المؤلفون: Tanuja Chitnis, Angelo Ghezzi, Kumaran Deiva, Peter Huppke, Brenda Banwell, Lauren Krupp, Emmanuelle Waubant, Jutta Gaertner, Virginia DeLasHeras, Amin Azmon, Rajesh Karan

المصدر: BMJ Neurology Open, Vol 4, Iss 1 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://neurologyopen.bmj.com/content/4/1/e000215.full; https://doaj.org/toc/2632-6140

URL الوصول: https://doaj.org/article/860df43c8cbd41c3b813a5753b7ea96d

المؤلفون: Lara M. Marten, Ralph Krätzner, Gajja S. Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101053- (2024)

مصطلحات موضوعية: GAMT-deficiency, Neurometabolism, Neurodevelopmental disorder, MR-spectroscopy, Creatine-supplementation, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000065; https://doaj.org/toc/2214-4269; https://doaj.org/article/0af92ba593214a88806fa31c86bb9813

الاتاحة: https://doi.org/10.1016/j.ymgmr.2024.101053
https://doaj.org/article/0af92ba593214a88806fa31c86bb9813

المؤلفون: Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa

المصدر: Children; Volume 10; Issue 3; Pages: 595

مصطلحات موضوعية: multiple sulfatase deficiency (MS), ophthalmology, optical coherence tomography (OCT)

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/children10030595

الاتاحة: https://doi.org/10.3390/children10030595

المؤلفون: Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-21 (2023)

مصطلحات موضوعية: drug screening, formylglycine‐generating enzyme, lysosomal disorder, retinoids, sulfatase‐modifying factor 1, Medicine (General), R5-920, Genetics, QH426-470

Relation: https://doi.org/10.15252/emmm.202114837; https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684; https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4

الاتاحة: https://doi.org/10.15252/emmm.202114837
https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4

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

Relation: https://www.mdpi.com/1422-0067/24/14/11665; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/85a8729ddebb487894408e5ddba276a8

الاتاحة: https://doi.org/10.3390/ijms241411665
https://doaj.org/article/85a8729ddebb487894408e5ddba276a8

المؤلفون: Jost M. Kollmeier, Lukas Gürbüz-Reiss, Prativa Sahoo, Simon Badura, Ben Ellebracht, Mathilda Keck, Jutta Gärtner, Hans-Christoph Ludwig, Jens Frahm, Steffi Dreha-Kulaczewski

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1038/s41598-022-06361-x; https://doaj.org/toc/2045-2322; https://doaj.org/article/983f21c04f1a42d2ac1d363ac34522e0

الاتاحة: https://doi.org/10.1038/s41598-022-06361-x
https://doaj.org/article/983f21c04f1a42d2ac1d363ac34522e0

المؤلفون: Jennifer S. Graves, Marius Thomas, Jun Li, Anuja R. Shah, Alexandra Goodyear, Markus R. Lange, Heinz Schmidli, Dieter A. Häring, Tim Friede, Jutta Gärtner

المصدر: Therapeutic Advances in Neurological Disorders, Vol 15 (2022)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/17562864211070449; https://doaj.org/toc/1756-2864; https://doaj.org/article/3280060de3e7485a9ca98c0a21cbc0c6

الاتاحة: https://doi.org/10.1177/17562864211070449
https://doaj.org/article/3280060de3e7485a9ca98c0a21cbc0c6

المؤلفون: Henry Gerd Klemp, Matthias Kettwig, Frank Streit, Jutta Gärtner, Hendrik Rosewich, Ralph Krätzner

المصدر: Metabolites; Volume 11; Issue 6; Pages: 347

مصطلحات موضوعية: peroxisome biogenesis disorder, Zellweger syndrome spectrum, metabolomics, membrane lipids, biomarker, biocrates, AbsoluteIDQ p180, PEX1, ABCD1, D-BPIII, VLCFA, PC ae 36:4

وصف الملف: application/pdf

Relation: Integrative Metabolomics; https://dx.doi.org/10.3390/metabo11060347

الاتاحة: https://doi.org/10.3390/metabo11060347

المؤلفون: Payam Dibaj, Dagmar Seeger, Jutta Gärtner, Frank Petzke

المصدر: Neurology International; Volume 13; Issue 1; Pages: 79-84

مصطلحات موضوعية: yawning, fatigue, exercise, desensitization, graded activity

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/neurolint13010008

الاتاحة: https://doi.org/10.3390/neurolint13010008

المؤلفون: Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko vanHam, Jorge Asin Cayuela, Fredrik H Sterky

المصدر: EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)

مصطلحات موضوعية: autophagy, endosome, lysosomal storage disease, MPS, myelination, Medicine (General), R5-920, Genetics, QH426-470

Relation: https://doi.org/10.15252/emmm.202013376; https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684; https://doaj.org/article/4136db5871f54bce829ae48563537d48

الاتاحة: https://doi.org/10.15252/emmm.202013376
https://doaj.org/article/4136db5871f54bce829ae48563537d48

المؤلفون: Matthias Kettwig, Katharina Ternka, Kristin Wendland, Dennis Manfred Krüger, Silvia Zampar, Charlotte Schob, Jonas Franz, Abhishek Aich, Anne Winkler, M. Sadman Sakib, Lalit Kaurani, Robert Epple, Hauke B. Werner, Samy Hakroush, Julia Kitz, Marco Prinz, Eva Bartok, Gunther Hartmann, Simone Schröder, Peter Rehling, Marco Henneke, Susann Boretius, A. Alia, Oliver Wirths, Andre Fischer, Christine Stadelmann, Stefan Nessler, Jutta Gärtner

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-021-26880-x; https://doaj.org/toc/2041-1723; https://doaj.org/article/bd1fa646273840d68762f26fc8a37047

الاتاحة: https://doi.org/10.1038/s41467-021-26880-x
https://doaj.org/article/bd1fa646273840d68762f26fc8a37047

المؤلفون: Thomas Weber, Lars Schlotawa, Roland Dosch, Noémie Hamilton, Jens Kaiser, Stina Schiller, Britta Wenske, Jutta Gärtner, Marco Henneke

المصدر: Biology Open, Vol 9, Iss 5 (2020)

مصطلحات موضوعية: cystic leukoencephalopathy, innate immune system, zebrafish, lysosomes, rnaset2, Science, Biology (General), QH301-705.5

Relation: http://bio.biologists.org/content/9/5/bio049239; https://doaj.org/toc/2046-6390; https://doaj.org/article/94cf29131fb240afb6618a775d7bdd8e

الاتاحة: https://doi.org/10.1242/bio.049239
https://doaj.org/article/94cf29131fb240afb6618a775d7bdd8e

المؤلفون: Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich

المصدر: Neurobiology of Disease, Vol 143, Iss , Pp 105012- (2020)

مصطلحات موضوعية: Parkinsonism, Alternating hemiplegia of childhood, AHC, Rapid-onset dystonia-parkinsonism, RDP, ATP1A3, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120302874; https://doaj.org/toc/1095-953X; https://doaj.org/article/d89e933f34624e70b8ae148a621dfa36

الاتاحة: https://doi.org/10.1016/j.nbd.2020.105012
https://doaj.org/article/d89e933f34624e70b8ae148a621dfa36

المؤلفون: Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt

المصدر: JIMD Reports, Vol 55, Iss 1, Pp 38-43 (2020)

مصطلحات موضوعية: antithrombin deficiency, cerebral venous sinus thrombosis, coagulation disorder, congenital disorder of glycosylation, MPI‐CDG, thrombophilia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

Relation: https://doi.org/10.1002/jmd2.12149; https://doaj.org/toc/2192-8312; https://doaj.org/article/c9c66d080ae6452293a4977f6ec20bc8

الاتاحة: https://doi.org/10.1002/jmd2.12149
https://doaj.org/article/c9c66d080ae6452293a4977f6ec20bc8

المؤلفون: Gökmen Aktas, Jost M. Kollmeier, Arun A. Joseph, Klaus-Dietmar Merboldt, Hans-Christoph Ludwig, Jutta Gärtner, Jens Frahm, Steffi Dreha-Kulaczewski

المصدر: Fluids and Barriers of the CNS, Vol 16, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Flow-sensitive real-time MRI, CSF dynamics, Respiration, Hydrocephalus, Intrathoracic pressure, Intraabdominal pressure, Neurology. Diseases of the nervous system, RC346-429

Relation: http://link.springer.com/article/10.1186/s12987-019-0130-0; https://doaj.org/toc/2045-8118; https://doaj.org/article/b2987ee073234fe1bfa0329f3ad16744

الاتاحة: https://doi.org/10.1186/s12987-019-0130-0
https://doaj.org/article/b2987ee073234fe1bfa0329f3ad16744

المؤلفون: Hendrik Rosewich, Stefan Nessler, Wolfgang Brück, Jutta Gärtner

المصدر: Therapeutic Advances in Neurological Disorders, Vol 12 (2019)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/1756286419868133; https://doaj.org/toc/1756-2864; https://doaj.org/article/18e8827bd1504125bc38894d69abc5f3

الاتاحة: https://doi.org/10.1177/1756286419868133
https://doaj.org/article/18e8827bd1504125bc38894d69abc5f3

المؤلفون: Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 48-52 (2019)

مصطلحات موضوعية: formylglycine generating enzyme, hydrops fetalis, lysosomal storage disorder, multiple sulfatase deficiency, preterm birth, SUMF1, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

Relation: https://doi.org/10.1002/jmd2.12074; https://doaj.org/toc/2192-8312; https://doaj.org/article/510b439cfa3746eb892594884cda22f2

الاتاحة: https://doi.org/10.1002/jmd2.12074
https://doaj.org/article/510b439cfa3746eb892594884cda22f2

المؤلفون: Sara Zagaglia, Christina Selch, Jelena R. Nisevic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, S. Krithika, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta S. Kristiansen, Lars K. Hansen, Maria S. Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard J. Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

مصطلحات موضوعية: Infarction, Epilepsy surgery, Partial seizures

Relation: 10779/aru.23779701.v1; https://figshare.com/articles/journal_contribution/Neurologic_phenotypes_associated_with_COL4A1_2_mutations/23779701

الاتاحة: https://figshare.com/articles/journal_contribution/Neurologic_phenotypes_associated_with_COL4A1_2_mutations/23779701

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

Relation: https://doi.org/10.1038/s41467-017-00932-7; https://doaj.org/toc/2041-1723; https://doaj.org/article/afa5f18f07b548228b00ab048e187a66

الاتاحة: https://doi.org/10.1038/s41467-017-00932-7
https://doaj.org/article/afa5f18f07b548228b00ab048e187a66

المؤلفون: Julia Hofhuis, Fabian Schueren, Christopher Nötzel, Thomas Lingner, Jutta Gärtner, Olaf Jahn, Sven Thoms

مصطلحات موضوعية: Biochemistry, Cell Biology, Genetics, Molecular Biology, translational read-through, stop codon suppression, genetic code, peroxisome, malate dehydrogenase, MDH1x, redox shuttle, lactate dehydrogenase, LDHBx

Relation: https://figshare.com/articles/journal_contribution/Supplementary_Information_from_The_functional_read-through_extension_of_malate_dehydrogenase_reveals_a_modification_of_the_genetic_code/4220274

الاتاحة: https://doi.org/10.6084/m9.figshare.4220274.v2
https://figshare.com/articles/journal_contribution/Supplementary_Information_from_The_functional_read-through_extension_of_malate_dehydrogenase_reveals_a_modification_of_the_genetic_code/4220274