Literature DB >> 12499506

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.

H J Schelhaas1, B G M Van Engelen, A A W M Gabreëls-Festen, G Hageman, J H R Vliegen, M S Van Der Knaap, M J Zwarts.   

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Year:  2002        PMID： 12499506     DOI： 10.1212/01.wnl.0000038390.29853.46

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  16 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.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 4.  Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa; Steven S Scherer
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

5.  A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Authors:  Hideya Sakaguchi; Satoshi Yamashita; Akiko Miura; Tomoo Hirahara; En Kimura; Yasushi Maeda; Tadashi Terasaki; Teruyuki Hirano; Makoto Uchino
Journal:  J Neurol       Date:  2010-09-21       Impact factor: 4.849

6.  A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.

Authors:  Irene Sargiannidou; Gun-Ha Kim; Styliana Kyriakoudi; Baik-Lin Eun; Kleopas A Kleopa
Journal:  Neurogenetics       Date:  2015-03-15       Impact factor: 2.660

7.  CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.

Authors:  Chong Xie; Xiajun Zhou; Desheng Zhu; Wei Liu; Xiaoqing Wang; Hong Yang; Zezhi Li; Yong Hao; Guang-Xian Zhang; Yangtai Guan
Journal:  Neurol Sci       Date:  2016-04-20       Impact factor: 3.307

8.  A new mutation in GJC2 associated with subclinical leukodystrophy.

Authors:  Charles K Abrams; Steven S Scherer; Rafael Flores-Obando; Mona M Freidin; Sarah Wong; Eleonora Lamantea; Laura Farina; Vidmer Scaioli; Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2014-07-25       Impact factor: 4.849

9.  Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia.

Authors:  Valentina Citton; Alberto Burlina; Claudio Baracchini; Massimo Gallucci; Alessia Catalucci; Sandro Dal Pos; Alessandro Burlina; Renzo Manara
Journal:  Insights Imaging       Date:  2011-12-20

10.  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
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