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Items: 1 to 20 of 29

1.
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
Sajad Rafiee Komachali, Mozhgan Sheikholeslami, Mansoor Salehi
Genomics Inform. 2022 Jun; 20(2): e24. Published online 2022 Jun 30. doi: 10.5808/gi.22008
PMCID:
PMC9299563
AbstractArticlePDF–2.2M
2.
Disease Variants of Human Δ1-Pyrroline-5-Carboxylate Reductase 2 (PYCR2)
Sagar M. Patel, Javier Seravalli, Xinwen Liang, John J. Tanner, Donald F. Becker
Arch Biochem Biophys. Author manuscript; available in PMC 2022 May 30.
Published in final edited form as: Arch Biochem Biophys. 2021 May 30; 703: 108852. Published online 2021 Mar 24. doi: 10.1016/j.abb.2021.108852
PMCID:
PMC8120637
AbstractArticlePDF–1.9M
3.
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
V. Chelban, M. Alsagob, K. Kloth, A. Chirita‐Emandi, J. Vandrovcova, R. Maroofian, I. Davagnanam, S. Bakhtiari, M. D. AlSayed, Z. Rahbeeni, H. AlZaidan, N. T. Malintan, J. Johannsen, S. Efthymiou, E. Ghayoor Karimiani, K. Mankad, S. A. Al‐Shahrani, M. Beiraghi Toosi, M. AlShammari, S. Groppa, N. A. Haridy, L. AlQuait, A. Qari, R. Huma, M. A. Salih, R. Almass, F. B. Almutairi, M. H. Hamad, I. A. Alorainy, K. Ramzan, F. Imtiaz, M. Puiu, M. C. Kruer, T. Bierhals, N. W. Wood, D. Colak, H. Houlden, N. Kaya
Eur J Neurol. 2020 Feb; 27(2): 334–342. Published online 2019 Oct 17. doi: 10.1111/ene.14082
PMCID:
PMC6946857
AbstractArticlePDF–1.6M
4.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden
Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009
PMCID:
PMC5473715
AbstractArticlePDF–1.9M
5.
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report
Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi
Iran J Med Sci. 2021 Nov; 46(6): 493–497. doi: 10.30476/IJMS.2021.87126.1736
PMCID:
PMC8611227
AbstractArticlePDF–601K
6.
Neurogenetics of Pelizaeus-Merzbacher disease
Joana M. Osorio, Steven A. Goldman
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Handb Clin Neurol. 2018; 148: 701–722. doi: 10.1016/B978-0-444-64076-5.00045-4
PMCID:
PMC8167836
AbstractArticlePDF–1.3M
7.
Activated Immune Response in an Inherited Leukodystrophy Disease Caused by the Loss of Oligodendrocyte Gap Junctions
Sameh K. Wasseff, Steven S. Scherer
Neurobiol Dis. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Neurobiol Dis. 2015 Oct; 82: 86–98. Published online 2015 Jun 4. doi: 10.1016/j.nbd.2015.05.018
PMCID:
PMC4640986
AbstractArticlePDF–2.8M
8.
Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form
Roberta Biancheri, Camillo Rosano, Laura Denegri, Eleonora Lamantea, Francesca Pinto, Federica Lanza, Mariasavina Severino, Mirella Filocamo
Eur J Hum Genet. 2013 Jan; 21(1): 34–39. Published online 2012 Jun 6. doi: 10.1038/ejhg.2012.93
PMCID:
PMC3533259
AbstractArticlePDF–1.0M
9.
Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans
Oliver Tress, Marta Maglione, Armin Zlomuzica, Dennis May, Nikolai Dicke, Joachim Degen, Ekrem Dere, Helmut Kettenmann, Dieter Hartmann, Klaus Willecke
PLoS Genet. 2011 Jul; 7(7): e1002146. Published online 2011 Jul 7. doi: 10.1371/journal.pgen.1002146
PMCID:
PMC3131295
AbstractArticlePDF–4.3M
10.
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model
Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A. Kleopa
Brain. 2017 Mar; 140(3): 599–616. Published online 2017 Jan 18. doi: 10.1093/brain/aww351
PMCID:
PMC5837386
AbstractArticlePDF–2.4M
11.
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47
Charles K. Abrams
Biomolecules. 2023 Apr; 13(4): 712. Published online 2023 Apr 21. doi: 10.3390/biom13040712
PMCID:
PMC10135871
AbstractArticlePDF–3.4M
12.
Neuropathological Diagnostic Considerations in Hyperkinetic Movement Disorders
Wilfred F. A. den Dunnen
Front Neurol. 2013; 4: 7. Published online 2013 Feb 14. doi: 10.3389/fneur.2013.00007
PMCID:
PMC3572425
AbstractArticlePDF–1.3M
13.
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver
Mol Genet Metab. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Mol Genet Metab. 2014 Mar; 111(3): 393–398. Published online 2013 Dec 16. doi: 10.1016/j.ymgme.2013.12.001
Correction in:
Mol Genet Metab. 2016 Nov; 119(3): 293.
PMCID:
PMC4183365
AbstractArticlePDF–688K
14.
Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease
Fredrik I Gruenenfelder, Mark McLaughlin, Ian R Griffiths, James Garbern, Gemma Thomson, Peter Kuzman, Jennifer A Barrie, Maj-lis McCulloch, Jacques Penderis, Ruth Stassart, Klaus-Armin Nave, Julia M Edgar
Brain. 2020 May; 143(5): 1383–1399. Published online 2020 May 18. doi: 10.1093/brain/awaa080
PMCID:
PMC7462093
AbstractArticlePDF–1.3M
15.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095
Correction in:
Brain. 2018 Mar; 141(3): e21.
PMCID:
PMC6402316
AbstractArticlePDF–1.1M
16.
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
PLoS One. 2018; 13(2): e0188869. Published online 2018 Feb 16. doi: 10.1371/journal.pone.0188869
PMCID:
PMC5815574
AbstractArticlePDF–9.3M
17.
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease
Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg, Claudia Weiß, Corinne Boehm, Kristina Prelog, Robert Ouvrier, John Christodoulou
Eur J Hum Genet. 2017 Oct; 25(10): 1134–1141. Published online 2017 Jul 26. doi: 10.1038/ejhg.2017.119
PMCID:
PMC5602020
AbstractArticlePDF–1.3M
18.
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease
Megan Krench, Richard W. Cho, J. Troy Littleton
Hum Mol Genet. 2016 Aug 1; 25(15): 3164–3177. Published online 2016 Jun 10. doi: 10.1093/hmg/ddw166
PMCID:
PMC5179919
AbstractArticlePDF–1.1M
19.
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
Alexander Lossos, Nimrod Elazar, Israela Lerer, Ora Schueler-Furman, Yakov Fellig, Benjamin Glick, Bat-El Zimmerman, Haim Azulay, Shlomo Dotan, Sharon Goldberg, John M. Gomori, Penina Ponger, J. P. Newman, Hodaifah Marreed, Andreas J. Steck, Nicole Schaeren-Wiemers, Nofar Mor, Michal Harel, Tamar Geiger, Yael Eshed-Eisenbach, Vardiella Meiner, Elior Peles
Brain. 2015 Sep; 138(9): 2521–2536. Published online 2015 Jul 15. doi: 10.1093/brain/awv204
PMCID:
PMC4643626
AbstractArticlePDF–2.0M
20.
A New Mutation in Gjc2 Associated with Subclinical Leukodystrophy
Charles K. Abrams, Steven S. Scherer, Rafael Flores-Obando, Mona M Freidin, Sarah Wong, Eleonora Lamantea, Laura Farina, Vidmer Scaioli, Davide Pareyson, Ettore Salsano
J Neurol. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: J Neurol. 2014 Oct; 261(10): 1929–1938. Published online 2014 Jul 25. doi: 10.1007/s00415-014-7429-1
PMCID:
PMC4301586
AbstractArticlePDF–2.5M

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