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Select item 44795251.

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Sietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, Enrico Bertini, Karen Sperle, Mark Tarnopolsky, Davide Tonduti, Enza Maria Valente, Lorena Travaglini, Erik A Sistermans, Geneviève Bernard, Coriene E Catsman-Berrevoets, Clara D M van Karnebeek, John R Østergaard, Richard L Friederich, Mahmoud Fawzi Elsaid, Jolanda H Schieving, Maja Tarailo-Graovac, Simona Orcesi, Marjan E Steenweg, Carola G M van Berkel, Quinten Waisfisz, Truus E M Abbink, Marjo S van der Knaap, Grace M Hobson, Nicole I Wolf

Ann Clin Transl Neurol. 2015 Jun; 2(6): 648–661. Published online 2015 May 1. doi: 10.1002/acn3.203

PMCID:: PMC4479525

Abstract Article PDF–852K

Select item 68000982.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehead, Steven A. Moore, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: J Child Neurol. 2018 Sep; 33(10): 642–650. Published online 2018 Jun 8. doi: 10.1177/0883073818776157

PMCID:: PMC6800098

Abstract Article PDF–1.9M

Select item 33128793.

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D. Duncan, Federico Zara, Hauke B. Werner, Michael P. Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti

PLoS One. 2012; 7(3): e32180. Published online 2012 Mar 26. doi: 10.1371/journal.pone.0032180

PMCID:: PMC3312879

Abstract Article PDF–1.6M

Select item 85055764.

Acquisition of Developmental Milestones in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Francesco Gavazzi, Brittany A. Charsar, Catherine Williams, Justine Shults, Cesar A. Alves, Laura Adang, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2022 Apr 12.

Published in final edited form as: J Child Neurol. 2021 Sep; 36(10): 805–811. doi: 10.1177/08830738211000977

PMCID:: PMC8505576

Abstract Article PDF–1.2M

Select item 85533225.

Prenatal overexpression of platelet‐derived growth factor receptor A results in central nervous system hypomyelination

Herminio Joey Cardona, Agila Somasundaram, Donna M. Crabtree, Samantha L. Gadd, Oren J. Becher

Brain Behav. 2021 Oct; 11(10): e2332. Published online 2021 Sep 4. doi: 10.1002/brb3.2332

PMCID:: PMC8553322

Abstract Article PDF–8.1M

Select item 48442376.

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy K. Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee T. Poll-Thé, Chirag Patel, Helen Cox, Tahir Atik, Huseyin Onay, Ferda Ozkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

Neurology. 2016 Apr 26; 86(17): 1622–1626. doi: 10.1212/WNL.0000000000002612

PMCID:: PMC4844237

Abstract Article PDF–362K

Select item 85708337.

CNS Hypomyelination Disrupts Axonal Conduction and Behavior in Larval Zebrafish

M. E. Madden, D. Suminaite, E. Ortiz, J. J. Early, S. Koudelka, M. R. Livesey, I. H. Bianco, M. Granato, D. A. Lyons

J Neurosci. 2021 Nov 3; 41(44): 9099–9111. doi: 10.1523/JNEUROSCI.0842-21.2021

PMCID:: PMC8570833

Abstract Article PDF–3.9M

Select item 85950638.

Melatonin Ameliorates Axonal Hypomyelination of Periventricular White Matter by Transforming A1 to A2 Astrocyte via JAK2/STAT3 Pathway in Septic Neonatal Rats

Shuqi Jiang, Huifang Wang, Qiuping Zhou, Qian Li, Nan Liu, Zhenggong Li, Chunbo Chen, Yiyu Deng

J Inflamm Res. 2021; 14: 5919–5937. Published online 2021 Nov 12. doi: 10.2147/JIR.S337499

PMCID:: PMC8595063

Abstract Article PDF–12M

Select item 85968639.

Trigeminal neuropathy causes hypomyelination in the anterior cingulate cortex, disrupts the synchrony of neural circuitry, and impairs decision‐making in male rats

Suresh K. Murugappan, Mahadi Hasan, Zhuogui Lei, Zafar Iqbal, Aruna S. Ramkrishnan, Heung Y. Wong, Ying Li

J Neurosci Res. 2021 Oct; 99(10): 2721–2742. Published online 2021 Jul 29. doi: 10.1002/jnr.24903

PMCID:: PMC8596863

Abstract Article PDF–2.4M

Select item 863868610.

Sustained ErbB Activation Causes Demyelination and Hypomyelination by Driving Necroptosis of Mature Oligodendrocytes and Apoptosis of Oligodendrocyte Precursor Cells

Xu Hu, Guanxiu Xiao, Li He, Xiaojie Niu, Huashun Li, Tianjie Lou, Qianqian Hu, Youguang Yang, Qi Xu, Zhengdong Wei, Mengsheng Qiu, Kenji F. Tanaka, Ying Shen, Yanmei Tao

J Neurosci. 2021 Dec 1; 41(48): 9872–9890. doi: 10.1523/JNEUROSCI.2922-20.2021

PMCID:: PMC8638686

Abstract Article PDF–12M

Select item 863954511.

Melatonin Reduces Neuroinflammation and Improves Axonal Hypomyelination by Modulating M1/M2 Microglia Polarization via JAK2-STAT3-Telomerase Pathway in Postnatal Rats Exposed to Lipopolysaccharide

Qiuping Zhou, Lanfen Lin, Haiyan Li, Huifang Wang, Shuqi Jiang, Peixian Huang, Qiongyu Lin, Xuan Chen, Yiyu Deng

Mol Neurobiol. 2021; 58(12): 6552–6576. Published online 2021 Sep 28. doi: 10.1007/s12035-021-02568-7

PMCID:: PMC8639545

Abstract Article PDF–27M

Select item 387958912.

Identification of Tmem10 as a Novel Late-stage Oligodendrocytes Marker for Detecting Hypomyelination

Wanxiang Jiang, Wanchun Yang, Weiwei Yang, Junyan Zhang, Dejiang Pang, Lingxue Gan, Liping Luo, Yingjun Fan, Yanhui Liu, Mina Chen

Int J Biol Sci. 2014; 10(1): 33–42. Published online 2013 Dec 10. doi: 10.7150/ijbs.7526

PMCID:: PMC3879589

Abstract Article PDF–1.7M

Select item 488243413.

Loss of Nicastrin from Oligodendrocytes Results in Hypomyelination and Schizophrenia with Compulsive Behavior

Daniel R. Dries, Yi Zhu, Mieu M. Brooks, Diego A. Forero, Megumi Adachi, Basar Cenik, James M. West, Yu-Hong Han, Cong Yu, Jennifer Arbella, Annelie Nordin, Rolf Adolfsson, Jurgen Del-Favero, Q. Richard Lu, Patrick Callaerts, Shari G. Birnbaum, Gang Yu

J Biol Chem. 2016 May 27; 291(22): 11647–11656. Published online 2016 Mar 23. doi: 10.1074/jbc.M116.715078

PMCID:: PMC4882434

Abstract Article PDF–2.1M

Select item 669276714.

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.641. Published online 2019 Jul 17. doi: 10.7916/tohm.v0.641

PMCID:: PMC6692767

Abstract Article PDF–1.0M

Select item 388598515.

Homozygous inactivation of the Lgi1 gene results in hypomyelination in the peripheral and central nervous system

Jeane Silva, Suash Sharma, Bernard Hughes, Y. Eugene Yu, John K Cowell

J Neurosci Res. Author manuscript; available in PMC 2014 Jan 9.

Published in final edited form as: J Neurosci Res. 2010 Nov 15; 88(15): 10.1002/jnr.22496. doi: 10.1002/jnr.22496

PMCID:: PMC3885985

Abstract Article PDF–2.6M

Select item 390910316.

Astrocyte-Derived Proinflammatory Cytokines Induce Hypomyelination in the Periventricular White Matter in the Hypoxic Neonatal Brain

Yiyu Deng, Di Xie, Ming Fang, Gaofeng Zhu, Chunbo Chen, Hongke Zeng, Jia Lu, Kaur Charanjit

PLoS One. 2014; 9(1): e87420. Published online 2014 Jan 31. doi: 10.1371/journal.pone.0087420

PMCID:: PMC3909103

Abstract Article PDF–7.5M

Select item 475063417.

Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain

Shoichi Takikita, Tomoyuki Takano, Tsutomu Narita, Yoshihiro Maruo

Mol Genet Metab Rep. 2015 Sep; 4: 25–29. Published online 2015 Jun 9. doi: 10.1016/j.ymgmr.2015.05.005

PMCID:: PMC4750634

Abstract Article PDF–742K

Select item 504617518.

Transcriptional Fingerprint of Hypomyelination in Zfp191^null and Shiverer (Mbp^shi) Mice

Joshua D. Aaker, Benayahu Elbaz, Yuwen Wu, Timothy J. Looney, Li Zhang, Bruce T. Lahn, Brian Popko

ASN Neuro. 2016 Sep-Oct; 8(5): 1759091416670749. Published online 2016 Sep 28. doi: 10.1177/1759091416670749

PMCID:: PMC5046175

Abstract Article PDF–706K

Select item 684898619.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Huifang Yan, Guy Helman, Swetha E. Murthy, Haoran Ji, Joanna Crawford, Thomas Kubisiak, Stephen J. Bent, Jiangxi Xiao, Ryan J. Taft, Adam Coombs, Ye Wu, Ana Pop, Dongxiao Li, Linda S. de Vries, Yuwu Jiang, Gajja S. Salomons, Marjo S. van der Knaap, Ardem Patapoutian, Cas Simons, Margit Burmeister, Jingmin Wang, Nicole I. Wolf

Am J Hum Genet. 2019 Nov 7; 105(5): 996–1004. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.09.011