المؤلفون: Balestrini, S., Mikati, M.A., Álvarez-García-Rovés, R., Carboni, M., Hunanyan, A.S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., Veneselli, E., Campistol, J., Fons, C., Pias-Peleteiro, L., Brashear, A., Miller, C., Samões, R., Brankovic, V., Padiath, Q.S., Potic, A., Pilch, J., Vezyroglou, A., Bye, AME, Davis, A.M., Ryan, M.M., Semsarian, C., Hollingsworth, G., Scheffer, I.E., Granata, T., Nardocci, N., Ragona, F., Arzimanoglou, A., Panagiotakaki, E., Carrilho, I., Zucca, C., Novy, J., Dzieżyc, K., Parowicz, M., Mazurkiewicz-Bełdzińska, M., Weckhuysen, S., Pons, R., Groppa, S., Sinden, D.S., Pitt, G.S., Tinker, A., Ashworth, M., Michalak, Z., Thom, M., Cross, J.H., Vavassori, R., Kaski, J.P., Sisodiya, S.M.

المصدر: Neurology, vol. 95, no. 21, pp. e2866-e2879

مصطلحات موضوعية: Adolescent, Adult, Cerebellar Ataxia/genetics, Cerebellar Ataxia/metabolism, Cerebellar Ataxia/therapy, Child, Preschool, Cohort Studies, Female, Foot Deformities, Congenital/genetics, Congenital/metabolism, Congenital/therapy, Hearing Loss, Sensorineural/genetics, Sensorineural/metabolism, Sensorineural/therapy, Hemiplegia/diagnosis, Hemiplegia/genetics, Hemiplegia/therapy, Humans, Infant, Male, Middle Aged, Mutation/genetics, Optic Atrophy/genetics, Optic Atrophy/metabolism, Optic Atrophy/therapy, Phenotype, Reflex

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32913013; info:eu-repo/semantics/altIdentifier/eissn/1526-632X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C9EB42E436AF2; https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF; https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF
https://doi.org/10.1212/WNL.0000000000010794
https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C9EB42E436AF2

المؤلفون: Schuster, Stefanie, Schelling, Yvonne, Synofzik, Matthis, Höflinger, Philip, Schöls, Ludger, Hauser, Stefan

المصدر: Stem cell research 29, 166-169 (2018). doi:10.1016/j.scr.2018.04.001

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Cellular Reprogramming Techniques, Cerebellar Ataxia: genetics, Cerebellar Ataxia: metabolism, Cerebellar Ataxia: pathology, Child, DNA Mutational Analysis, Fibroblasts: metabolism, Fibroblasts: pathology, Gonadotropin-Releasing Hormone: deficiency, Gonadotropin-Releasing Hormone: genetics, Gonadotropin-Releasing Hormone: metabolism, Humans, Hypogonadism: genetics, Hypogonadism: metabolism, Hypogonadism: pathology, Induced Pluripotent Stem Cells: metabolism, Induced Pluripotent Stem Cells: pathology, Male, Mutation, Polymorphism, Single Nucleotide, Skin: metabolism, Skin: pathology, Ubiquitin-Protein Ligases: genetics, Ubiquitin-Protein Ligases: metabolism, Gonadotropin-Releasing Hormone, STUB1 protein, human, Ubiquitin-Protein Ligases

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1873-5061; info:eu-repo/semantics/altIdentifier/pmid/pmid:29679845; info:eu-repo/semantics/altIdentifier/issn/1876-7753; https://pub.dzne.de/record/140002; https://pub.dzne.de/search?p=id:%22DZNE-2020-06324%22

الاتاحة: https://pub.dzne.de/record/140002
https://pub.dzne.de/search?p=id:%22DZNE-2020-06324%22

المؤلفون: Rebelo, Adriana P, Eidhof, Ilse, Anheim, Mathieu, Tranchant, Christine, van de Warrenburg, Bart, Guissart, Claire, Koenig, Michel, Howell, Jack, Moraes, Carlos T, Schenck, Annette, Stevanin, Giovanni, Züchner, Stephan, Cintra, Vivian P, Synofzik, Matthis, network, PREPARE, Guillot-Noel, Léna, Pereira, Claudia V, Timmann, Dagmar, Traschuetz, Andreas, Schöls, Ludger, Coarelli, Giulia, Dürr, Alexandra

المصدر: Brain 144(5), 1467 - 1481 (2021). doi:10.1093/brain/awab071

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Animals, Cerebellar Ataxia: genetics, Cerebellar Ataxia: metabolism, Cerebellar Ataxia: pathology, Drosophila, Female, Humans, Loss of Function Mutation, Male, Middle Aged, Oxidative Stress: genetics, Pedigree, Peroxiredoxin III: genetics, PRDX3, ROS, ataxia

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/pmid/pmid:33889951; https://pub.dzne.de/record/157737; https://pub.dzne.de/search?p=id:%22DZNE-2021-01194%22

الاتاحة: https://pub.dzne.de/record/157737
https://pub.dzne.de/search?p=id:%22DZNE-2021-01194%22

المؤلفون: Nitsch, Louisa, Zimmermann, Julian, Krauthausen, Marius, Hofer, Markus J, Saggu, Raman, Petzold, Gabor C, HENEKA, Michael, Getts, Daniel R, Becker, Albert, Campbell, Iain L, Müller, Marcus

المصدر: Molecular Neurobiology, 56 (12), 7977 - 7993 (2019-12)

مصطلحات موضوعية: Autoimmunity, B cells, CNS, IL-23, LPS, Neuroinflammation, Interleukin-23, Animals, B-Lymphocytes/metabolism, Brain/diagnostic imaging, Brain/metabolism, Cerebellar Ataxia/diagnostic imaging, Cerebellar Ataxia/etiology, Cerebellar Ataxia/metabolism, Disease Models, Animal, Interleukin-23/biosynthesis, Mice, Inbred C3H, Inbred C57BL, Transgenic, T-Lymphocytes/metabolism, Disease Progression, B-Lymphocytes, Brain, Cerebellar Ataxia, T-Lymphocytes, Neuroscience (miscellaneous), Neurology, Cellular and Molecular Neuroscience

Relation: http://link.springer.com/content/pdf/10.1007/s12035-019-1640-0.pdf; urn:issn:0893-7648; urn:issn:1559-1182; https://orbilu.uni.lu/handle/10993/60951; info:hdl:10993/60951; info:pmid:31154574; wos:000494860800005

الاتاحة: https://orbilu.uni.lu/handle/10993/60951
https://doi.org/10.1007/s12035-019-1640-0

المؤلفون: Nitsch, Louisa, Zimmermann, Julian, Müller, Marcus, Krauthausen, Marius, Hofer, Markus J, Saggu, Raman, Petzold, Gabor C, Heneka, Michael T, Getts, Daniel R, Becker, Albert, Campbell, Iain L

المصدر: Molecular neurobiology 56(12), 7977-7993 (2019). doi:10.1007/s12035-019-1640-0

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Animals, B-Lymphocytes: metabolism, Brain: diagnostic imaging, Brain: metabolism, Cerebellar Ataxia: diagnostic imaging, Cerebellar Ataxia: etiology, Cerebellar Ataxia: metabolism, Disease Models, Animal, Disease Progression, Interleukin-23: biosynthesis, Mice, Inbred C3H, Inbred C57BL, Transgenic, T-Lymphocytes: metabolism

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0893-7648; info:eu-repo/semantics/altIdentifier/issn/1559-1182; info:eu-repo/semantics/altIdentifier/pmid/pmid:31154574; https://pub.dzne.de/record/141480; https://pub.dzne.de/search?p=id:%22DZNE-2020-07804%22

الاتاحة: https://pub.dzne.de/record/141480
https://pub.dzne.de/search?p=id:%22DZNE-2020-07804%22

المؤلفون: Woeste, Marina A, Stern, Sina, Hamzeh, Hussein, Körschen, Heinz G, Aerts, Johannes M F G, Bönigk, Wolfgang, Endepols, Heike, Sandhoff, Roger, Geyer, Matthias, Berger, Thomas K, Bradke, Frank, Wachten, Dagmar, Raju, Diana N, Grahn, Elena, Dittmann, Dominik, Gutbrod, Katharina, Dörmann, Peter, Hansen, Jan N, Schonauer, Sophie, Marx, Carina E

المصدر: The journal of biological chemistry 294(11), 3853-3871 (2019). doi:10.1074/jbc.RA118.006311

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Glucosylceramidase, Animals, Biocatalysis, Cerebellar Ataxia: genetics, Cerebellar Ataxia: metabolism, Humans, Locomotion: genetics, Loss of Function Mutation, Mice, Knockout, Spastic Paraplegia, Hereditary: genetics, Hereditary: metabolism, Species Specificity, beta-Glucosidase: antagonists & inhibitors, beta-Glucosidase: deficiency, beta-Glucosidase: genetics, beta-Glucosidase: metabolism, beta-Glucosidase, beta-glucosidase 2, mouse, GBA2 protein, human

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:30662006; info:eu-repo/semantics/altIdentifier/issn/0021-9258; info:eu-repo/semantics/altIdentifier/issn/1067-8816; info:eu-repo/semantics/altIdentifier/issn/1083-351X; https://pub.dzne.de/record/140584; https://pub.dzne.de/search?p=id:%22DZNE-2020-06906%22

الاتاحة: https://pub.dzne.de/record/140584
https://pub.dzne.de/search?p=id:%22DZNE-2020-06906%22

المؤلفون: Eidhof, Ilse, Baets, Jonathan, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette

المصدر: Brain 141(9), 2592-2604 (2018). doi:10.1093/brain/awy198

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Animals, Ataxia: genetics, Ataxia: physiopathology, Cerebellar Ataxia: genetics, Cerebellar Ataxia: metabolism, Cerebellar Ataxia: physiopathology, Cerebellum: physiology, Drosophila Proteins: genetics, Drosophila Proteins: physiology, Drosophila melanogaster: genetics, Drosophila melanogaster: physiology, Female, Gene Knockdown Techniques: methods, Genes, Recessive, Genetic Predisposition to Disease: genetics, Humans, Middle Aged, Mutation, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: physiology, Phenotype, Stress, Physiological: genetics, Physiological: physiology, Drosophila Proteins, GDAP protein, Nerve Tissue Proteins

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/pmid/pmid:30084953; info:eu-repo/semantics/altIdentifier/issn/0006-8950; https://pub.dzne.de/record/140257; https://pub.dzne.de/search?p=id:%22DZNE-2020-06579%22

الاتاحة: https://pub.dzne.de/record/140257
https://pub.dzne.de/search?p=id:%22DZNE-2020-06579%22