Literature DB >> 10400511

Central nervous system involvement in a novel connexin 32 mutation affecting identical twins.

W Marques, J G Sweeney, N W Wood, S J Wroe, W Marques.   

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Year:  1999        PMID： 10400511      PMCID： PMC1736386          DOI： 10.1136/jnnp.66.6.803

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  6 in total

1.  The role of gap junctions in Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa
Journal:  J Neurosci       Date:  2011-12-07       Impact factor: 6.167

Review 2.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

Review 3.  How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Authors:  Kleopas A Kleopa; Charles K Abrams; Steven S Scherer
Journal:  Brain Res       Date:  2012-07-06       Impact factor: 3.252

4.  Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.

Authors:  Margarita Olympiou; Irene Sargiannidou; Kyriaki Markoullis; Christos Karaiskos; Alexia Kagiava; Styliana Kyriakoudi; Charles K Abrams; Kleopas A Kleopa
Journal:  Acta Neuropathol Commun       Date:  2016-09-01       Impact factor: 7.801

5.  Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Authors:  Charles K Abrams; Mikhail Goman; Sarah Wong; Steven S Scherer; Kleopas A Kleopa; Alejandro Peinado; Mona M Freidin
Journal:  Sci Rep       Date:  2017-01-10       Impact factor: 4.379

6.  Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report.

Authors:  Yuan Zhao; Yanchen Xie; Xiaoquan Zhu; Huigang Wang; Yao Li; Jimei Li
Journal:  BMC Neurol       Date:  2014-08-03       Impact factor: 2.474
  6 in total

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