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Items: 11

1.
Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes
Huijie Feng, Casandra L. Larrivee, Elena Y. Demireva, Huirong Xie, Jeff R. Leipprandt, Richard R. Neubig
PLoS One. 2019; 14(1): e0211066. Published online 2019 Jan 25. doi: 10.1371/journal.pone.0211066
Retraction in:
PLoS One. 2021; 16(10): e0258912.
PMCID:
PMC6347370
AbstractArticle
2.
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations
Huijie Feng, Benita Sjögren, Behirda Karaj, Vincent Shaw, Aysegul Gezer, Richard R. Neubig
Neurology. 2017 Aug 22; 89(8): 762–770. doi: 10.1212/WNL.0000000000004262
PMCID:
PMC5580866
AbstractArticlePDF–574K
3.
Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16.
J J Murtagh, Jr, R Eddy, T B Shows, J Moss, M Vaughan
Mol Cell Biol. 1991 Feb; 11(2): 1146–1155. doi: 10.1128/mcb.11.2.1146
PMCID:
PMC359797
SummaryPage BrowsePDF–2.3M
4.
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz
Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2
PMCID:
PMC6660700
AbstractArticlePDF–980K
5.
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman
PLoS One. 2018; 13(2): e0191228. Published online 2018 Feb 1. doi: 10.1371/journal.pone.0191228
PMCID:
PMC5794057
AbstractArticlePDF–1.8M
6.
Genomic variants link to hepatitis C racial disparities
Matthew M. Yeh, Sarag Boukhar, Benjamin Roberts, Nairanjana Dasgupta, Sayed S. Daoud
Oncotarget. 2017 Aug 29; 8(35): 59455–59475. Published online 2017 Aug 1. doi: 10.18632/oncotarget.19755
PMCID:
PMC5601746
AbstractArticlePDF–6.3M
7.
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J. Carss, F. Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C. Dale, Shekeeb S. Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A. Kurian, Renzo Guerrini
Neurol Genet. 2017 Apr; 3(2): e143. Published online 2017 Mar 21. doi: 10.1212/NXG.0000000000000143
PMCID:
PMC5362187
AbstractArticlePDF–762K
8.
Molecular Characterization of Antigen-Peptide Pulsed Dendritic Cells: Immature Dendritic Cells Develop a Distinct Molecular Profile when Pulsed with Antigen Peptide
Amy X. Yang, Numju Chong, Yufei Jiang, Jennifer Catalano, Raj K. Puri, Samir N. Khleif
PLoS One. 2014; 9(1): e86306. Published online 2014 Jan 27. doi: 10.1371/journal.pone.0086306
PMCID:
PMC3903525
AbstractArticlePDF–1.1M
9.
Gene Expression Profile of Glioblastoma Peritumoral Tissue: An Ex Vivo Study
Annunziato Mangiola, Nathalie Saulnier, Pasquale De Bonis, Daniela Orteschi, Gigliola Sica, Gina Lama, Benedetta Ludovica Pettorini, Giovanni Sabatino, Marcella Zollino, Libero Lauriola, Anna Colabianchi, Gabriella Proietti, Gyula Kovacs, Giulio Maira, Carmelo Anile
PLoS One. 2013; 8(3): e57145. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0057145
PMCID:
PMC3589444
AbstractArticlePDF–10M
10.
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Am J Hum Genet. 2009 Nov 13; 85(5): 720–729. doi: 10.1016/j.ajhg.2009.10.013
PMCID:
PMC2775830
AbstractArticlePDF–760K
11.
Modulation of Skeletal Muscle Insulin Signaling With Chronic Caloric Restriction in Cynomolgus Monkeys
Zhong Q. Wang, Z. Elizabeth Floyd, Jianhua Qin, Xiaotuan Liu, Yongmei Yu, Xian H. Zhang, Janice D. Wagner, William T. Cefalu
Diabetes. 2009 Jul; 58(7): 1488–1498. Published online 2009 Mar 31. doi: 10.2337/db08-0977
PMCID:
PMC2699875
AbstractArticlePDF–367K

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