Zobrazeno 1 - 10
of 1 487
pro vyhledávání: '"Barhum, Y."'
Autor:
Levy, Y.S., Bahat-Stroomza, M., Barzilay, R., Burshtein, A., Bulvik, S., Barhum, Y., Panet, H., Melamed, E., Offen, D.
Publikováno v:
In Cytotherapy 2008 10(4):340-352
Autor:
Kahana M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel., Weizman A; Research Unit at Geha Mental Health Center and the Laboratory of Biological Psychiatry, Felsenstein Medical Research Center, 4910002, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 6997801, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel-Aviv University, 6997801, Tel Aviv, Israel., Gabay M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel., Loboda Y; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel., Segal-Gavish H; Sackler Faculty of Medicine, Tel Aviv University, 6997801, Tel Aviv, Israel.; Laboratory of Neuroscience, Felsenstein Medical Research Center, 4910002, Petah Tikva, Israel.; The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 5262000, Israel., Gavish A; Sackler Faculty of Medicine, Tel Aviv University, 6997801, Tel Aviv, Israel.; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, 5262000, Israel., Barhum Y; Laboratory of Neuroscience, Felsenstein Medical Research Center, 4910002, Petah Tikva, Israel., Offen D; Sackler Faculty of Medicine, Tel Aviv University, 6997801, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel-Aviv University, 6997801, Tel Aviv, Israel.; Laboratory of Neuroscience, Felsenstein Medical Research Center, 4910002, Petah Tikva, Israel., Finberg J; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel., Allon N; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel., Gavish M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, 31096, Haifa, Israel. mgavish@technion.ac.il.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2021 Jun; Vol. 26 (6), pp. 2626-2632. Date of Electronic Publication: 2020 May 05.
Autor:
Lee, JYW, Hsu, C-K, Michael, M, Nanda, A, Liu, L, McMillan, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, SC, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H-Y, Lin, T-C, Akiyama, M, Lee, JYY, McLean, WHI, Simpson, MA, Parsons, M, McGrath, JA
Publikováno v:
Lee, J Y W, Hsu, C K, Michael, M, Nanda, A, Liu, L, McMillan, J R, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, S C, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H Y, Lin, T C, Akiyama, M, Lee, J Y Y, McLean, W H I, Simpson, M A, Parsons, M & McGrath, J A 2017, ' Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 ', American Journal of Human Genetics, vol. 100, no. 2, pp. 364-370 . https://doi.org/10.1016/j.ajhg.2017.01.014
SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a4284259470725b7f5834809ad7a7d
https://www.repository.cam.ac.uk/handle/1810/263193
https://www.repository.cam.ac.uk/handle/1810/263193
Autor:
Shih, Jing-Yuan1 (AUTHOR) rrichaard1998@gmail.com, Hsu, Yuan-Hao Howard1 (AUTHOR) howardhsu@thu.edu.tw
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p11075. 19p.
Autor:
Lombardo, Marta Tiffany1,2 (AUTHOR) m.lombardo17@campus.unimib.it, Gabrielli, Martina1 (AUTHOR) martina.gabrielli@in.cnr.it, Julien-Marsollier, Florence3 (AUTHOR) florence.julien@inserm.fr, Faivre, Valérie3 (AUTHOR) valerie.faivre@inserm.fr, Le Charpentier, Tifenn3 (AUTHOR) tifenn.lecharpentier@inserm.fr, Bokobza, Cindy3 (AUTHOR) juliette.van-steenwinckel@inserm.fr, D'Aliberti, Deborah4 (AUTHOR) deborah.daliberti@unimib.it, Pelizzi, Nicola5 (AUTHOR) n.pelizzi@chiesi.com, Halimi, Camilla1 (AUTHOR) camilla.halimi@studenti.unimi.it, Spinelli, Silvia4 (AUTHOR) silvia.spinelli@unimib.it, Van Steenwinckel, Juliette3 (AUTHOR) pierre.gressens@inserm.fr, Verderio, Elisabetta A. M.6,7 (AUTHOR) elisabetta.verderio-edwards@ntu.ac.uk, Gressens, Pierre3 (AUTHOR), Piazza, Rocco4 (AUTHOR) rocco.piazza@unimib.it, Verderio, Claudia1 (AUTHOR) claudia.verderio@in.cnr.it
Publikováno v:
Cells (2073-4409). Oct2024, Vol. 13 Issue 19, p1665. 20p.
Autor:
Jiménez-Jiménez, Félix Javier1 (AUTHOR) fjavier.jimenez@salud.madrid.org, Alonso-Navarro, Hortensia1 (AUTHOR) paula.salgado@salud.madrid.org, Salgado-Cámara, Paula1 (AUTHOR), García-Martín, Elena2 (AUTHOR) elenag@unex.es, Agúndez, José A. G.2 (AUTHOR) jagundez@unex.es
Publikováno v:
Biomolecules (2218-273X). Oct2024, Vol. 14 Issue 10, p1266. 48p.
Autor:
Ganz J; Department of Human Molecular Genetics and Biochemistry, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel., Shacham T; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Kramer M; School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Shenkman M; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Eiger H; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Weinberg N; Department of Human Molecular Genetics and Biochemistry, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel., Iancovici O; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Roy S; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Simhaev L; Blavatnik Center for Drug Discovery, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Da'adoosh B; Blavatnik Center for Drug Discovery, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Engel H; Blavatnik Center for Drug Discovery, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Perets N; Department of Human Molecular Genetics and Biochemistry, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel., Barhum Y; Department of Human Molecular Genetics and Biochemistry, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel., Portnoy M; School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Tel Aviv, 69978, Israel., Offen D; Department of Human Molecular Genetics and Biochemistry, Felsenstein Medical Research Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel., Lederkremer GZ; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, 69978, Israel. gerardol@tauex.tau.ac.il.; School of Molecular Cell Biology and Biotechnology, George Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel. gerardol@tauex.tau.ac.il.
Publikováno v:
Scientific reports [Sci Rep] 2020 Apr 23; Vol. 10 (1), pp. 6875. Date of Electronic Publication: 2020 Apr 23.
Autor:
Mușat, Mădălina Iuliana1 (AUTHOR) madalina.musat3@gmail.com, Cătălin, Bogdan1 (AUTHOR) aurel.popa-wagner@geriatrics-healthyageing.com, Hadjiargyrou, Michael2 (AUTHOR) bogdan.catalin@umfcv.ro, Popa-Wagner, Aurel1,3 (AUTHOR), Greșiță, Andrei1,4 (AUTHOR)
Publikováno v:
Life (2075-1729). Sep2024, Vol. 14 Issue 9, p1110. 31p.
Autor:
Bastioli, Guendalina1 (AUTHOR) bastioli.guendalina@hsr.it, Piccirillo, Silvia2 (AUTHOR) l.graciotti@staff.univpm.it, Graciotti, Laura2 (AUTHOR) marianna.carone@chem.ethz.ch, Carone, Marianna2,3 (AUTHOR) s1112352@pm.univpm.it, Sprega, Giorgia2 (AUTHOR) omayema.taoussi@gmail.com, Taoussi, Omayema2 (AUTHOR) a.preziuso@staff.univpm.it, Preziuso, Alessandra2 (AUTHOR), Castaldo, Pasqualina2 (AUTHOR) s.piccirillo@staff.univpm.it
Publikováno v:
Cells (2073-4409). Aug2024, Vol. 13 Issue 15, p1301. 20p.
Autor:
Røsand, Øystein1 (AUTHOR) oystein.rosand@ntnu.no, Wang, Jianxiang1 (AUTHOR), Scrimgeour, Nathan1 (AUTHOR), Marwarha, Gurdeep1 (AUTHOR), Høydal, Morten Andre1 (AUTHOR) morten.hoydal@ntnu.no
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8460. 22p.