| 1 | CMTX1, GJB1, GJC2, PMLD1, SPG44
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| Diseases of connexins expressed in myelinating glia.
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| Abrams CK.
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| Neurosci Lett 695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23. Review.
2019
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| 2 | GJC2, PMLD1
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| High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
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| Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
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| Clin Genet 83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20.
2013
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| 3 | GJC2, PMLD1
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| The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
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| Kim MS, Gloor GB, Bai D.
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| Biochem J 452(2):249-58. doi: 10.1042/BJ20121821.
2013
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| 4 | GJC2, PMLD1
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| Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
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| Combes P, Kammoun N, Monnier A, Gonthier-Guéret C, Giraud G, Bertini E, Chahnez T, Fakhfakh F, Boespflug-Tanguy O, Vaurs-Barrière C.
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| Ann Neurol 71(1):146-8. doi: 10.1002/ana.22295. Epub 2011 Jan 18. No abstract available. 2012
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| 5 | GJC2, PMLD1
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| Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
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| Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER.
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| Mol Genet Metab 104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.
2011
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| 6 | GJC2, PMLD1
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| Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
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| Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D.
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| Brain 2009 Jan 20. [Epub ahead of print] 2009
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| 7 | GJC2, PMLD1
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| Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
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| Ruf N, Uhlenberg B.
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| Am J Med Genet B Neuropsychiatr Genet 150B(2):226-32.
2009
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| 8 | GJC2, PMLD1
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| GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
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| Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
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| Neurology 70(10):748-54. Epub 2007 Dec 19.
2008
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| 9 | GJC2, PMLD1
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| Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
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| Orthmann-Murphy JL, Enriquez AD, Abrams CK, Scherer SS.
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| Mol Cell Neurosci 34(4):629-41. Epub 2007 Jan 25.
2007
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| 10 | GJC2, PMLD1
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| Mutations in the Gene Encoding Gap Junction Protein alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease.
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| Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nurnberg P, Hubner C, Weschke B, Gartner J.
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| Am J Hum Genet m J Hum Genet. 2004 Jun 10 [Epub ahead of print] 2004
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