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1دورية أكاديمية
المؤلفون: Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger
المصدر: American Journal of Human Genetics. 108(6)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Cell Movement, Child, Child, Preschool, Drosophila, Female, Fibroblasts, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Mice, Knockout, Neoplasm Proteins, Neurodevelopmental Disorders, Pedigree, Proteome, Young Adult, Care4Rare Canada Consortium, Genomics England Research Consortium, BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7rn0f207Test
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2دورية أكاديمية
المؤلفون: Lindig, Tobias, Ruff, Christer, Rattay, Tim W, König, Stephan, Schöls, Ludger, Schüle, Rebecca, Nägele, Thomas, Ernemann, Ulrike, Klose, Uwe, Bender, Benjamin
المصدر: NeuroImage: Clinical 36, 103213 (2022). doi:10.1016/j.nicl.2022.103213
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Humans, Young Adult, Adult, Middle Aged, Aged, Diffusion Tensor Imaging: methods, Prospective Studies, White Matter: diagnostic imaging, White Matter: pathology, Anisotropy, Pyramidal Tracts: diagnostic imaging, Fractional anisotropy, Hereditary spastic paraplegia, Pyramidal degeneration, Radial diffusivity, Spinal diffusion tensor imaging
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/2213-1582; info:eu-repo/semantics/altIdentifier/pmid/pmid:36270162; https://pub.dzne.de/record/165324Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01602%22Test
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3دورية أكاديمية
المؤلفون: Husain, Ralf A., Grimmel, Mona, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Wagner, Matias, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Hennings, J. Christopher, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Marx, Christian, Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B., Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea
المصدر: The American journal of human genetics 107(2), 364 - 373 (2020). doi:10.1016/j.ajhg.2020.06.015
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Adolescent, Adult, Alleles, Amino Acid Sequence, Brain Diseases: genetics, Child, Female, Humans, Male, Mitochondria: genetics, Mitochondrial Proteins: genetics, Neurodegenerative Diseases: genetics, Pedigree, Phenotype, Spastic Paraplegia, Hereditary: genetics, Young Adult
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:32707086; info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; https://pub.dzne.de/record/153347Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-01344%22Test
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4
المؤلفون: Groeschel, Samuel, Hagberg, Gisela E., Schultz, Thomas, Balla, Dávid Z., Klose, Uwe, Hauser, Till-Karsten, Nägele, Thomas, Bieri, Oliver, Prasloski, Thomas, MacKay, Alex L., Krägeloh-Mann, Ingeborg, Scheffler, Klaus
المصدر: PLoS ONE, Vol 11, Iss 11, p e0167274 (2016)
PLoS ONEمصطلحات موضوعية: Central Nervous System, Male, Macroglial Cells, lcsh:Medicine, Nervous System, Diagnostic Radiology, Nerve Fibers, Materials Physics, Animal Cells, Medicine and Health Sciences, Image Processing, Computer-Assisted, Child, lcsh:Science, Microstructure, Myelin Sheath, Neurons, Brain Mapping, Radiology and Imaging, Physics, Brain, Condensed Matter Physics, Magnetic Resonance Imaging, White Matter, Diffusion Tensor Imaging, Physical Sciences, Female, Anatomy, Cellular Types, Research Article, Adult, Histology, Adolescent, Imaging Techniques, Brain Morphometry, Materials Science, Material Properties, Neuroimaging, Glial Cells, Research and Analysis Methods, Young Adult, Diagnostic Medicine, Humans, lcsh:R, Biology and Life Sciences, Cell Biology, Axons, Cellular Neuroscience, Anisotropy, lcsh:Q, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4ac783f9c1e49a08cf0097e38d78ec7cTest
http://europepmc.org/articles/PMC5127571?pdf=renderTest -
5دورية أكاديمية
المؤلفون: Bender, Benjamin, Klose, Uwe, Lindig, Tobias, Biskup, Saskia, Nägele, Thomas, Schöls, Ludger, Karle, Kathrin N
المصدر: Journal of neurology 261(12), 2351-2359 (2014). doi:10.1007/s00415-014-7509-2
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Brain: pathology, Diffusion Magnetic Resonance Imaging, Female, Frontal Lobe: pathology, Heterozygote, Humans, Leukoencephalopathies: diagnosis, Leukoencephalopathies: genetics, Leukoencephalopathies: pathology, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Middle Aged, Mutation, Parietal Lobe: pathology, Receptor, Macrophage Colony-Stimulating Factor: genetics, White Matter: pathology, Macrophage Colony-Stimulating Factor
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/0939-1517; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/1619-800X; info:eu-repo/semantics/altIdentifier/pmid/pmid:25239393; info:eu-repo/semantics/altIdentifier/issn/0012-1037; https://pub.dzne.de/record/137653Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03975%22Test
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6دورية أكاديمية
المؤلفون: Karle, Kathrin N, Biskup, Saskia, Schüle, Rebecca, Schweitzer, Katherine J, Krüger, Rejko, Bauer, Peter, Bender, Benjamin, Nägele, Thomas, Schöls, Ludger
المصدر: Neurology 81(23), 2039-2044 (2013). doi:10.1212/01.wnl.0000436945.01023.ac
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Female, Humans, Leukoencephalopathies: diagnosis, Leukoencephalopathies: genetics, Male, Middle Aged, Mutation: genetics, Young Adult
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:24198292; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/137249Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03571%22Test
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7دورية أكاديمية
المؤلفون: Synofzik, Matthis, Beetz, Christian, Bauer, Peter, Bauer, Claudia, Bonin, Michael, Sanchez-Ferrero, Elena, Schmitz-Hübsch, Tanja, Wüllner, Ullrich, Nägele, Thomas, Riess, Olaf, Schöls, Ludger
المصدر: Journal of medical genetics 48(6), 407-412 (2011). doi:10.1136/jmg.2010.087023
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Alleles, Exons, Female, Gene Frequency, Genetic Association Studies, Genetic Testing, Genotype, Germany, Humans, Inositol 1,4,5-Trisphosphate Receptors: genetics, Male, Nucleic Acid Amplification Techniques, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Sequence Deletion, Spinocerebellar Ataxias: diagnosis, Spinocerebellar Ataxias: epidemiology, Spinocerebellar Ataxias: genetics, ITPR1 protein, human, Inositol 1,4,5-Trisphosphate Receptors
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1468-6244; info:eu-repo/semantics/altIdentifier/pmid/pmid:21367767; info:eu-repo/semantics/altIdentifier/issn/0022-2593; https://pub.dzne.de/record/136239Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-02561%22Test
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8دورية أكاديمية
المؤلفون: Schulz, Jörg Bernhard, Borkert, Johannes, Wolf, Stefanie, Schmitz-Hübsch, T, Rakowicz, M, Mariotti, Christian, Schoels, Ludger, Timmann, D, van de Warrenburg, B P, Dürr, Alexandra, Pandolfo, Massimo, Kang, J-S, Mandly, Andrés González, Nägele, Thomas, Grisoli, Marina, Boguslawska, Romana, Bauer, Peter, Klockgether, T, Hauser, Till-Karsten
المصدر: NeuroImage, 49 (1
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adolescent, Adult, Age of Onset, Aged, Atrophy -- pathology, Brain -- pathology, Brain Stem -- pathology, Cerebellum -- pathology, DNA -- genetics, Diagnosis, Differential, Disease Progression, Female, Humans, Huntington Disease -- pathology, Linear Models, Magnetic Resonance Imaging, Male, Middle Aged, Repetitive Sequences, Nucleic Acid, Sex Characteristics, Spinocerebellar Ataxias -- diagnosis, Spinocerebellar Ataxias -- genetics, Spinocerebellar Ataxias -- pathology, Young Adult, Repeat length, Spinocerebellar ataxia, Volumetry
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.1016/j.neuroimage.2009.07.027; uri/info:pii/S1053-8119(09)00800-3; uri/info:pmid/19631275; uri/info:scp/70349962976; https://dipot.ulb.ac.be/dspace/bitstream/2013/51459/1/Elsevier_26551.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51459Test
