PMC Links for Nucleotide (Select 1775678342) - PMC

Select item 63477461.

Potential biomarkers of acute myocardial infarction based on weighted gene co-expression network analysis

Zhihua Liu, Chenguang Ma, Junhua Gu, Ming Yu

Biomed Eng Online. 2019; 18: 9. Published online 2019 Jan 25. doi: 10.1186/s12938-019-0625-6

PMCID:: PMC6347746

Select item 59009992.

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts

Mohit Dubey, Eelke Brouwers, Eline M.C. Hamilton, Oliver Stiedl, Marianna Bugiani, Henner Koch, Maarten H.P. Kole, Ursula Boschert, Robert C. Wykes, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min

Ann Neurol. 2018 Mar; 83(3): 636–649. Published online 2018 Mar 13. doi: 10.1002/ana.25190

PMCID:: PMC5900999

Abstract Article PDF–1.0M

Select item 12756363.

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Peter A. J. Leegwater, Bao Qiang Yuan, Jeffrey van der Steen, Joyce Mulders, Andrea A. M. Könst, P. K. Ilja Boor, Vlatka Mejaski-Bosnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B. M. Oudejans, Ruud B. H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap

Am J Hum Genet. 2001 Apr; 68(4): 831–838. Published online 2001 Mar 6. doi: 10.1086/319519

PMCID:: PMC1275636

Abstract Article PDF–571K

Select item 69566324.

A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient

A Türkyılmaz, O Ünver, G Ekinci, D Türkdoğan

Balkan J Med Genet. 2019 Dec; 22(2): 89–92. Published online 2019 Dec 21. doi: 10.2478/bjmg-2019-0019

PMCID:: PMC6956632

Abstract Article PDF–1016K

Select item 49139515.

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

Binbin Cao, Huifang Yan, Mangmang Guo, Han Xie, Ye Wu, Qiang Gu, Jiangxi Xiao, Jing Shang, Yanling Yang, Hui Xiong, Zhengping Niu, Xiru Wu, Yuwu Jiang, Jingmin Wang

PLoS One. 2016; 11(6): e0157258. Published online 2016 Jun 20. doi: 10.1371/journal.pone.0157258

PMCID:: PMC4913951

Abstract Article PDF–3.4M

Select item 35026946.

Transcriptomic Analysis of Postmortem Brain identifies Dysregulated Splicing Events in Novel Candidate Genes for Schizophrenia

Ori S. Cohen, Sarah Y. Mccoy, Frank A. Middleton, Sean Bialosuknia, Yanli Zhang-James, Lu Liu, Ming T. Tsuang, Stephen V. Faraone, Stephen J. Glatt

Schizophr Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Schizophr Res. 2012 Dec; 142(1-3): 188–199. Published online 2012 Oct 9. doi: 10.1016/j.schres.2012.09.015

PMCID:: PMC3502694

Abstract Article PDF–678K

Select item 32939207.

Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Han Xie, Jingmin Wang, Ajit Singh Dhaunchak, Jing Shang, Liping Kou, Mangmang Guo, Ye Wu, Qiang Gu, David Colman, Xiru Wu, Yuwu Jiang

PLoS One. 2012; 7(3): e33087. Published online 2012 Mar 5. doi: 10.1371/journal.pone.0033087

PMCID:: PMC3293920

Abstract Article PDF–624K

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