Literature DB >> 9854984

Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations.

M Panas, C Karadimas, D Avramopoulos, D Vassilopoulos.   

Abstract

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Year:  1998        PMID： 9854984      PMCID： PMC2170411          DOI： 10.1136/jnnp.65.6.947a

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


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  19 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

2.  Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.

Authors:  G Karadima; M Panas; P Floroskufi; N Kalfakis; D Vassilopoulos
Journal:  J Neurol       Date:  2005-08-17       Impact factor: 4.849

3.  X-linked Charcot-Marie-Tooth disease and multiple sclerosis.

Authors:  Y Parman; F Ciftci; M Poyraz; A M Halefoglu; A E Oge; M Eraksoy; G Saruhan-Direskeneli; F Deymeer; E Battaloglu
Journal:  J Neurol       Date:  2007-01-30       Impact factor: 4.849

Review 4.  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

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.  Brain connectivity abnormalities extend beyond the sensorimotor network in peripheral neuropathy.

Authors:  Maria A Rocca; Paola Valsasina; Raffaella Fazio; Stefano C Previtali; Roberta Messina; Andrea Falini; Giancarlo Comi; Massimo Filippi
Journal:  Hum Brain Mapp       Date:  2012-10-25       Impact factor: 5.038

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.  Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

Authors:  Knut Brockmann; Steffi Dreha-Kulaczewski; Peter Dechent; Carsten Bönnemann; Gunther Helms; Marten Kyllerman; Wolfgang Brück; Jens Frahm; Kathrin Huehne; Jutta Gärtner; Bernd Rautenstrauss
Journal:  J Neurol       Date:  2008-04-21       Impact factor: 4.849

10.  Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice.

Authors:  J I Nagy; A-V Ionescu; B D Lynn; J E Rash
Journal:  Glia       Date:  2003-12       Impact factor: 7.452
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