المؤلفون: Joshua G. Macopson-Jones, Maile Adams, Julien Philippe, Albert R. La Spada

المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: spinocerebellar ataxia (SCA) 7, polyglutamine (polyQ) diseases, nucleocytoplasmic (N/C) transport, mouse model, induced pluripotent stem cells (iPSCs), neuron progenitor cells (NPCs), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1478110/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/f717cd22ee1e4d8ba0d28ed41a51d2dc

المؤلفون: Luke C. Bartelt, Mouad Fakhri, Grazyna Adamek, Magdalena Trybus, Anna Samelak-Czajka, Paulina Jackowiak, Agnieszka Fiszer, Craig B. Lowe, Albert R. La Spada, Pawel M. Switonski

المصدر: Cell Reports: Methods, Vol 4, Iss 7, Pp 100816- (2024)

مصطلحات موضوعية: CP: Neuroscience, Biotechnology, TP248.13-248.65, Biochemistry, QD415-436, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667237524001814; https://doaj.org/toc/2667-2375

URL الوصول: https://doaj.org/article/4c6c45c478fa4747abf678aa1cc531fa

المؤلفون: Craig L. Bennett, Somasish Dastidar, Frederick J. Arnold, Spencer U. McKinstry, Cameron Stockford, Brian D. Freibaum, Bryce L. Sopher, Meilin Wu, Glen Seidner, William Joiner, J. Paul Taylor, Ryan J. H. West, Albert R. La Spada

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, C9orf72, Senataxin, Dipeptide repeat, Drosophila, Nucleolus, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/6f3ba7e74a9b45459c4b799036492c5d

المؤلفون: Anastasia Gromova, Byeonggu Cha, Erica M. Robinson, Laura M. Strickland, Nhat Nguyen, Mai K. ElMallah, Constanza J. Cortes, Albert R. La Spada

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)

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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/f527183059514e94be5a8849890b6b7f

المؤلفون: Frederick J. Arnold, Alexandra F. Putka, Urmimala Raychaudhuri, Solomon Hsu, Richard S. Bedlack, Craig L. Bennett, Albert R. La Spada

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 5587 (2024)

مصطلحات موضوعية: glutamate excitotoxicity, AMPA receptors, GluR2 editing, astrocytes, NMDA receptors, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/11/5587; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/d20eaf2f4c424d2b8c67b0bff66a8ea7

الاتاحة: https://doi.org/10.3390/ijms25115587
https://doaj.org/article/d20eaf2f4c424d2b8c67b0bff66a8ea7

المؤلفون: Ya Cui, Frederick J. Arnold, Fanglue Peng, Dan Wang, Jason Sheng Li, Sebastian Michels, Eric J. Wagner, Albert R. La Spada, Wei Li

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/3b9acc93f1604e6d9cce16b07c9ad72d

المؤلفون: Ian Matthews, Allison Birnbaum, Anastasia Gromova, Amy W. Huang, Kailin Liu, Eleanor A. Liu, Kristen Coutinho, Megan McGraw, Dalton C. Patterson, Macy T. Banks, Amber C. Nobles, Nhat Nguyen, Gennifer E. Merrihew, Lu Wang, Eric Baeuerle, Elizabeth Fernandez, Nicolas Musi, Michael J. MacCoss, Helen C. Miranda, Albert R. La Spada, Constanza J. Cortes

المصدر: Cell Reports, Vol 42, Iss 11, Pp 113436- (2023)

مصطلحات موضوعية: CP: Neuroscience, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124723014481; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/1587bf560e50423e9bbcf4e8794e369a

المؤلفون: Joe R. Delaney, Albert R. La Spada

المصدر: STAR Protocols, Vol 4, Iss 2, Pp 102205- (2023)

مصطلحات موضوعية: Cell Biology, Genomics, High-throughput Screening, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666166723001636; https://doaj.org/toc/2666-1667

URL الوصول: https://doaj.org/article/3893213cd32147d9bb4d691062c1dc10

المؤلفون: Aristides Hadjinicolaou, Kathie J. Ngo, Daniel Y. Conway, John P. Provias, Steven K. Baker, Lauren I. Brady, Craig L. Bennett, Albert R. La Spada, Brent L. Fogel, Grace Yoon

المصدر: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: SETX, Senataxin, Axonal neuropathy, Neurodegeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/461130cb06754f06a682219f2ea46453

المؤلفون: Diana Piol, Laura Tosatto, Emanuela Zuccaro, Eric N. Anderson, Antonella Falconieri, Maria J. Polanco, Caterina Marchioretti, Federica Lia, Joseph White, Elisa Bregolin, Giovanni Minervini, Sara Parodi, Xavier Salvatella, Giorgio Arrigoni, Andrea Ballabio, Albert R. La Spada, Silvio C. E. Tosatto, Fabio Sambataro, Diego L. Medina, Udai B. Pandey, Manuela Basso, Maria Pennuto

المساهمون: Piol, Diana, Tosatto, Laura, Zuccaro, Emanuela, Anderson, Eric N., Falconieri, Antonella, Polanco, Maria J., Marchioretti, Caterina, Lia, Federica, White, Joseph, Bregolin, Elisa, Minervini, Giovanni, Parodi, Sara, Salvatella, Xavier, Arrigoni, Giorgio, Ballabio, Andrea, La Spada, Albert R., Tosatto, Silvio C. E., Sambataro, Fabio, Medina, Diego L., Pandey, Udai B., Basso, Manuela, Pennuto, Maria

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36608116; info:eu-repo/semantics/altIdentifier/wos/WOS:000937027000007; volume:9; issue:1; firstpage:1; lastpage:20; numberofpages:20; journal:SCIENCE ADVANCES; https://hdl.handle.net/11577/3462523; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85145870213

الاتاحة: https://hdl.handle.net/11577/3462523
https://doi.org/10.1126/sciadv.ade1694

المؤلفون: Craig L. Bennett, Albert R. La Spada

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: 53BP1, ALS4, AOA2, helicase, nucleolus, Senataxin, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/2ba6ad389cec4212b4de18bdbefa11b3

المؤلفون: Anna F. Fusco, Logan A. Pucci, Pawel M. Switonski, Debolina D. Biswas, Angela L. McCall, Amanda F. Kahn, Justin S. Dhindsa, Laura M. Strickland, Albert R. La Spada, Mai K. ElMallah

المصدر: Disease Models & Mechanisms, Vol 14, Iss 7 (2021)

مصطلحات موضوعية: sca7, spinocerebellar ataxia type 7, respiratory, phrenic, hypoglossal, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/14/7/dmm048893; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/8c75ff01c0a146fcb49a77e3ba463d3f

المؤلفون: Jacob A. Parker, Shabbir H. Merchant, Sanaz Attaripour-Isfahani, Hyun Joo Cho, Patrick McGurrin, Brian P. Brooks, Albert R. La Spada, Mark Hallett, Laryssa A. Huryn, Silvina G. Horovitz

المصدر: NeuroImage: Clinical, Vol 29, Iss , Pp 102561- (2021)

مصطلحات موضوعية: Spinocerebellar Ataxia type 7, Ataxia, Diffusion tensor imaging, Neurodegeneration, MRI, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221315822100005X; https://doaj.org/toc/2213-1582

URL الوصول: https://doaj.org/article/0666bd62922b456a8d224f2b0b96fea8

المؤلفون: Craig L. Bennett, Bryce L. Sopher, Albert R. La Spada

المصدر: Heliyon, Vol 6, Iss 6, Pp e04165- (2020)

مصطلحات موضوعية: Cell biology, Genetics, Neuroscience, Infectious disease, Gene expression, Gene regulation, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844020310094; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/5106b0a6598e4f3fbab07ba321e5fb73

المؤلفون: Constanza J. Cortes, Albert R. La Spada

المصدر: Neurobiology of Disease, Vol 122, Iss , Pp 83-93 (2019)

مصطلحات موضوعية: Neurodegeneration, Autophagy, Transcription factor EB, Alzheimer's disease, Parkinson's disease, Huntington's disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996118301505; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/81e435fe3af64a5d99a3756a0fee1827

المؤلفون: H. Jürgen Wenzel, Karl D. Murray, Saif N. Haify, Michael R. Hunsaker, Jared J. Schwartzer, Kyoungmi Kim, Albert R. La Spada, Bryce L. Sopher, Paul J. Hagerman, Christopher Raske, Lies-Anne W.F.M. Severijnen, Rob Willemsen, Renate K. Hukema, Robert F. Berman

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-22 (2019)

مصطلحات موضوعية: FXTAS, Fragile X premutation, Mouse model, Neurodegeneration, Glia, RAN translation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-019-0677-7; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/4134f0078ae64270bd17af8e8378a6cd

المؤلفون: Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik

المصدر: Disease Models & Mechanisms, Vol 13, Iss 5 (2020)

مصطلحات موضوعية: sbma, androgen receptor, muscle, myopathy, neuromuscular disease, spinal and bulbar muscular atrophy, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/13/5/dmm042424; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/050cdc6b180d4a5a95c846082afd2ac2

المؤلفون: Cynthia L. Hsu, Elian X. Lee, Kara L. Gordon, Edwin A. Paz, Wen-Chuan Shen, Kohta Ohnishi, Jill Meisenhelder, Tony Hunter, Albert R. La Spada

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/0afb41f5096349c886cb519bbdbf6e4d

المؤلفون: Joe R Delaney, Chandni B Patel, Jaidev Bapat, Christian M Jones, Maria Ramos-Zapatero, Katherine K Ortell, Ralph Tanios, Mina Haghighiabyaneh, Joshua Axelrod, John W DeStefano, Isabelle Tancioni, David D Schlaepfer, Olivier Harismendy, Albert R La Spada, Dwayne G Stupack

المصدر: PLoS Genetics, Vol 16, Iss 1, p e1008558 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/f42e584000f74e659bc9e24835d7c355

المؤلفون: Rui Gao, Anirban Chakraborty, Charlene Geater, Subrata Pradhan, Kara L Gordon, Jeffrey Snowden, Subo Yuan, Audrey S Dickey, Sanjeev Choudhary, Tetsuo Ashizawa, Lisa M Ellerby, Albert R La Spada, Leslie M Thompson, Tapas K Hazra, Partha S Sarkar

المصدر: eLife, Vol 8 (2019)

مصطلحات موضوعية: Huntington's disease, polyglutamine, Transcription-Coupled DNA Repair, DNA damage, DNA damage response, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/42988; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/868605a660db461085d000609c271e4b