Zobrazeno 1 - 10
of 867
pro vyhledávání: '"Barkovich AJ"'
Autor:
D'Arco, F, Alves, CA, Raybaud, C, Chong, WKK, Ishak, GE, Ramji, S, Grima, M, Barkovich, AJ, Ganesan, V
Publikováno v:
AJNR. American journal of neuroradiology, vol 39, iss 11
Background and purposeArg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid art
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::91d2fd4d41ca64e03cf21c244580b116
https://escholarship.org/uc/item/04t5z7n3
https://escholarship.org/uc/item/04t5z7n3
Autor:
Bonham, LW, Karch, CM, Fan, CC, Tan, C, Geier, EG, Wang, Y, Wen, N, Broce, IJ, Li, Y, Barkovich, MJ, Ferrari, R, Hardy, J, Momeni, P, Höglinger, G, Müller, U, Hess, CP, Sugrue, LP, Dillon, WP, Schellenberg, GD, Miller, BL, Andreassen, OA, Dale, AM, Barkovich, AJ, Yokoyama, JS, Desikan, RS, Hernandez, DG, Nalls, MA, Rohrer, JD, Ramasamy, A, Kwok, JBJ, Dobson-Stone, C, Schofield, PR, Halliday, GM, Hodges, JR, Piguet, O, Bartley, L, Thompson, E, Haan, E, Hernández, I, Ruiz, A, Boada, M, Borroni, B, Padovani, A, Cruchaga, C, Cairns, NJ, Benussi, L, Binetti, G, Ghidoni, R, Forloni, G, Albani, D, Galimberti, D, Fenoglio, C, Serpente, M, Scarpini, E, Clarimón, J, Lleó, A, Blesa, R, Waldö, ML, Nilsson, K, Nilsson, C, MacKenzie, IRA, Hsiung, GYR, Mann, DMA, Grafman, J, Morris, CM, Attems, J, Griffiths, TD, McKeith, IG, Thomas, AJ, Pietrini, P, Huey, ED, Wassermann, EM, Baborie, A, Jaros, E, Tierney, MC, Pastor, P, Razquin, C, Ortega-Cubero, S, Alonso, E, Perneczky, R, Diehl-Schmid, J, Alexopoulos, P, Kurz, A, Rainero, I, Rubino, E, Pinessi, L, Rogaeva, E, George-Hyslop, PS, Rossi, G, Tagliavini, F, Giaccone, G, Rowe, JB, Schlachetzki, JCM, Uphill, J, Collinge, J, Mead, S, Danek, A, Van Deerlin, VM
Publikováno v:
Bonham, LW; Karch, CM; Fan, CC; Tan, C; Geier, EG; Wang, Y; et al.(2018). CXCR4 involvement in neurodegenerative diseases. Translational Psychiatry, 8(1). doi: 10.1038/s41398-017-0049-7. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/3br131m2
© 2017 The Author(s). Neurodegenerative diseases likely share common underlying pathobiology. Although prior work has identified susceptibility loci associated with various dementias, few, if any, studies have systematically evaluated shared genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d3091c3a1c07d4f5f93b94dc0537ea
Autor:
Wintermark, M, Hills, NK, DeVeber, GA, Barkovich, AJ, Bernard, TJ, Friedman, NR, Mackay, MT, Kirton, A, Zhu, G, Leiva-Salinas, C, Hou, Q, Fullerton, HJ, VIPS Investigators
Publikováno v:
AJNR. American journal of neuroradiology, vol 38, iss 11
Background and purposeChildhood arteriopathies are rare but heterogenous, and difficult to diagnose and classify, especially by nonexperts. We quantified clinical and imaging characteristics associated with childhood arteriopathy subtypes to facilita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0706c28bdaa255f16bb973f2c0ad024c
https://escholarship.org/uc/item/44v7x447
https://escholarship.org/uc/item/44v7x447
Autor:
Ferriero, Donna, Tam, EWY, Chau, V, Barkovich, AJ, Ferriero, DM, Miller, SP, Rogers, EE, Grunau, RE, Synnes, AR, Xu, D, Foong, J
Publikováno v:
Ferriero, Donna; Tam, EWY; Chau, V; Barkovich, AJ; Ferriero, DM; Miller, SP; et al.(2016). Early postnatal docosahexaenoic acid levels and improved preterm brain development. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8dp183dg
© 2016 International Pediatric Research Foundation, Inc.Preterm birth has a dramatic impact on polyunsaturated fatty acid exposures for the developing brain. This study examined the association between postnatal fatty acid levels and measures of bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::75b049f13b777260a306116ede1d6853
http://www.escholarship.org/uc/item/8dp183dg
http://www.escholarship.org/uc/item/8dp183dg
Autor:
Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a globa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::98293f0999c69ed9d20eac332c60a6ef
Autor:
Barkovich Aj, Erin M. Simon
Publikováno v:
Magnetic Resonance Imaging Clinics of North America. 9:149-164
Holoprosencephaly represents a broad spectrum of malformations resulting from a lack of separation of the structures of the forebrain. Recent discoveries in the fields of genetics and developmental neurobiology have advanced our knowledge of this com
Publikováno v:
Journal of Child Neurology. 14:628-635
This article examines the magnetic resonance imaging features that typify the Joubert malformation. Specific morphologic features include: (1) dysgenesis of the isthmic portion of the brain stem at the pontomesencephalic junction, (2) abnormally thic
Autor:
Barkovich, Anthony, Xu, Duan, McQuillen, Patrick, Tabbutt, Sarah, Sethi, V, Dimitropoulos, A, Harris, KC, Chau, V, Poskitt, K, Campbell, A, Azakie, A, Barkovich, AJ
Publikováno v:
Barkovich, Anthony; Xu, Duan; McQuillen, Patrick; Tabbutt, Sarah; Sethi, V; Dimitropoulos, A; et al.(2013). Single-ventricle anatomy predicts delayed microstructural brain development. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/5j59z464
Background: Term newborns with congenital heart disease (CHD) show delayed brain development as early as the third trimester, especially in single-ventricle physiology (SVP). Mechanisms causing delayed brain development in CHD are uncertain but may i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::dfe71c17d6f6e673e910cc72e356d511
http://www.escholarship.org/uc/item/5j59z464
http://www.escholarship.org/uc/item/5j59z464
Publikováno v:
Barkovich, Anthony; Shiba, N; Daza, RAM; Shaffer, LG; Barkovich, AJ; Dobyns, WB; et al.(2013). Neuropathology of brain and spinal malformations in a case of monosomy 1p36. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8tt7t22v
Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular heterotopia, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::55f26d7c500a729a347e3b1814bf95e2
http://www.escholarship.org/uc/item/8tt7t22v
http://www.escholarship.org/uc/item/8tt7t22v
Autor:
Gupta, N, Henry, RG, Strober, J, Kang, SM, Lim, DA, Bucci, M, Caverzasi, E, Gaetano, L, Mandelli, ML, Ryan, T, Perry, R, Farrell, J, Jeremy, RJ, Ulman, M, Huhn, SL, Barkovich, AJ, Rowitch, DH
Publikováno v:
Science Translational Medicine, vol 4, iss 165
Gupta, N; Henry, RG; Strober, J; Kang, SM; Lim, DA; Bucci, M; et al.(2012). Neural stem cell engraftment and myelination in the human brain (Science Translational Medicine (1988) 17, (351-360)). Science Translational Medicine, 4(165). doi: 10.1126/scitranslmed.3005470. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/2ns4g0w6
Gupta, N; Henry, RG; Strober, J; Kang, SM; Lim, DA; Bucci, M; et al.(2012). Neural stem cell engraftment and myelination in the human brain (Science Translational Medicine (1988) 17, (351-360)). Science Translational Medicine, 4(165). doi: 10.1126/scitranslmed.3005470. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/2ns4g0w6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::da0a364de3603ec13f9fa2740097629c
https://escholarship.org/uc/item/2ns4g0w6
https://escholarship.org/uc/item/2ns4g0w6