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1دورية أكاديمية
المؤلفون: Keit Men Wong, Eike Wegener, Alireza Baradaran-Heravi, Brenda Huppke, Jutta Gärtner, Peter Huppke
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11665 (2023)
مصطلحات موضوعية: Rett syndrome, readthrough, aminoglycosides, nonsense suppression therapy, methyl-CpG-binding protein, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke
المصدر: PLoS ONE, Vol 9, Iss 12, p e115444 (2014)
وصف الملف: electronic resource
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المؤلفون: Michael P. Coleman, Jonathan Gilley, Giuseppe Orsomando, Alonso Barrantes-Freer, Jutta Gärtner, Carlo Angeletti, Peter Nürnberg, Eike Wegener, Holger Thiele, Joost P.H. Drenth, Ingo Kurth, Christine Stadelmann, Peter Huppke, Wolfgang Brück
المساهمون: Coleman, Michael [0000-0002-9354-532X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Wallerian degeneration, Mutation, Missense, Sural nerve, NMNAT2, Biology, Polyneuropathies, 03 medical and health sciences, 0302 clinical medicine, Erythromelalgia, Polyneuropathy, medicine, Humans, Missense mutation, Nicotinamide-Nucleotide Adenylyltransferase, Allele, Axon, 030304 developmental biology, Genetics, 0303 health sciences, Siblings, Homozygote, NAD, medicine.disease, Pedigree, medicine.anatomical_structure, nervous system, Mutation (genetic algorithm), Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::759f79923b039cd044ab9ff0202d70e6
https://doi.org/10.1101/610907 -
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المؤلفون: Peter Nürnberg, Eike Wegener, Alonso Barrantes-Freer, Peter Huppke, Michael P. Coleman, Wolfgang Brück, Giuseppe Orsomando, Jonathan Gilley, Holger Thiele, Joost P.H. Drenth, Christine Stadelmann, Ingo Kurth, Carlo Angeletti, Jutta Gärtner
المصدر: Experimental Neurology, 320
مصطلحات موضوعية: 0301 basic medicine, Wallerian degeneration, Mutation, Missense, Sural nerve, Biology, Polyneuropathies, 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Developmental Neuroscience, Erythromelalgia, medicine, Humans, Missense mutation, Nicotinamide-Nucleotide Adenylyltransferase, Axon, Allele, Genetics, Siblings, Homozygote, medicine.disease, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], nervous system, Neurology, Mutation (genetic algorithm), Female, Wallerian Degeneration, Polyneuropathy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Jieqi Wang, Jan Eike Wegener, Teng-Wei Huang, Smitha Sripathy, Hector De Jesus-Cortes, Pin Xu, Stephanie Tran, Whitney Knobbe, Vid Leko, Jeremiah Britt, Ruth Starwalt, Latisha McDaniel, Ch
المصدر: Nature, Nature. 521(7552):1-4
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المؤلفون: Eike Wegener, Valery Belakhov, Jutta Gärtner, Cornelia Brendel, Peter Huppke, Hauke B. Werner, Timor Baasov, Igor Nudelman
المصدر: Journal of Molecular Medicine
Journal of Molecular Medicine (Berlin, Germany)مصطلحات موضوعية: Male, Methyl-CpG-Binding Protein 2, viruses, Mutant, DNA binding, Drug development, Knockout, Mutation, Molecular therapy, Pediatrics, medicine.disease_cause, Mice, 0302 clinical medicine, Gene Order, Drug Discovery, Genetics(clinical), Gene Knock-In Techniques, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, Aminoglycoside, Transfection, 3. Good health, Codon, Nonsense, Molecular Medicine, Female, Original Article, Genetic Vectors, Nonsense mutation, Mice, Transgenic, Biology, MECP2, 03 medical and health sciences, Rett Syndrome, medicine, Animals, Humans, Gene, Embryonic Stem Cells, 030304 developmental biology, fungi, Fibroblasts, Molecular biology, Fusion protein, Mice, Inbred C57BL, Disease Models, Animal, Biomedicine, Human Genetics, Internal Medicine, Aminoglycosides, Gene Expression Regulation, 030217 neurology & neurosurgery, HeLa Cells
وصف الملف: application/pdf
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المؤلفون: Andrew A. Pieper, Sébastien Vigneau, Latisha McDaniel, Joanna L. Jankowsky, Min Fang, Diana C. Parra, Sybille D. Reichardt, Irwin D. Bernstein, Stephanie Tran, Daniel J. Brat, Yue Yang, Jeffrey L. Neul, David A. Flowers, Marisa S. Bartolomei, Margaret A. Goodell, Teng-Wei Huang, Smitha Sripathy, Peter Huppke, Julia Kozlitina, Jeremiah K. Britt, Uyen Lao, Jutta Gärtner, C. Dirk Keene, Ruth Starwalt, Sean M Cullen, Keith R. Loeb, Antonio Bedalov, Pin Xu, Whitney Knobbe, Héctor De Jesús-Cortés, Benjamin Newcomb, Christopher S. Ward, Jan Eike Wegener, Holger M. Reichardt, Jieqi Wang, Vid Leko, Michael J. Yetman, Nikolas L. Jorstad, Lena Glaskova, Cynthia Nourigat
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, Rett syndrome, Biology, Article, MECP2, Neurodevelopmental disorder, mental disorders, Rett Syndrome, medicine, Animals, Phenocopy, Multidisciplinary, Microglia, Wild type, medicine.disease, nervous system diseases, 3. Good health, Transplantation, medicine.anatomical_structure, surgical procedures, operative, Immunology, Disease Progression, Female, Bone marrow
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cc568ddc5cea00abaf6ba61319658a
https://europepmc.org/articles/PMC4684952/ -
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المؤلفون: Jutta Gärtner, Hanno J. Bolz, Eike Wegener, Helena Böhrer-Rabel, Barbara Zoll, Peter Huppke, Carsten Bergmann
المصدر: European journal of human genetics : EJHG. 23(5)
مصطلحات موضوعية: Male, Genotype, DNA Mutational Analysis, Biology, Gene mutation, Bioinformatics, Ciliopathies, Joubert syndrome, Retina, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Nephronophthisis, Cerebellum, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), 030304 developmental biology, Sequence (medicine), Adaptor Proteins, Signal Transducing, 0303 health sciences, Coloboma, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Magnetic Resonance Imaging, Radiography, Phenotype, Mutation, Female, Apoptosis Regulatory Proteins, Tooth, 030217 neurology & neurosurgery, Cerebellar Vermis
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المؤلفون: Eike, Wegener, Cornelia, Brendel, Andre, Fischer, Swen, Hülsmann, Jutta, Gärtner, Peter, Huppke
المصدر: PLOS ONE 9(12), e115444 (2014). doi:10.1371/journal.pone.0115444
PLoS ONE, Vol 9, Iss 12, p e115444 (2014)
PLoS ONEمصطلحات موضوعية: Male, Heredity, Genetic Linkage, Methyl-CpG-Binding Protein 2, lcsh:Medicine, Translational Research, Biomedical, Mice, Sex Factors, Analysis of variance, Animal behavior, Apnea, Biological locomotion, Breathing, Mouse models, Rett syndrome, Rett Syndrome, Genetics, Medicine and Health Sciences, Animals, Humans, ddc:610, Gene Knock-In Techniques, lcsh:Science, Translational Medical Research, Clinical Genetics, physiopathology [Rett Syndrome], lcsh:R, genetics [Methyl-CpG-Binding Protein 2], Biology and Life Sciences, Disease Models, Animal, Phenotype, Sex Linkage, X-Linked Traits, Codon, Nonsense, Mecp2 protein, mouse, genetics [Rett Syndrome], lcsh:Q, Female, pathology [Rett Syndrome], Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8a9bbcd7c3f41ba801011401a7d59b77
http://resolver.sub.uni-goettingen.de/purl?gs-1/11433 -
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المؤلفون: Mateusz, Kolanczyk, Victor, Mautner, Nadine, Kossler, Rosa, Nguyen, Jirko, Kühnisch, Tomasz, Zemojtel, Aleksander, Jamsheer, Eike, Wegener, Boris, Thurisch, Sigrid, Tinschert, Nikola, Holtkamp, Su-Jin, Park, Patricia, Birch, David, Kendler, Anja, Harder, Stefan, Mundlos, Lan, Kluwe
المصدر: BMC Medicine
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Extracellular Matrix Proteins, Neurofibromatosis 1, Adolescent, Middle Aged, nervous system diseases, Neoplasm Proteins, Tumor Burden, Mice, Inbred C57BL, Disease Models, Animal, Mice, Young Adult, Biomarkers, Tumor, Animals, Humans, Female, neoplasms, Aged, Research Article