Literature DB >> 18714809

A V139M mutation also causes the reversible CNS phenotype in CMTX.

Michelle Halbrich, Jeffrey Barnes, Martin Bunge, Charuta Joshi.   

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Year:  2008        PMID： 18714809     DOI： 10.1017/s0317167100008994

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


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  10 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

3.  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

4.  Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Authors:  Georgios Koutsis; Georgios Velonakis; Efstratios Karavasilis; Foteini Christidi; Eirini Pantou; Georgia Angelopoulou; Dimitrios Kasselimis; Marianthi Breza; Zoi Kontogeorgiou; Dimitrios Filippiadis; Constantin Potagas; Georgia Karadima
Journal:  Neuroradiology       Date:  2021-09-09       Impact factor: 2.804

5.  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

6.  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

7.  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

8.  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

9.  GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Authors:  Sabine Kovale; Ruta Terauda; Elina Millere; Gita Taurina; Daiga Murmane; Jekaterina Isakova; Viktorija Kenina; Linda Gailite
Journal:  Case Rep Neurol       Date:  2021-06-23

10.  The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Authors:  Qingxian Wen; Longqiao Cao; Cun Yang; Yanchen Xie
Journal:  Front Neurol       Date:  2018-06-27       Impact factor: 4.003
  10 in total

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