PMC Articles for MedGen (Select 325157) - PMC

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

Abstract Article PDF–1.6M

Select item 54737154.

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

Abstract Article PDF–1.9M

Select item 86112275.

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

Abstract Article PDF–601K

Select item 81678366.

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

Abstract Article PDF–1.3M

Select item 35332597.

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

Abstract Article PDF–1.0M

Select item 46409868.

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

Abstract Article PDF–2.8M

Select item 31312959.

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

Abstract Article PDF–4.3M

Select item 583738610.

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

Abstract Article PDF–2.4M

Select item 1013587111.

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

Abstract Article PDF–3.4M

Select item 357242512.

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

Abstract Article PDF–1.3M

Select item 418336513.

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

Abstract Article PDF–688K

Select item 294303014.

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases

Fanny Mochel, Nadège Boildieu, Julie Barritault, Catherine Sarret, Eleonore Eymard-Pierre, François Seguin, Raphael Schiffmann, Odile Boespflug-Tanguy

Biochim Biophys Acta. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Biochim Biophys Acta. 2010 Nov; 1802(11): 1112–1117. Published online 2010 Jul 13. doi: 10.1016/j.bbadis.2010.07.005

PMCID:: PMC2943030

Abstract Article PDF–643K

Select item 298740915.

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction

Simone Diekmann, Marco Henneke, Birgitta C Burckhardt, Jutta Gärtner

Eur J Hum Genet. 2010 Sep; 18(9): 985–992. Published online 2010 May 5. doi: 10.1038/ejhg.2010.61

PMCID:: PMC2987409

Abstract Article PDF–780K

Select item 299738116.

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

Miora Feinstein, Barak Markus, Iris Noyman, Hannah Shalev, Hagit Flusser, Ilan Shelef, Keren Liani-Leibson, Zamir Shorer, Idan Cohen, Shareef Khateeb, Sara Sivan, Ohad S. Birk

Am J Hum Genet. 2010 Dec 10; 87(6): 820–828. doi: 10.1016/j.ajhg.2010.10.016

PMCID:: PMC2997381

Abstract Article PDF–916K

Select item 293774217.

Leukoencephalopathy Associated with Parvovirus Infection in Cretan Hound Puppies

D. Schaudien, Z. Polizopoulou, A. Koutinas, S. Schwab, D. Porombka, W. Baumgärtner, C. Herden

J Clin Microbiol. 2010 Sep; 48(9): 3169–3175. Published online 2010 Jun 30. doi: 10.1128/JCM.01582-09

PMCID:: PMC2937742

Abstract Article PDF–1.8M

Select item 264021618.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Jennifer L. Orthmann-Murphy, Ettore Salsano, Charles K. Abrams, Alberto Bizzi, Graziella Uziel, Mona M. Freidin, Eleonora Lamantea, Massimo Zeviani, Steven S. Scherer, Davide Pareyson

Brain. 2009 Feb; 132(2): 426–438. Published online 2008 Dec 4. doi: 10.1093/brain/awn328

PMCID:: PMC2640216

Abstract Article PDF–894K

Select item 338198519.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Birdal Bilir, Zuhal Yapici, Cengiz Yalcinkaya, Ibrahim Baris, Claudia M. B. Carvalho, Magdalena Bartnik, Burcak Ozes, Mefkure Eraksoy, James R. Lupski, Esra Battaloglu

Clin Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Clin Genet. 2013 Jan; 83(1): 66–72. Published online 2012 Feb 20. doi: 10.1111/j.1399-0004.2012.01846.x

PMCID:: PMC3381985

Article PDF–589K

Select item 1105008520.

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita

Genes (Basel) 2024 Apr; 15(4): 508. Published online 2024 Apr 18. doi: 10.3390/genes15040508

PMCID:: PMC11050085

Abstract Article PDF–734K

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