المؤلفون: Martakis, Kyriakos, Claassen, Jens, Gascon-Bayari, Jordi, Goldschagg, Nicolina, Hahn, Andreas, Hassan, Anhar, Hennig, Anita, Jones, Simon, Kay, Richard, Lau, Heather, Perlman, Susan, Sharma, Reena, Schneider, Susanne, Bremova-Ertl, Tatiana

المصدر: Neurology. 100(10)

مصطلحات موضوعية: Adolescent, Adult, Child, Female, Humans, Male, Middle Aged, Young Adult, Ataxia, Gangliosidoses, GM2, Quality of Life, Sandhoff Disease

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8sv8413rTest

المؤلفون: Boland, Sebastian, Swarup, Sharan, Ambaw, Yohannes A, Malia, Pedro C, Richards, Ruth C, Fischer, Alexander W, Singh, Shubham, Aggarwal, Geetika, Spina, Salvatore, Nana, Alissa L, Grinberg, Lea T, Seeley, William W, Surma, Michal A, Klose, Christian, Paulo, Joao A, Nguyen, Andrew D, Harper, J Wade, Walther, Tobias C, Farese, Robert V

المصدر: Nature Communications. 13(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Rare Diseases, Aging, Frontotemporal Dementia (FTD), Neurodegenerative, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Frontotemporal Dementia, Gangliosides, Gangliosidoses, Granulins, Humans, Lysosomes, Mice, N-Acetylneuraminic Acid, Phosphates, Progranulins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7p7865xxTest

المؤلفون: Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101014- (2023)

مصطلحات موضوعية: Late-onset GM2 gangliosidoses, Tay-Sachs disease, Sandhoff disease, β-hexosaminidase A, Diagnosis, Patient perspective, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000605Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/c45dd6a5b126438f90a862a1d5bd9c7bTest

المؤلفون: Plata Mora , Sandy Lorena, Yaya Lancheros, Mary Luz

المصدر: Ciencia Latina Revista Científica Multidisciplinar; Vol. 7 Núm. 6 (2023); 1623-1640 ; 2707-2215 ; 2707-2207 ; 10.37811/cl_rcm.v7i6

مصطلحات موضوعية: tay sachs disease, hexosaminidase, gene therapy, adeno-associated virus, GM2 gangliosidoses, enfermedad de tay sachs, hexosaminidasas, terapia génica, virus adenoasociados, gangliosidosis GM2

وصف الملف: application/pdf; text/html

العلاقة: https://ciencialatina.org/index.php/cienciala/article/view/8795/13088Test; https://ciencialatina.org/index.php/cienciala/article/view/8795/13090Test; https://ciencialatina.org/index.php/cienciala/article/view/8795Test

الإتاحة: https://doi.org/10.37811/cl_rcm.v7i6.8795Test
https://doi.org/10.37811/cl_rcm.v7i6Test
https://ciencialatina.org/index.php/cienciala/article/view/8795Test

المؤلفون: Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir

المصدر: Cukurova Medical Journal, Vol 46, Iss 3, Pp 1201-1207 (2021)

مصطلحات موضوعية: lysosomal storage disorders, gm2 gangliosidoses, hexosaminidase, tay-sachs disease, sandhoff disease, lizozomal depo hastalıkları, gm2 gangliosidoz, hekzosaminidaz, tay-sachs hastalığı, sandhoff hastalığı, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://dergipark.org.tr/tr/download/article-file/1798286Test; https://doaj.org/toc/2602-3040Test

الوصول الحر: https://doaj.org/article/7256cc1934c44198ab0a2579d0443be4Test

المؤلفون: Franciotta, Diego¹ diego.franciotta@mondino.it, Gastaldi, Matteo², Biagioli, Tiziana³, Benedetti, Luana⁴, Giannotta, Claudia⁵, Bedin, Roberta⁶, Zardini, Elisabetta², Nobile-Orazio, Eduardo⁵

المصدر: Clinical Chemistry & Laboratory Medicine. Nov2018, Vol. 56 Issue 11, p1921-1925. 5p. 1 Chart.

مصطلحات موضوعية: *GANGLIOSIDOSES, *IMMUNOGLOBULINS, *NEUROIMMUNOLOGY, *NEUROPATHY, *PATHOLOGICAL laboratories

المؤلفون: Gordon-Lipkin, Eliza^1,2,3, Cohen, Julie S.⁴, Srivastava, Siddharth⁵, Soares, Bruno P.⁶, Levey, Eric^1,3, Fatemi, Ali^1,2,3,4 fatemi@kennedykrieger.org

المصدر: Journal of Child Neurology. Oct2018, Vol. 33 Issue 12, p825-831. 7p.

مصطلحات موضوعية: *GANGLIOSIDOSES, *EPILEPSY, *HEARING disorders, *ICHTHYOSIS, *NEURODEVELOPMENTAL treatment

المؤلفون: Gaspar, Ricardo^1,2, Pallbo, Jon¹, Weininger, Ulrich³, Linse, Sara², Sparr, Emma¹ emma.sparr@fkem1.lu.se

المصدر: BBA - Proteins & Proteomics. Oct2018, Vol. 1866 Issue 10, p1062-1072. 11p.

مصطلحات موضوعية: *GANGLIOSIDOSES, *SYNUCLEIN structure, *AMYLOID genetics, *EXOSOMES, *CELL aggregation

المؤلفون: Calzoni, Eleonora, Cerrotti, Giada, Sagini, Krizia, Delo, Federica, Buratta, Sandra, Pellegrino, Roberto Maria, Alabed, Husam B R, Fratini, Federica, Emiliani, Carla, Urbanelli, Lorena

المصدر: J Funct Biomater ; ISSN:2079-4983 ; Volume:15 ; Issue:6

مصطلحات موضوعية: GM2 gangliosidoses, Sandhoff disease, enzyme replacement therapy (ERT), exosomes, extracellular vesicles, lysosomal enzymes, lysosomal storage disorders (LSD), microvesicles, β-hexosaminidase

العلاقة: https://doi.org/10.3390/jfb15060153Test; https://pubmed.ncbi.nlm.nih.gov/38921527Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11204914Test/

الإتاحة: https://doi.org/10.3390/jfb15060153Test
https://pubmed.ncbi.nlm.nih.gov/38921527Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11204914Test/

المؤلفون: Kern, Jan, Böhringer, Judith, Göricke, Sophia, Krägeloh-Mann, Ingeborg, Synofzik, Matthis, Timmann, Dagmar, Trollmann, Regina, Stendel, Claudia, Kamm, Cristoph, Röbl, Markus, Santhanakumaran, Vidiyaah, Groeschel, Samuel, Beck-Wödl, Stefanie

المصدر: Neurology 102(1), e207898 (2024). doi:10.1212/WNL.0000000000207898

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Humans, Child, Sandhoff Disease: diagnostic imaging, Sandhoff Disease: genetics, Gangliosidoses, GM2: diagnostic imaging, GM2: genetics, Diagnostic Imaging, Ataxia, Disease Progression

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:38165373; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/266770Test; https://pub.dzne.de/search?p=id:%22DZNE-2024-00033%22Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000207898Test
https://pub.dzne.de/record/266770Test
https://pub.dzne.de/search?p=id:%22DZNE-2024-00033%22Test