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Items: 1 to 20 of 246

1.
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
Matthias Kettwig, Orly Elpeleg, Eike Wegener, Steffi Dreha-Kulaczewski, Marco Henneke, Jutta Gärtner, Peter Huppke
BMC Neurol. 2016; 16: 74. Published online 2016 May 21. doi: 10.1186/s12883-016-0602-7
PMCID:
PMC4875637
AbstractArticlePDF–3.5M
2.
Assembly of CNS Nodes of Ranvier in Myelinated Nerves Is Promoted by the Axon Cytoskeleton
Veronica Brivio, Catherine Faivre-Sarrailh, Elior Peles, Diane L. Sherman, Peter J. Brophy
Curr Biol. 2017 Apr 3; 27(7): 1068–1073. doi: 10.1016/j.cub.2017.01.025
PMCID:
PMC5387178
AbstractArticlePDF–1.8M
3.
Disruption of Nectin-Like 1 Cell Adhesion Molecule Leads to Delayed Axonal Myelination in the CNS
Jinsil Park, Ben Liu, Tao Chen, Hong Li, Xuemei Hu, Jing Gao, Ying Zhu, Qiang Zhu, Boqin Qiang, Jiangang Yuan, Xiaozhong Peng, Mengsheng Qiu
J Neurosci. 2008 Nov 26; 28(48): 12815–12819. doi: 10.1523/JNEUROSCI.2665-08.2008
PMCID:
PMC2728619
AbstractArticlePDF–406K
4.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi
Am J Hum Genet. 2017 Feb 2; 100(2): 343–351. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2016.12.013
PMCID:
PMC5294886
AbstractArticlePDF–1.8M
5.
Abnormal expression of myelination genes and white matter volume abnormalities following prenatal viral influenza infection at E16 in mice
S. Hossein Fatemi, Timothy D. Folsom, Teri J. Reutiman, Desiree Abu-Odeh, Susumu Mori, Hao Huang, Kenichi Oishi
Schizophr Res. Author manuscript; available in PMC 2010 Jul 1.
Published in final edited form as: Schizophr Res. 2009 Jul; 112(1-3): 46–53. Published online 2009 May 31. doi: 10.1016/j.schres.2009.04.014
PMCID:
PMC2735410
AbstractArticlePDF–472K
6.
Psychotropic drugs up-regulate the expression of cholesterol transport proteins including ApoE in cultured human CNS- and liver cells
Audun O Vik-Mo, Johan Fernø, Silje Skrede, Vidar M Steen
BMC Pharmacol. 2009; 9: 10. Published online 2009 Aug 29. doi: 10.1186/1471-2210-9-10
PMCID:
PMC2753324
AbstractArticlePDF–837K
7.
Intra-amniotic LPS causes acute neuroinflammation in preterm rhesus macaques
Augusto F. Schmidt, Paranthaman S. Kannan, Claire A. Chougnet, Steve C. Danzer, Lisa A. Miller, Alan H. Jobe, Suhas G. Kallapur
J Neuroinflammation. 2016; 13(1): 238. Published online 2016 Sep 6. doi: 10.1186/s12974-016-0706-4
PMCID:
PMC5011884
AbstractArticlePDF–3.1M
8.
Transplantation of human neural stem cells transduced with Olig2 transcription factor improves locomotor recovery and enhances myelination in the white matter of rat spinal cord following contusive injury
Dong H Hwang, Byung G Kim, Eun J Kim, Seung I Lee, In S Joo, Haeyoung Suh-Kim, Seonghyang Sohn, Seung U Kim
BMC Neurosci. 2009; 10: 117. Published online 2009 Sep 22. doi: 10.1186/1471-2202-10-117
PMCID:
PMC2758886
AbstractArticlePDF–1.6M
9.
Laminin Alters Fyn Regulatory Mechanisms and Promotes Oligodendrocyte Development
Jenne Relucio, Iva D. Tzvetanova, Wei Ao, Sabine Lindquist, Holly Colognato
J Neurosci. 2009 Sep 23; 29(38): 11794–11806. doi: 10.1523/JNEUROSCI.0888-09.2009
PMCID:
PMC2789400
AbstractArticlePDF–20M
10.
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
Jonathan D. J. Labonne, Tyler D. Graves, Yiping Shen, Julie R. Jones, Il-Keun Kong, Lawrence C. Layman, Hyung-Goo Kim
BMC Neurol. 2016; 16: 132. Published online 2016 Aug 9. doi: 10.1186/s12883-016-0642-z
PMCID:
PMC4979147
AbstractArticlePDF–2.5M
11.
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen, Fowzan S. Alkuraya
BMC Neurol. 2016; 16: 105. Published online 2016 Jul 15. doi: 10.1186/s12883-016-0633-0
PMCID:
PMC4947274
AbstractArticlePDF–1.4M
12.
Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum
Andre Teigler, Dorde Komljenovic, Andreas Draguhn, Karin Gorgas, Wilhelm W. Just
Hum Mol Genet. 2009 Jun 1; 18(11): 1897–1908. Published online 2009 Mar 8. doi: 10.1093/hmg/ddp110
PMCID:
PMC2722228
AbstractArticlePDF–848K
13.
nkx2.2a promotes specification and differentiation of a myelinating subset of oligodendrocyte lineage cells in zebrafish
SARAH KUCENAS, HEATHER SNELL, BRUCE APPEL
Neuron Glia Biol. Author manuscript; available in PMC 2010 Feb 12.
Published in final edited form as: Neuron Glia Biol. 2008 May; 4(2): 71. doi: 10.1017/S1740925X09990123
PMCID:
PMC2821284
AbstractArticlePDF–2.2M
14.
The Activators of Cyclin-Dependent Kinase 5 p35 and p39 Are Essential for Oligodendrocyte Maturation, Process Formation, and Myelination
Fucheng Luo, Jessie Zhang, Kathryn Burke, Robert H. Miller, Yan Yang
J Neurosci. 2016 Mar 9; 36(10): 3024–3037. doi: 10.1523/JNEUROSCI.2250-15.2016
PMCID:
PMC4783501
AbstractArticlePDF–8.0M
15.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth
Brain. 2016 Mar; 139(3): 765–781. Published online 2016 Feb 17. doi: 10.1093/brain/awv393
PMCID:
PMC4766378
AbstractArticlePDF–1.7M
16.
THE NG2 PROTEOGLYCAN PROMOTES OLIGODENDROCYTE PROGENITOR PROLIFERATION AND DEVELOPMENTAL MYELINATION
Karolina Kucharova, William B. Stallcup
Neuroscience. Author manuscript; available in PMC 2011 Mar 10.
Published in final edited form as: Neuroscience. 2010 Mar 10; 166(1): 185–194. Published online 2009 Dec 16. doi: 10.1016/j.neuroscience.2009.12.014
PMCID:
PMC2847446
AbstractArticlePDF–1.9M
17.
Amelioration of Enteric Neuropathology in a Mouse Model of Niemann-Pick C by Npc1 Expression in Enteric Glia
Raj Kapur, Carolyn Donohue, David Jelinek, Robert P. Erickson
J Neurosci Res. Author manuscript; available in PMC 2010 Oct 1.
Published in final edited form as: J Neurosci Res. 2009 Oct; 87(13): 2994–3001. doi: 10.1002/jnr.22126
PMCID:
PMC2853225
AbstractArticlePDF–777K
18.
Systemic dendrimer-drug treatment of ischemia-induced neonatal white matter injury
Elizabeth Nance, Michael Porambo, Fan Zhang, Manoj K. Mishra, Markus Buelow, Rachel Getzenberg, Michael Johnston, Kannan Rangaramanujam, Ali Fatemi, Sujatha Kannan
J Control Release. Author manuscript; available in PMC 2016 Sep 28.
Published in final edited form as: J Control Release. 2015 Sep 28; 214: 112–120. Published online 2015 Jul 13. doi: 10.1016/j.jconrel.2015.07.009
PMCID:
PMC4732874
AbstractArticlePDF–2.8M
19.
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
Roberta La Piana, Carla Uggetti, Federico Roncarolo, Adeline Vanderver, Ivana Olivieri, Davide Tonduti, Guy Helman, Umberto Balottin, Elisa Fazzi, Yanick J. Crow, John Livingston, Simona Orcesi
Neurology. 2016 Jan 5; 86(1): 28–35. doi: 10.1212/WNL.0000000000002228
PMCID:
PMC4731289
AbstractArticlePDF–628K
20.
A Multimodal Assessment of the Genetic Control over Working Memory
Katherine H. Karlsgodt, Peter Kochunov, Anderson M. Winkler, Angela R. Laird, Laura Almasy, Ravindranath Duggirala, Rene L. Olvera, Peter T. Fox, John Blangero, David C. Glahn
J Neurosci. 2010 Jun 16; 30(24): 8197–8202. doi: 10.1523/JNEUROSCI.0359-10.2010
PMCID:
PMC2894480
AbstractArticlePDF–364K

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