Zobrazeno 1 - 10
of 1 420
pro vyhledávání: '"Gleeson J. G."'
Autor:
De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl
Autor:
Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmuller, J., Weixler, L., Nurnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., Gleeson, J. G.
Publikováno v:
American journal of human genetics, 108(12). Cell Press
(The American Journal of Human Genetics 103, 431–439; September 6, 2018) Lisa Weixler has been added to the author list for her experimental and scientific contributions to the biophysical analysis of wild-type and mutant proteins. Her contribution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8f7debc030c13d381b620c8dff41c4fd
https://research.vumc.nl/en/publications/fd026b05-2418-46f0-aba8-18fb4b7a3570
https://research.vumc.nl/en/publications/fd026b05-2418-46f0-aba8-18fb4b7a3570
Autor:
Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a “Dubowitz-like” condition, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::beaf6366973116d7cdc1b9682e35cc42
http://urn.fi/urn:nbn:fi-fe202301235225
http://urn.fi/urn:nbn:fi-fe202301235225
Autor:
Gleeson, J. G. A., Price, J. F.
Publikováno v:
BMJ: British Medical Journal, 1988 Jul . 297(6642), 163-166.
Externí odkaz:
https://www.jstor.org/stable/29700189
Autor:
Wang L; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Guo Q; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Acharya S; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Zheng X; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Huynh V; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Whitmore B; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Yimit A; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Malhotra M; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Chatterji S; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Rosin N; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Surgery, University of Calgary, Calgary, Alberta, Canada.; Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada., Labit E; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Surgery, University of Calgary, Calgary, Alberta, Canada.; Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada., Chipak C; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Gorzo K; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Haidey J; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Elliott DA; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Ram T; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada., Zhang Q; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Mathematics and Statistics, University of Calgary, Calgary, Alberta, Canada.; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alberta, Canada., Kuipers H; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neuroscience, University of Calgary, Calgary, Alberta, Canada., Gordon G; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada., Biernaskie J; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Surgery, University of Calgary, Calgary, Alberta, Canada.; Faculty of Veterinary Medicine, University of Calgary, Calgary, Alberta, Canada., Guo J; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Alberta, Canada. jiami.guo@ucalgary.ca.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada. jiami.guo@ucalgary.ca.; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada. jiami.guo@ucalgary.ca.; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. jiami.guo@ucalgary.ca.; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alberta, Canada. jiami.guo@ucalgary.ca.
Publikováno v:
Nature neuroscience [Nat Neurosci] 2024 Sep; Vol. 27 (9), pp. 1708-1720. Date of Electronic Publication: 2024 Aug 05.
Autor:
Refai O; Department of Biomedical Science, Florida Atlantic University, Boca Raton, Florida, USA., Rodriguez P; Department of Biomedical Science, Florida Atlantic University, Boca Raton, Florida, USA., Gichi Z; Department of Biomedical Science, Florida Atlantic University, Boca Raton, Florida, USA., Blakely RD; Department of Biomedical Science, Florida Atlantic University, Boca Raton, Florida, USA.; Stiles-Nicholson Brain Institute, Florida Atlantic University, Jupiter, Florida, USA.
Publikováno v:
Journal of neurochemistry [J Neurochem] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.
Publikováno v:
Tanaka, T; Serneo, F F; Higgins, C; Gambello, M J; Wynshaw-Boris, A; & Gleeson, J G. (2004). Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. Journal of Cell Biology, 165(5), 709-721. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1sj2607t
Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration defects, known as lissencephaly. To define subcellular mechanisms, we have combined in vitro neuronal migration assays with retroviral transduction. Overexpressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::9e5e287d71bf095f76c67290a6ebbf52
http://www.escholarship.org/uc/item/1sj2607t
http://www.escholarship.org/uc/item/1sj2607t
Akademický článek
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Autor:
Lee, Jh, Silhavy, Jl, Lee, Je, Al Gazali, L, Thomas, S, Davis, Ee, Bielas, Sl, Hill, Kj, Gabriel, Sb, Brancati, F, Iannicelli, M, Russ, C, Logan, Cv, Sharif, Sm, Bennett, Cp, Abe, M, Hildebrandt, F, Diplas, Bh, Attié Bitach, T, Katsanis, N, Rajab, A, Koul, R, Sztriha, L, Waters, E, Ferro Novick, S, Woods, Gc, Johnson, Ca, Valente, Enza Maria, Zaki, Ms, Gleeson, J. G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::bbd833e8e6c81cb0c5dec78a01cf5133
http://hdl.handle.net/11570/1938202
http://hdl.handle.net/11570/1938202
Autor:
Tang, Hai Xuan1 (AUTHOR), Lu, Y‐Thanh2 (AUTHOR), Ha, Thi Minh Thi3 (AUTHOR), Tran, Nhat‐Thang4 (AUTHOR), Dang, Doan Minh5 (AUTHOR), Ly, Son Xuan5 (AUTHOR), Bui, Thu Ha Thi5 (AUTHOR), Vo, Son Ta6 (AUTHOR), Thai, Minh Doan7 (AUTHOR), Nguyen, Vu Dinh8 (AUTHOR), Nguyen, Thong Van8 (AUTHOR), Dinh, Linh Thuy9 (AUTHOR), Luong, Lan‐Anh Thi10 (AUTHOR), Doan, Kim‐Phuong10 (AUTHOR), Nguyen, Kim Huong Thi2 (AUTHOR), Do, Thanh‐Thuy Thi2 (AUTHOR), Truong, Dinh‐Kiet2 (AUTHOR), Giang, Hoa2 (AUTHOR), Nguyen, Hoai‐Nghia2 (AUTHOR), Trinh, Thu Huong Nhut5 (AUTHOR) drnhuthuong@gmail.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-8. 8p.