-
1دورية أكاديمية
المؤلفون: Kollmer, Jennifer, Weiler, Markus, Sam, Georges, Faber, Jennifer, Hayes, John M, Heiland, Sabine, Bendszus, Martin, Wick, Wolfgang, Jacobi, Heike
المصدر: European journal of neurology 29(6), 1782-1790 (2022). doi:10.1111/ene.15305
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Ataxia, Humans, Machado-Joseph Disease: diagnostic imaging, Machado-Joseph Disease: genetics, Magnetic Resonance Imaging: methods, Magnetic Resonance Spectroscopy: methods, Peripheral Nerves: diagnostic imaging, Peripheral Nerves: pathology, Peripheral Nervous System Diseases: diagnostic imaging, Peripheral Nervous System Diseases: genetics, Peripheral Nervous System Diseases: pathology, electrophysiology, magnetic resonance neurography, polyneuropathy, quantitative imaging markers, spinocerebellar ataxia
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1471-0552; info:eu-repo/semantics/altIdentifier/issn/1468-1331; info:eu-repo/semantics/altIdentifier/issn/1351-5101; info:eu-repo/semantics/altIdentifier/pmid/pmid:35224825; https://pub.dzne.de/record/163300Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00080%22Test
-
2دورية أكاديمية
المؤلفون: Traschuetz, Andreas, Wilke, Carlo, Haack, Tobias B, Bender, Benjamin, Group, RFC1 Study, Synofzik, Matthis
المصدر: Brain 145(3), e6 - e9 (2022). doi:10.1093/brain/awac003
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Bilateral Vestibulopathy, Cerebellar Ataxia, Humans, Peripheral Nervous System Diseases: genetics
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:35230382; https://pub.dzne.de/record/164074Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00737%22Test
-
3دورية أكاديمية
المؤلفون: Abaji, R., Ceppi, F., Patel, S., Gagné, V., Xu, C.J., Spinella, J.F., Colombini, A., Parasole, R., Buldini, B., Basso, G., Conter, V., Cazzaniga, G., Leclerc, J.M., Laverdière, C., Sinnett, D., Krajinovic, M.
المصدر: Pharmacogenomics, vol. 19, no. 15, pp. 1181-1193
مصطلحات موضوعية: Alleles, Child, Exome, Female, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genotype, Humans, Male, Peripheral Nervous System Diseases/chemically induced, Peripheral Nervous System Diseases/genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics, Risk Factors, Vincristine/adverse effects, Whole Exome Sequencing/methods, acute lymphoblastic leukemia, adverse drug reactions, association study, cancer, genetics, pharmacogenetics, polymorphism, vincristine-induced peripheral neuropathy, whole-exome sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30191766; info:eu-repo/semantics/altIdentifier/eissn/1744-8042; https://serval.unil.ch/notice/serval:BIB_B4E86EAA3CE6Test; urn:issn:1462-2416
الإتاحة: https://doi.org/10.2217/pgs-2018-0093Test
https://serval.unil.ch/notice/serval:BIB_B4E86EAA3CE6Test -
4دورية أكاديمية
المؤلفون: Wischhof, Lena, Gioran, Anna, Sonntag-Bensch, Dagmar, Piazzesi, Antonia, Stork, Miriam, Nicotera, Pierluigi, Bano, Daniele
المصدر: Molecular metabolism 13, 10-23 (2018). doi:10.1016/j.molmet.2018.05.002
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Apoptosis Inducing Factor: genetics, Apoptosis Inducing Factor: physiology, Gene Knock-In Techniques, Mice, Mitochondria, Mitochondrial Diseases, Muscle Fibers, Skeletal: physiology, Muscular Diseases: genetics, Mutation, Peripheral Nervous System Diseases: genetics, Peripheral Nervous System Diseases: physiopathology, Proteomics, AIFM1 protein, human, Apoptosis Inducing Factor
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:29780003; info:eu-repo/semantics/altIdentifier/issn/2212-8778; https://pub.dzne.de/record/140102Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-06424%22Test
-
5دورية أكاديمية
المؤلفون: Bartesaghi, L., Arnaud Gouttenoire, E., Prunotto, A., Médard, J.J., Bergmann, S., Chrast, R.
المصدر: European Journal of Neuroscience, vol. 42, no. 2, pp. 1788-1796
مصطلحات موضوعية: Age Factors, Animals, Newborn, Bacterial Proteins/genetics, Bacterial Proteins/metabolism, Carrier Proteins/genetics, Disease Models, Animal, Gene Expression Regulation, Developmental/genetics, HEK293 Cells, Humans, Luminescent Proteins/genetics, Luminescent Proteins/metabolism, Mice, Transgenic, Mutation/genetics, Myelin Sheath/metabolism, Peripheral Nervous System/metabolism, Peripheral Nervous System Diseases/genetics, Peripheral Nervous System Diseases/metabolism, RNA, Messenger/genetics, SOXC Transcription Factors/genetics, SOXC Transcription Factors/metabolism, Schwann Cells/metabolism, Transcription Factors/genetics, Transcription Factors/metabolism, Transfection
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25899854; info:eu-repo/semantics/altIdentifier/eissn/1460-9568; https://serval.unil.ch/notice/serval:BIB_DF6145E49C9FTest; urn:issn:0953-816X
الإتاحة: https://doi.org/10.1111/ejn.12929Test
https://serval.unil.ch/notice/serval:BIB_DF6145E49C9FTest -
6دورية أكاديمية
المؤلفون: Schmidt, Wolfgang M, Rutledge, S Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E
المصدر: The American journal of human genetics 97(6), 855-861 (2015). doi:10.1016/j.ajhg.2015.10.011
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Adolescent, Base Sequence, Cerebellar Ataxia: genetics, Cerebellar Ataxia: pathology, Exome, Female, Gene Expression, Hepatolenticular Degeneration: genetics, Hepatolenticular Degeneration: pathology, Heterozygote, Humans, Liver Failure: genetics, Liver Failure: pathology, Male, Molecular Sequence Data, Mutation, Pedigree, Peripheral Nervous System Diseases: genetics, Peripheral Nervous System Diseases: pathology, Sequence Analysis, DNA, Syndrome, Transcription Factors: genetics, Young Adult, SCYL1 protein, human, Transcription Factors
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; info:eu-repo/semantics/altIdentifier/pmid/pmid:26581903; https://pub.dzne.de/record/138333Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-04655%22Test
-
7دورية أكاديمية
المؤلفون: Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Chapman, Kimberly A., Taft, Ryan J., Vanderver, Adeline, +13 additional authors
المصدر: Pediatrics Faculty Publications
مصطلحات موضوعية: Abnormailities, Multiple--genetics, Alanine-tRNA Ligase--genetics, Epilepsy--genetics, Models, Molecular, Myelin Sheath--pathology, Peripheral Nervous System Diseases--genetics, Phenotype, Pediatrics
العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/1171Test; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183Test/
-
8دورية أكاديمية
المؤلفون: Burgunder, J-M, Schöls, L., Lynch, T., Mariotti, C., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Finsterer, J., EFNS, Baets, J., Andersen, P., Gasser, T., Szolnoki, Z., Fontaine, B., Van Broeckhoven, C., Di Donato, S., De Jonghe, P.
المصدر: European journal of neurology 18(2), 207-217 (2011). doi:10.1111/j.1468-1331.2010.03069.x
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Molecular Diagnostic Techniques, Motor Neuron Disease: diagnosis, Motor Neuron Disease: genetics, Muscular Diseases: diagnosis, Muscular Diseases: genetics, Peripheral Nervous System Diseases: diagnosis, Peripheral Nervous System Diseases: genetics
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1471-0552; info:eu-repo/semantics/altIdentifier/pmid/pmid:20500522; info:eu-repo/semantics/altIdentifier/issn/1351-5101; info:eu-repo/semantics/altIdentifier/issn/1468-1331; https://pub.dzne.de/record/136163Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-02485%22Test
-
9دورية أكاديمية
المؤلفون: Berta, T., Poirot, O., Pertin, M., Ji, R.R., Kellenberger, S., Decosterd, I.
المصدر: Molecular and Cellular Neuroscience, vol. 37, no. 2, pp. 196-208
مصطلحات موضوعية: Animals, Cells, Cultured, Disease Models, Animal, Down-Regulation/genetics, Ganglia, Spinal/injuries, Spinal/metabolism, Gene Expression Regulation/genetics, Ion Channel Gating/genetics, Male, Membrane Potentials/genetics, Nerve Tissue Proteins/genetics, Neuralgia/genetics, Neuralgia/metabolism, Nociceptors/metabolism, Nociceptors/physiopathology, Peripheral Nervous System Diseases/genetics, Peripheral Nervous System Diseases/metabolism, Protein Subunits/genetics, RNA, Messenger/metabolism, Rats, Recovery of Function/genetics, Sodium Channel Blockers/pharmacology, Sodium Channels/genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17964804; info:eu-repo/semantics/altIdentifier/pissn/1044-7431; https://serval.unil.ch/notice/serval:BIB_62A649E6A2E8Test
الإتاحة: https://doi.org/10.1016/j.mcn.2007.09.007Test
https://serval.unil.ch/notice/serval:BIB_62A649E6A2E8Test -
10دورية أكاديمية
المؤلفون: Castañé, Anna, Célérier, Evelyne, Martín, Miquel, Ledent, Catherine, Parmentier, Marc, Maldonado, Rafael, Valverde, Olga
المصدر: Neuropharmacology, 50 (1
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Amines -- pharmacology, Animals, Anticonvulsants -- pharmacology, Behavior, Animal -- drug effects, Cyclohexanecarboxylic Acids -- pharmacology, Head, Hyperalgesia -- chemically induced, Hyperalgesia -- psychology, Male, Mice, Knockout, Pain -- etiology, Pain -- genetics, Pain -- physiopathology, Pain Measurement -- drug effects, Peripheral Nervous System Diseases -- complications, Peripheral Nervous System Diseases -- genetics, Peripheral Nervous System Diseases -- physiopathology, Physical Stimulation, Receptor, Cannabinoid, CB1 -- genetics, CB1 -- physiology, Sciatic Neuropathy -- physiopathology, gamma-Aminobutyric Acid -- pharmacology, Allodynia, CB1 cannabinoid receptors, Gabapentin
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.1016/j.neuropharm.2005.07.022; uri/info:pii/S0028-3908(05)00293-5; uri/info:pmid/16169563; uri/info:scp/30344440823; https://dipot.ulb.ac.be/dspace/bitstream/2013/52319/1/Elsevier_27508.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52319Test