المؤلفون: Sofia Schnell, Ellen Knierim, Petra Bittigau, Jakob Kreye, Kathrin Hauptmann, Patrick Hundsdoerfer, Susanne Morales-Gonzalez, Markus Schuelke, Marc Nikolaus

المصدر: Cells, Vol 12, Iss 4, p 606 (2023)

مصطلحات موضوعية: metabotropic glutamate 5 receptor, anti-mGluR5 encephalitis, neuroimmunology, pediatric neurology, pediatric oncology, transcriptome analysis, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/4/606; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/8a94bf16e76848528787c045242974b5

المؤلفون: Ellen Knierim, Barbara Lucke, Jana Marie Schwarz, Markus Schuelke, Dominik Seelow

المصدر: PLoS ONE, Vol 6, Iss 11, p e28240 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22140562/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6e3d7d130cb44204ae24126e3ab13354

المؤلفون: Ingeborg Viezens, Ellen Knierim, Hedwig E. Deubzer, Kathrin Hauptmann, Jessica Fassbender, Susanne Morales-Gonzalez, Angela M. Kaindl, Markus Schuelke, Marc Nikolaus

المصدر: Cancers, Vol 16, Iss 13, p 2452 (2024)

مصطلحات موضوعية: pediatric Hodgkin lymphoma, autoimmune encephalitis, Ophelia syndrome, mGluR5, paraneoplastic neurological syndromes, EBV-positive HL, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/16/13/2452; https://doaj.org/toc/2072-6694; https://doaj.org/article/bb5e110f71e34046bfa662cfe707ab6d

الاتاحة: https://doi.org/10.3390/cancers16132452
https://doaj.org/article/bb5e110f71e34046bfa662cfe707ab6d

المؤلفون: Sarah Paisdzior, Ellen Knierim, Gunnar Kleinau, Heike Biebermann, Heiko Krude, Rachel Straussberg, Markus Schuelke

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 10; Pages: 5338

مصطلحات موضوعية: thyroid hormone receptor alpha, resistance to thyroid hormones, gain-of-function, gain-of-antagonistic function

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22105338

الاتاحة: https://doi.org/10.3390/ijms22105338

المؤلفون: Annegret Quade, Kevin Rostasy, Ronny Wickström, Ömer Faruk Aydin, Stefano Sartori, Margherita Nosadini, Ellen Knierim, Gerhard Kluger, Rudolf Korinthenberg, Burkhard Stüve, Stephan Waltz, Steffen Leiz, Martin Häusler

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e1d28b264b2616fcc3c0cd76d8ba41
https://hdl.handle.net/11577/3464522

المؤلفون: David Süßmuth, Ellen Knierim, Claudia Castiglioni, Enrico Bertini, Laurie D. Smith, Omid Aryani, Markus Buelow, Werner Stenzel, Markus Schuelke

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Male, Genotype, Severe muscular hypotonia, Choreoathetosis, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Neurodevelopmental disorder, Genetics research, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Myopathy, Child, Genetics (clinical), Exome sequencing, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Disease genetics, 030305 genetics & heredity, Genetic Variation, Spectrin, Electroencephalography, Sequence Analysis, DNA, medicine.disease, Immunohistochemistry, Hypotonia, Pedigree, Phenotype, Child, Preschool, Face, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daba716165f373b95e04ccab6fc9f715
http://europepmc.org/articles/PMC8298470

المؤلفون: Monika Berns, Angela M. Kaindl, Barbara A. Zieba, Tilmann Kallinich, Frédéric Ebstein, Manuela Theophil, Banu Orak, Axel Panzer, Elke Krüger, Gonza Ngoumou, Carl Christoph Goetzke, Christian Meisel, Nadine Unterwalder, Ellen Knierim

المصدر: Pediatric Allergy and Immunology. 32:621-625

مصطلحات موضوعية: Dystonia, Pathology, medicine.medical_specialty, business.industry, Macrophages, Immunology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Atrophy, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Basal ganglia, Humans, Immunology and Allergy, Medicine, Aicardi–Goutières syndrome, 030212 general & internal medicine, Spasticity, medicine.symptom, business, Biomarkers, RNASEH2A, Calcification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f109475c01d83d67009fc8878b7f20f
https://doi.org/10.1111/pai.13400

المؤلفون: Marc Nikolaus, Fabienne Kühne, Anna Tietze, Julia Thumfart, Caroline Kempf, Alexander Gratopp, Ellen Knierim, Petra Bittigau, Angela M. Kaindl

المصدر: Journal of child neurology. 37(6)

مصطلحات موضوعية: Plasma Exchange, Pediatrics, Perinatology and Child Health, Encephalomyelitis, Acute Disseminated, Humans, Immunoglobulins, Intravenous, Neurology (clinical), Child, Guillain-Barre Syndrome, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b17aabc39346c43bc3407908407d4c54
https://pubmed.ncbi.nlm.nih.gov/35435761

المؤلفون: Eva Maria Wendel, Helen Sophie Thonke, Annikki Bertolini, Matthias Baumann, Astrid Blaschek, Andreas Merkenschlager, Michael Karenfort, Barbara Kornek, Christian Lechner, Daniela Pohl, Martin Pritsch, Kathrin Schanda, Mareike Schimmel, Charlotte Thiels, Stephan Waltz, Gert Wiegand, Banu Anlar, Nina Barisic, Christian Blank, Markus Breu, Philip Broser, Adela Della Marina, Katharina Diepold, Matthias Eckenweiler, Astrid Eisenkölbl, Michael Freilinger, Ursula Gruber-Sedlmayr, Annette Hackenberg, Tobias Iff, Ellen Knierim, Johannes Koch, Georg Kutschke, Steffen Leiz, Grischa Lischetzki, Margherita Nosadini, Alexander Pschibul, Edith Reiter-Fink, Doris Rohrbach, Michela Salandin, Stefano Sartori, Jan-Ulrich Schlump, Johannes Stoffels, Jurgis Strautmanis, Daniel Tibussek, Victoria Tüngler, Norbert Utzig, Markus Reindl, Kevin Rostásy

مصطلحات موضوعية: Optic Neuritis, Neurology, Immunoglobulin G, Encephalomyelitis, Acute Disseminated, Neuromyelitis Optica, Medizin, Humans, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), ddc:610, Prospective Studies, Syndrome, Neoplasm Recurrence, Local

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739badd39828cef45bb1bd3d033db133
https://www.ncbi.nlm.nih.gov/pubmed/36229191

المؤلفون: Ellen Knierim, Fabienne Kuehne, Petra Bittigau, Alexander Gratopp, Angela M. Kaindl, Marc Nikolaus, Anna Tietze

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Immune system, Zipper, business.industry, Treatment options, Medicine, Bioinformatics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af6fef93874ede10fb69712037a24559
https://doi.org/10.1055/s-0041-1739635

المؤلفون: Anna Tietze, Angela M. Kaindl, Werner Stenzel, Marc Nikolaus, Markus Schuelke, Leonille Schweizer, Ellen Knierim

المصدر: Brain and Development. 41:901-904

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Adolescent, Fulminant, Encephalopathy, MELAS syndrome, DNA, Mitochondrial, Short stature, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Mitochondrial myopathy, MELAS Syndrome, medicine, Humans, Venous Thrombosis, business.industry, Mitochondrial Myopathies, Muscle weakness, General Medicine, medicine.disease, Cerebral Veins, Venous thrombosis, Lactic acidosis, Mutation, Pediatrics, Perinatology and Child Health, Vomiting, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10bc449e3c43dbfd30bbf66108150178
https://doi.org/10.1016/j.braindev.2019.07.002

المؤلفون: Christian Meisel, Manuela Theophil, Gonza Ngoumou, Carl Christoph Goetzke, Monika Berns, Angela M. Kaindl, Elke Krüger, Banu Orak, Tilmann Kallinich, Barbara A. Zieba, Frédéric Ebstein, Nadine Unterwalder, Axel Panzer, Ellen Knierim

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a029e8c2586357dc68abae6340b9760
https://doi.org/10.1111/pai.13400/v2/response1

المؤلفون: Christian Meisel, Markus Reindl, Marc Nikolaus, Angela M. Kaindl, Markus Schuelke, Harald Prüss, Jakob Kreye, Ellen Knierim

المصدر: European journal of paediatric neurology 28, 159-166 (2020). doi:10.1016/j.ejpn.2020.07.004

مصطلحات موضوعية: Male, Adolescent, Clinical Neurology, Immunofluorescence, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Antigen, immunology [Autoimmune Diseases], Central Nervous System Diseases, 030225 pediatrics, medicine, Animals, Humans, ddc:610, Pediatrics, Perinatology, and Child Health, Child, immunology [Central Nervous System Diseases], Autoantibodies, Retrospective Studies, Autoimmune encephalitis, biology, medicine.diagnostic_test, business.industry, Autoantibody, Infant, Newborn, Infant, General Medicine, medicine.disease, cerebrospinal fluid [Autoantibodies], cerebrospinal fluid [Autoimmune Diseases], cerebrospinal fluid [Biomarkers], Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, cerebrospinal fluid [Central Nervous System Diseases], Etiology, biology.protein, Female, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, Encephalitis, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7701ec40182c03337a74c44b5356d4a8

المؤلفون: Markus Breu, Eva-Maria Wendel, Markus Reindl, Renate Peters, Christian Lechner, Romana Höftberger, Özcan Sönmez, Matthias Baumann, Edith Reiter-Fink, Ellen Knierim, Frank Leypoldt, Adela Della Marina, Claudia Roll, M. Piepkorn, Robert Cleaveland, Annikki Bertolini, Martin Häusler, Andreas Wegener-Panzer, Kevin Rostasy

المصدر: Neurology® Neuroimmunology & Neuroinflammation

مصطلحات موضوعية: Male, Adolescent, Encephalopathy, Medizin, Article, Myelin oligodendrocyte glycoprotein, White matter, Autoimmune Diseases of the Nervous System, CSF pleocytosis, Modified Rankin Scale, medicine, Humans, Prospective Studies, Child, Focal neurologic signs, Autoantibodies, Autoimmune encephalitis, biology, business.industry, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, nervous system, Child, Preschool, Immunology, biology.protein, Encephalitis, Female, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6d91f5fe807fd857592b08d62968ff
http://europepmc.org/articles/PMC7217659

المؤلفون: Daniel J. Salchow, Joanna Schneider, Werner Stenzel, Susanne Morales-Gonzalez, Markus Schuelke, Akio Kihara, Takayuki Sassa, Ellen Knierim, Dominik Seelow, Noomi Mueller

المصدر: Journal of Medical Genetics. 56:164-175

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Ceramide, Mutation, Ichthyosis, Peroxisome proliferator-activated receptor, 030105 genetics & heredity, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, Atrophy, chemistry, Genetics, medicine, Sphingomyelin, Acanthosis nigricans, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b216458bf00ae1deac35245ca0aadc92
https://doi.org/10.1136/jmedgenet-2018-105711

المؤلفون: Axel Panzer, Alice Lejeune, Angela M. Kaindl, Ellen Knierim, Christine Prager, Petra Bittigau, Deniz A. Atalay, Benedikt Weißbrich

المصدر: Neuropediatrics.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, business, medicine.disease, Subacute sclerosing panencephalitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7e5e78ceb08014d01c2da6747089350f
https://doi.org/10.1055/s-0039-1698197

المؤلفون: Ellen Knierim, Markus Blankenburg, Johannes Stoffels, Stephan Krohn, Mareike Schimmel, Andrea Berger, Ronny Wickström, Oliver Hendricks, Marc Nikolaus, Carsten Finke, Markus Breu, Frederik Bartels, Gerd Kurlemann, Angela M. Kaindl, G. Bernert, Jessika Johannsen, Kevin Rostasy, Martin Häusler

المصدر: Annals of neurologyReferences. 88(1)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Rate ratio, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, ddc:610, Child, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, medicine.diagnostic_test, business.industry, Brain, Infant, Magnetic resonance imaging, Odds ratio, Prognosis, Magnetic Resonance Imaging, White Matter, Confidence interval, Hyperintensity, 030104 developmental biology, medicine.anatomical_structure, Neurology, Child, Preschool, Brain size, Cohort, Female, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe887e85cbf9644dece7a135d16bec2
https://pubmed.ncbi.nlm.nih.gov/32314416

المؤلفون: Ellen Knierim, Tilmann Kallinich, Frédéric Ebstein, Nadine Unterwalder, Angela M. Kaindl, Barbara A. Zieba, Elke Krüger, Christian Meisel, Manuela Theophil, Marc Nikolaus, Banu Orak, Axel Panzer

المصدر: Abstracts Accepted for Publication.

مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, medicine.diagnostic_test, business.industry, Monocyte, Arthritis, Reference range, medicine.disease, Corpus callosum, Gastroenterology, Rheumatology, medicine.anatomical_structure, Interferon, Internal medicine, Medicine, business, Genetic testing, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d4cefd96bf6f117273a43204a27557e3
https://doi.org/10.1136/annrheumdis-2019-eular.5506

المؤلفون: Markus Schuelke, Zoltan Lukacs, Thomas F. Wienker, Esther Gill, Ellen Knierim, Luciana Musante, Hans-Hilger Ropers, Christoph Hübner, Hao Hu

المصدر: European journal of human genetics

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Short Report, Genes, Recessive, Biology, Klüver–Bucy syndrome, Mucopolysaccharidosis III, 03 medical and health sciences, 0302 clinical medicine, Acetyltransferases, Genetic linkage, Molecular genetics, Genetics, Lysosomal storage disease, medicine, Humans, Exome, Child, Genetics (clinical), Mucopolysaccharidosis Type IIIC, Siblings, Homozygote, Cytogenetics, medicine.disease, Phenotype, 030104 developmental biology, Kluver-Bucy Syndrome, Medical genetics, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581aaf0777a5541394c47643f531b0ec
https://doi.org/10.1038/ejhg.2016.149

المؤلفون: Markus Schuelke, Tomasz Zemojtel, Werner Stenzel, Denise Horn, Björn Fischer-Zirnsak, Bernhard Weschke, Ellen Knierim

المصدر: American Journal of Medical Genetics Part A. 170:2274-2281

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, Mutation, business.industry, BRAT1, Heterozygote advantage, Postnatal microcephaly, Bioinformatics, Compound heterozygosity, medicine.disease, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Epilepsy, 030104 developmental biology, 0302 clinical medicine, symbols, Medicine, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::091e49c77c3ec54631a0d50bf2312611
https://doi.org/10.1002/ajmg.a.37798