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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: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian, Peter Huppke
المصدر: Brain. 145:3022-3034
مصطلحات موضوعية: Phenotype, Mutation, Microcephaly, Humans, Neurodegenerative Diseases, Transcription Factor TFIID, RNA Polymerase II, Neurology (clinical), Atrophy, Child, TATA-Box Binding Protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::384408924bf50d89dca1c5f5caab2ddb
https://doi.org/10.1093/brain/awac154 -
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المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: business.industry, Medicine, business, Molecular biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6e1b4c35f4dc1b7c4387764c0e7c484
https://doi.org/10.1055/s-0041-1739694 -
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المؤلفون: Brenda Huppke, H.-M. Hummel, Jutta Gärtner, Wiebke Stark, Peter Huppke
المصدر: Neuropediatrics. 48:S1-S45
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Pathology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, Disease progression, Medicine, Neurology (clinical), General Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2a2b3b0f856dfdee520942f7b1508d71
https://doi.org/10.1055/s-0037-1602916 -
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المؤلفون: Wiebke Stark, David Ellenberger, Peter Huppke, Jutta Gärtner, Hannah Hummel, M. Röbl, Brenda Huppke
المصدر: JAMA Neurol
مصطلحات موضوعية: 2. Zero hunger, Percentile, medicine.medical_specialty, Expanded Disability Status Scale, business.industry, Interferon beta-1a, Retrospective cohort study, Odds ratio, Overweight, medicine.disease, Obesity, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, 10. No inequality, business, Body mass index, 030217 neurology & neurosurgery, medicine.drug, Original Investigation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe75df02fa6ff73bd0ba62bc4b85d29
https://europepmc.org/articles/PMC6632118/ -
7FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy
المؤلفون: Peter Huppke, Fatima Almusafri, Martina Krusen, Susann Weissbach, Amber Begtrup, Janine Altmüller, Holger Thiele, Joseph A. Church, Annika Wolf, Peter Nürnberg, Francisca Millan, Nikolaus Kühn-Velten, Steffi Dreha-Kulaczewski, Jutta Gärtner, Rhonda E. Schnur, Michael Müller, Brenda Huppke
المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Leukoencephalopathy, Pediatrics, medicine.medical_specialty, business.industry, medicine, Neurological disorder, medicine.disease, business, NFE2L2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1c6d7f938114d08932d1de84e9dad31
https://doi.org/10.1055/s-0038-1675914 -
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المؤلفون: David Ellenberger, Brenda Huppke, Wolfgang Brück, Peter Huppke, Wiebke Stark, Hannah Hummel, Kevin Rostasy, Jutta Gärtner
المصدر: Multiple sclerosis (Houndmills, Basingstoke, England). 25(1)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Multiple Sclerosis, Adolescent, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Natalizumab, Recurrence, Internal medicine, parasitic diseases, Active disease, Outcome Assessment, Health Care, medicine, Humans, Immunologic Factors, 030212 general & internal medicine, 10. No inequality, Child, Retrospective Studies, business.industry, Fingolimod Hydrochloride, Multiple sclerosis, medicine.disease, Fingolimod, Magnetic Resonance Imaging, 3. Good health, Neurology, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589e0899f6a8d6647886a1193042e431
https://pubmed.ncbi.nlm.nih.gov/28933245 -
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المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)مصطلحات موضوعية: Male, Adolescent, NF-E2-Related Factor 2, Science, Developmental Disabilities, education, Mutation, Missense, digestive system, environment and public health, Article, Humans, lcsh:Science, Child, Binding Sites, Kelch-Like ECH-Associated Protein 1, Learning Disabilities, Immunologic Deficiency Syndromes, Brain, Infant, Syndrome, respiratory system, Magnetic Resonance Imaging, humanities, Failure to Thrive, Gene Expression Regulation, Mutation, lcsh:Q, Female
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المؤلفون: David Ellenberger, Hendrik Rosewich, Brenda Huppke, Jutta Gärtner, Tim Friede, Peter Huppke
المصدر: European Journal of Neurology. 21:441-446
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Multiple Sclerosis, Adolescent, Disease, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Optic neuritis, Sensory symptoms, Longitudinal Studies, Age of Onset, Child, 10. No inequality, First episode, business.industry, Multiple sclerosis, Age Factors, Cognition, medicine.disease, medicine.anatomical_structure, Neurology, Physical therapy, Sphincter, Female, Neurology (clinical), Presentation (obstetrics), business, 030217 neurology & neurosurgery