frl:6452342Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425556Test/