المؤلفون: Dutta, Debdeep^{Aff1, Aff2}, Kanca, Oguz^{Aff1, Aff2}, Byeon, Seul Kee, Marcogliese, Paul C.^{Aff1, Aff2, Aff8}, Zuo, Zhongyuan^{Aff1, Aff2}, Shridharan, Rishi V.^{Aff1, Aff2}, Park, Jun Hyoung, Lin, Guang^{Aff1, Aff2}, Ge, Ming^{Aff1, Aff2}, Heimer, Gali^{Aff4, Aff5}, Kohler, Jennefer N., Wheeler, Matthew T., Kaipparettu, Benny A., Pandey, Akhilesh^{Aff3, Aff7}, Bellen, Hugo J.^{Aff1, Aff2, IDs42255023008730_cor16}

المصدر: Nature Metabolism. 5(9):1595-1614

المؤلفون: Marcogliese, Paul C, Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi DP, Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A, Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D, Network, Undiagnosed Diseases, Pena, Loren DM, Yamamoto, Shinya, Nelson, Stanley F, Might, Matthew, Meyer, Kathrin C, Yeo, Nan Cher, Bellen, Hugo J

المصدر: Science Advances. 8(3)

مصطلحات موضوعية: Pediatric, Genetics, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Carrier Proteins, Child, Drosophila, Drosophila Proteins, Humans, Interferon Regulatory Factor-2, Nuclear Proteins, Proto-Oncogene Proteins, Wnt Signaling Pathway, Wnt1 Protein, Zebrafish

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URL الوصول: https://escholarship.org/uc/item/8sh3t8bg

المؤلفون: Accogli, Andrea^{Aff1, Aff2}, Lu, Shenzhao^{Aff3, Aff4, Aff5}, Musante, Ilaria^{Aff6, Aff7}, Scudieri, Paolo^{Aff6, Aff7}, Rosenfeld, Jill A., Severino, Mariasavina, Baldassari, Simona, Iacomino, Michele, Riva, Antonella, Balagura, Ganna, Piccolo, Gianluca^{Aff7, Aff9}, Minetti, Carlo^{Aff7, Aff9}, Roberto, Denis, Xia, Fan^{Aff3, Aff11}, Razak, Razaali, Lawrence, Emily, Hussein, Mohamed, Chang, Emmanuel Yih-Herng, Holick, Michelle^{Aff12, Aff16}, Calì, Elisa, Aliberto, Emanuela, De-Sarro, Rosalba, Gambardella, Antonio, Network, Undiagnosed Diseases, Group, SYNaPS Study, Emrick, Lisa^{Aff4, Aff12, Aff16}, McCaffery, Peter J. A., Clagett-Dame, Margaret^{Aff22, Aff23}, Marcogliese, Paul C.^{Aff3, Aff4}, Bellen, Hugo J.^{Aff3, Aff4, Aff5}, Lalani, Seema R.^{Aff3, Aff12}, Zara, Federico^{Aff6, Aff7}, Striano, Pasquale^{Aff7, Aff9}, Salpietro, Vincenzo^{Aff7, Aff9, Aff17, IDs12311022013793_cor34}

المصدر: The Cerebellum. 22(2):206-222

المؤلفون: Liao, Jenny Zhe^{Aff1, Aff2}, Chung, Hyung-lok^{Aff3, Aff4}, Shih, Claire^{Aff1, Aff2}, Wong, Kenneth Kin Lam^{Aff1, Aff8}, Dutta, Debdeep, Nil, Zelha, Burns, Catherine Grace, Kanca, Oguz, Park, Ye-Jin, Zuo, Zhongyuan, Marcogliese, Paul C.^{Aff5, Aff6}, Sew, Katherine^{Aff1, Aff2}, Bellen, Hugo J.^{Aff4, Aff7, IDs41467024476238_cor13}, Verheyen, Esther M.^{Aff1, Aff2, IDs41467024476238_cor14}

المصدر: Nature Communications. 15(1)

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المؤلفون: Ravenscroft, Thomas A, Janssens, Jasper, Lee, Pei-Tseng, Tepe, Burak, Marcogliese, Paul C, Makhzami, Samira, Holmes, Todd C, Aerts, Stein, Bellen, Hugo J

المصدر: Journal of Neuroscience. 40(42)

مصطلحات موضوعية: Neurosciences, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Action Potentials, Animals, Axon Initial Segment, Axons, Dendrites, Drosophila, Drosophila Proteins, Electrophysiological Phenomena, Electroretinography, Gene Expression, Larva, Neuromuscular Junction, Neurons, Patch-Clamp Techniques, Sodium Channels, Transcriptome, Voltage-Gated Sodium Channels, para, AIS, Distal Axonal Segment, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/08v5f93h

المؤلفون: Moulton, Matthew J., Barish, Scott, Ralhan, Isha, Chang, Jinlan, Goodman, Lindsey D., Harland, Jake G., Marcogliese, Paul C., Johansson, Jan O., Ioannou, Maria S., Bellen, Hugo J.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Dec . 118(52), 1-12.

URL الوصول: https://www.jstor.org/stable/27112757

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المؤلفون: Her, Yina, Pascual, Danielle M., Goldstone-Joubert, Zoe, Marcogliese, Paul C.

المصدر: Genome; 2024, Vol. 67 Issue 6, p158-167, 10p

مصطلحات موضوعية: DROSOPHILA, FUNCTIONAL assessment, DROSOPHILA melanogaster, GENETIC overexpression, GENETIC variation, DROSOPHILIDAE

المؤلفون: Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Diseases, Program for Undiagnosed, Callens, Steven, Coucke, Paul, Hemelsoet, Dimitri, Terryn, Wim, Van Coster, Rudy, Network, Undiagnosed Diseases, Adams, David R, Alejandro, Mercedes E, Allard, Patrick, Azamian, Mahshid S, Bacino, Carlos A, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dillon, Ani, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A

المصدر: American Journal of Human Genetics. 103(2)

مصطلحات موضوعية: Neurodegenerative, Brain Disorders, Neurosciences, Human Genome, Genetics, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Neurological, Program for Undiagnosed Diseases, Undiagnosed Diseases Network, C3HC4 RING finger, CG11138, Drosophila, EAP1, ataxia, developmental regression, hypotonia, neurodegeneration, pits, seizures, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

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URL الوصول: https://escholarship.org/uc/item/2sb1c8bg