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Items: 1 to 20 of 76

1.
GFAP mutations, age at onset, and clinical subtypes in Alexander disease
M. Prust, J. Wang, H. Morizono, A. Messing, M. Brenner, E. Gordon, T. Hartka, A. Sokohl, R. Schiffmann, H. Gordish-Dressman, R. Albin, H. Amartino, K. Brockman, A. Dinopoulos, M.T. Dotti, D. Fain, R. Fernandez, J. Ferreira, J. Fleming, D. Gill, M. Griebel, H. Heilstedt, P. Kaplan, D. Lewis, M. Nakagawa, R. Pedersen, A. Reddy, Y. Sawaishi, M. Schneider, E. Sherr, Y. Takiyama, K. Wakabayashi, J.R. Gorospe, A. Vanderver
Neurology. 2011 Sep 27; 77(13): 1287–1294. doi: 10.1212/WNL.0b013e3182309f72
PMCID:
PMC3179649
AbstractArticlePDF–372K
2.
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature
Michito Namekawa, Yoshihisa Takiyama, Junko Honda, Haruo Shimazaki, Kumi Sakoe, Imaharu Nakano
BMC Neurol. 2010; 10: 21. Published online 2010 Apr 1. doi: 10.1186/1471-2377-10-21
PMCID:
PMC2873320
AbstractArticlePDF–531K
3.
A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis
Jung Mu Lee, Ae Suk Kim, Sun Ju Lee, Sung Min Cho, Dong Seok Lee, Sung Min Choi, Doo Kwun Kim, Chang Seok Ki, Jong Won Kim
J Korean Med Sci. 2006 Oct; 21(5): 954–957. Published online 2006 Oct 31. doi: 10.3346/jkms.2006.21.5.954
PMCID:
PMC2722014
AbstractArticlePDF–141K
4.
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
Michael C. Zody, Manuel Garber, David J. Adams, Ted Sharpe, Jennifer Harrow, James R. Lupski, Christine Nicholson, Steven M. Searle, Laurens Wilming, Sarah K. Young, Amr Abouelleil, Nicole R. Allen, Weimin Bi, Toby Bloom, Mark L. Borowsky, Boris E. Bugalter, Jonathan Butler, Jean L. Chang, Chao-Kung Chen, April Cook, Benjamin Corum, Christina A. Cuomo, Pieter J. de Jong, David DeCaprio, Ken Dewar, Michael FitzGerald, James Gilbert, Richard Gibson, Sante Gnerre, Steven Goldstein, Darren V. Grafham, Russell Grocock, Nabil Hafez, Daniel S. Hagopian, Elizabeth Hart, Catherine Hosage Norman, Sean Humphray, David B. Jaffe, Matt Jones, Michael Kamal, Varsha K. Khodiyar, Kurt LaButti, Gavin Laird, Jessica Lehoczky, Xiaohong Liu, Tashi Lokyitsang, Jane Loveland, Annie Lui, Pendexter Macdonald, John E. Major, Lucy Matthews, Evan Mauceli, Steven A. McCarroll, Atanas H. Mihalev, Jonathan Mudge, Cindy Nguyen, Robert Nicol, Sinéad B. O'Leary, Kazutoyo Osoegawa, David C. Schwartz, Charles Shaw-Smith, Pawel Stankiewicz, Charles Steward, David Swarbreck, Vijay Venkataraman, Charles A. Whittaker, Xiaoping Yang, Andrew R. Zimmer, Allan Bradley, Tim Hubbard, Bruce W. Birren, Jane Rogers, Eric S. Lander, Chad Nusbaum
Nature. Author manuscript; available in PMC 2008 Dec 29.
Published in final edited form as: Nature. 2006 Apr 20; 440(7087): 1045–1049. doi: 10.1038/nature04689
PMCID:
PMC2610434
AbstractArticlePDF–947K
5.
The full-ORF clone resource of the German cDNA Consortium
Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp
BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399
PMCID:
PMC2213676
AbstractArticlePDF–939K
6.
Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation
Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie N'guyen, Cyril Goizet, Antoinette Gelot, Robert Surtees, Jean-Michel Pedespan, Xavier Hernandorena, Monica Troncoso, Graziela Uziel, Albee Messing, Gérard Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug-Tanguy
Am J Hum Genet. 2001 Nov; 69(5): 1134–1140. Published online 2001 Sep 20. doi: 10.1086/323799
Correction in:
Am J Hum Genet. 2001 Dec; 69(6): 1413.
PMCID:
PMC1274357
AbstractArticlePDF–351K
7.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
8.
Changes in brain gene expression shared by scrapie and Alzheimer disease.
J R Duguid, C W Bohmont, N G Liu, W W Tourtellotte
Proc Natl Acad Sci U S A. 1989 Sep; 86(18): 7260–7264. doi: 10.1073/pnas.86.18.7260
PMCID:
PMC298037
SummaryPage BrowsePDF–1.1M
9.
Molecular cloning and primary structure of human glial fibrillary acidic protein.
S A Reeves, L J Helman, A Allison, M A Israel
Proc Natl Acad Sci U S A. 1989 Jul; 86(13): 5178–5182. doi: 10.1073/pnas.86.13.5178
PMCID:
PMC297581
SummaryPage BrowsePDF–1.3M
10.
Functional Significance of the Specific Sites Phosphorylated in Desmin at Cleavage Furrow: Aurora-B May Phosphorylate and Regulate Type III Intermediate Filaments during Cytokinesis Coordinatedly with Rho-kinase
Aie Kawajiri, Yoshihiro Yasui, Hidemasa Goto, Masaaki Tatsuka, Masahide Takahashi, Koh-ichi Nagata, Masaki Inagaki
Mol Biol Cell. 2003 Apr; 14(4): 1489–1500. doi: 10.1091/mbc.E02-09-0612
PMCID:
PMC153117
AbstractArticlePDF–1014K
11.
An RNA polymerase II promoter containing sequences upstream and downstream from the RNA startpoint that direct initiation of transcription from the same site.
Y Nakatani, M Brenner, E Freese
Proc Natl Acad Sci U S A. 1990 Jun; 87(11): 4289–4293. doi: 10.1073/pnas.87.11.4289
PMCID:
PMC54094
SummaryPage BrowsePDF–1.4M
12.
Lipids and lipoxidation in human brain aging. Mitochondrial ATP-synthase as a key lipoxidation target
Mariona Jové, Irene Pradas, Mayelin Dominguez-Gonzalez, Isidro Ferrer, Reinald Pamplona
Redox Biol. 2019 May; 23: 101082. Published online 2018 Dec 19. doi: 10.1016/j.redox.2018.101082
PMCID:
PMC6859548
AbstractArticlePDF–2.3M
13.
High‐throughput proteomic analysis of FFPE tissue samples facilitates tumor stratification
Yi Zhu, Tobias Weiss, Qiushi Zhang, Rui Sun, Bo Wang, Xiao Yi, Zhicheng Wu, Huanhuan Gao, Xue Cai, Guan Ruan, Tiansheng Zhu, Chao Xu, Sai Lou, Xiaoyan Yu, Ludovic Gillet, Peter Blattmann, Karim Saba, Christian D. Fankhauser, Michael B. Schmid, Dorothea Rutishauser, Jelena Ljubicic, Ailsa Christiansen, Christine Fritz, Niels J. Rupp, Cedric Poyet, Elisabeth Rushing, Michael Weller, Patrick Roth, Eugenia Haralambieva, Silvia Hofer, Chen Chen, Wolfram Jochum, Xiaofei Gao, Xiaodong Teng, Lirong Chen, Qing Zhong, Peter J. Wild, Ruedi Aebersold, Tiannan Guo
Mol Oncol. 2019 Nov; 13(11): 2305–2328. Published online 2019 Sep 18. doi: 10.1002/1878-0261.12570
PMCID:
PMC6822243
AbstractArticlePDF–6.5M
14.
Human amyloid-β enriched extracts: evaluation of in vitro and in vivo internalization and molecular characterization
Cristina M. Pedrero-Prieto, Alicia Flores-Cuadrado, Daniel Saiz-Sánchez, Isabel Úbeda-Bañón, Javier Frontiñán-Rubio, Francisco J. Alcaín, Lourdes Mateos-Hernández, José de la Fuente, Mario Durán-Prado, Margarita Villar, Alino Martínez-Marcos, Juan R. Peinado
Alzheimers Res Ther. 2019; 11: 56. Published online 2019 Jun 29. doi: 10.1186/s13195-019-0513-0
PMCID:
PMC6599264
AbstractArticlePDF–5.6M
15.
Investigating the Protein Signature of Adamantinomatous Craniopharyngioma Pediatric Brain Tumor Tissue: Towards the Comprehension of Its Aggressive Behavior
Claudia Martelli, Riccardo Serra, Ilaria Inserra, Diana Valeria Rossetti, Federica Iavarone, Federica Vincenzoni, Massimo Castagnola, Andrea Urbani, Gianpiero Tamburrini, Massimo Caldarelli, Luca Massimi, Claudia Desiderio
Dis Markers. 2019; 2019: 3609789. Published online 2019 May 2. doi: 10.1155/2019/3609789
PMCID:
PMC6525946
AbstractArticlePDF–1.3M
16.
Brain Citrullination Patterns and T Cell Reactivity of Cerebrospinal Fluid-Derived CD4+ T Cells in Multiple Sclerosis
Wolfgang Faigle, Carolina Cruciani, Witold Wolski, Bernd Roschitzki, Marco Puthenparampil, Paula Tomas-Ojer, Carla Sellés-Moreno, Thomas Zeis, Ivan Jelcic, Nicole Schaeren-Wiemers, Mireia Sospedra, Roland Martin
Front Immunol. 2019; 10: 540. Published online 2019 Apr 10. doi: 10.3389/fimmu.2019.00540
PMCID:
PMC6467957
AbstractArticlePDF–4.0M
17.
Large-scale proteomic analysis of human brain identifies proteins associated with cognitive trajectory in advanced age
Aliza P. Wingo, Eric B. Dammer, Michael S. Breen, Benjamin A. Logsdon, Duc M. Duong, Juan C. Troncosco, Madhav Thambisetty, Thomas G. Beach, Geidy E. Serrano, Eric M. Reiman, Richard J. Caselli, James J. Lah, Nicholas T. Seyfried, Allan I. Levey, Thomas S. Wingo
Nat Commun. 2019; 10: 1619. Published online 2019 Apr 8. doi: 10.1038/s41467-019-09613-z
PMCID:
PMC6453881
AbstractArticlePDF–2.1M
18.
Detection of BDNF-Related Proteins in Human Perilymph in Patients With Hearing Loss
Ines de Vries, Heike Schmitt, Thomas Lenarz, Nils Prenzler, Sameer Alvi, Hinrich Staecker, Martin Durisin, Athanasia Warnecke
Front Neurosci. 2019; 13: 214. Published online 2019 Mar 26. doi: 10.3389/fnins.2019.00214
PMCID:
PMC6445295
AbstractArticlePDF–2.4M
19.
High-Throughput Identification of the Plasma Proteomic Signature of Inflammatory Bowel Disease
Antonio F Di Narzo, Carrie Brodmerkel, Shannon E Telesco, Carmen Argmann, Lauren A Peters, Katherine Li, Brian Kidd, Joel Dudley, Judy Cho, Eric E Schadt, Andrew Kasarskis, Radu Dobrin, Ke Hao
J Crohns Colitis. 2019 Mar; 13(4): 462–471. Published online 2018 Nov 15. doi: 10.1093/ecco-jcc/jjy190
PMCID:
PMC6441306
AbstractArticlePDF–1.0M
20.
Hepatic protein Carbonylation profiles induced by lipid accumulation and oxidative stress for investigating cellular response to non-alcoholic fatty liver disease in vitro
Peerut Chienwichai, Onrapak Reamtong, Usa Boonyuen, Trairak Pisitkun, Poorichaya Somparn, Prapin Tharnpoophasiam, Suwalee Worakhunpiset, Supachai Topanurak
Proteome Sci. 2019; 17: 1. Published online 2019 Mar 27. doi: 10.1186/s12953-019-0149-9
PMCID:
PMC6438040
AbstractArticlePDF–2.7M

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